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 TMEM132B 114795 broad.mit.edu 37 12 126138962 126138962 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:126138962G>A ENST00000299308.3 + 9 2951 c.2943G>A c.(2941-2943)agG>agA p.R981R TMEM132B_ENST00000535886.1_Silent_p.R493R NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 981 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCGAGGAGAGGAACTTCCTTC 0.438000 11 20 0 0 0.000673444 0 0 SYT16 83851 broad.mit.edu 37 14 62463197 62463197 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:62463197C>T ENST00000430451.2 + 1 657 c.460C>T c.(460-462)Ctt>Ttt p.L154F SYT16_ENST00000446982.2_Missense_Mutation_p.L154F NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 154 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AAGAAGTGGCCTTCAACATGG 0.478000 16 52 0 0 0.000422831 0 0 FLG 2312 broad.mit.edu 37 1 152282040 152282040 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152282040C>T ENST00000368799.1 - 3 5357 c.5322G>A c.(5320-5322)caG>caA p.Q1774Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1774 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGACTCAGACTGTTCATGAG 0.612000 Ichthyosis 43 254 0 0 0.00222228 0 0 MET 4233 broad.mit.edu 37 7 116339428 116339428 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:116339428C>T ENST00000397752.3 + 2 490 c.290C>T c.(289-291)cCa>cTa p.P97L MET_ENST00000318493.6_Missense_Mutation_p.P97L|MET_ENST00000436117.2_Missense_Mutation_p.P97L NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 97 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GATTGTTTCCCATGTCAGGAC 0.443000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 12 49 0 0 0.000978159 0 0 SYT6 148281 broad.mit.edu 37 1 114680414 114680414 + Silent SNP G G C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:114680414G>C ENST00000393296.1 - 3 851 c.774C>G c.(772-774)gcC>gcG p.A258A SYT6_ENST00000369547.1_Silent_p.A173A Q5T7P8 SYT6_HUMAN synaptotagmin VI 258 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAAGTCCTTGGCAGGGAGGT 0.552000 30 177 0 0 0.001512 0 0 TADA3 10474 broad.mit.edu 37 3 9831419 9831419 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:9831419G>A ENST00000343450.2 - 3 983 c.436C>T c.(436-438)Ccc>Tcc p.P146S TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000301964.2_Missense_Mutation_p.P146S|TADA3_ENST00000440161.1_Missense_Mutation_p.P146S NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 146 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 TCATTTTTGGGGATCCGTGGC 0.587000 64 82 0 0 0.000781405 0 0 IL33 90865 broad.mit.edu 37 9 6256006 6256006 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:6256006C>T ENST00000381434.3 + 7 664 c.651C>T c.(649-651)ttC>ttT p.F217F IL33_ENST00000456383.2_Silent_p.F175F|IL33_ENST00000417746.2_Silent_p.F91F NM_033439.3 NP_254274.1 O95760 IL33_HUMAN interleukin 33 217 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) ACCAGGCCTTCTTTGTCCTTC 0.403000 20 4 0 0 0.00047179 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469116 25469116 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:25469116A>G ENST00000264709.3 - 11 1679 c.1342T>C c.(1342-1344)Tac>Cac p.Y448H DNMT3A_ENST00000380746.4_Missense_Mutation_p.Y259H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Y225H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Y448H NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 448 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGGTGCGTAGGCAGCTGCC 0.552000 """Mis, F, N, S""" AML 85 141 0 0 0.000781405 0 0 ABCC2 1244 broad.mit.edu 37 10 101563847 101563847 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:101563847T>G ENST00000370449.4 + 10 1394 c.1281T>G c.(1279-1281)gaT>gaG p.D427E NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 427 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTCTGTGGATGCCCAGAAGC 0.458000 13 22 0 0 0.00185496 0 0 FGD5 152273 broad.mit.edu 37 3 14939518 14939518 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:14939518C>T ENST00000285046.5 + 6 3092 c.2982C>T c.(2980-2982)atC>atT p.I994I FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.I753I NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 994 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCACTCACATCCTGCAGTTCG 0.602000 35 78 0 0 0.00128727 0 0 DSG2 1829 broad.mit.edu 37 18 29116202 29116202 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:29116202C>T ENST00000261590.8 + 11 1670 c.1461C>T c.(1459-1461)atC>atT p.I487I NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 487 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CAGTCCTTATCAATGTTGAAG 0.403000 36 47 0 0 0.00222228 0 0 MYO9A 4649 broad.mit.edu 37 15 72119333 72119333 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:72119333G>A ENST00000356056.5 - 42 7707 c.7235C>T c.(7234-7236)tCc>tTc p.S2412F MYO9A_ENST00000444904.1_Missense_Mutation_p.S2393F|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.S2483F NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2412 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAACTTGCTGGAAGGTTCAGA 0.443000 10 35 0 0 0.000978159 0 0 EPHA7 2045 broad.mit.edu 37 6 93967895 93967895 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:93967895C>T ENST00000369303.4 - 11 2216 c.2032G>A c.(2032-2034)Gac>Aac p.D678N NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 678 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CACAAAAAGTCTCTCCTTTGT 0.428000 9 18 0 0 0.000442599 0 0 INTS5 80789 broad.mit.edu 37 11 62414849 62414849 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:62414849G>A ENST00000330574.2 - 2 2755 c.2703C>T c.(2701-2703)ccC>ccT p.P901P NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 901 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCAGGTGCCAGGGGGAGTGGG 0.632000 37 39 0 0 0.000814825 0 0 NFIA 4774 broad.mit.edu 37 1 61553989 61553989 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:61553989G>A ENST00000403491.3 + 2 680 c.196G>A c.(196-198)Gag>Aag p.E66K NFIA_ENST00000407417.3_Missense_Mutation_p.E58K|NFIA_ENST00000371189.4_Missense_Mutation_p.E111K|NFIA_ENST00000485903.2_Missense_Mutation_p.E66K|NFIA_ENST00000371191.1_Missense_Mutation_p.E89K|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.E66K|NFIA_ENST00000371184.2_Missense_Mutation_p.E66K|NFIA_ENST00000371185.2_Missense_Mutation_p.E66K NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 66 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 TGAAAAACCAGAGGTCAAGCA 0.428000 18 63 0 0 0.00188189 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444392 26444392 + Missense_Mutation SNP C C T rs138755245 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:26444392C>T ENST00000244519.2 + 4 536 c.293C>T c.(292-294)tCg>tTg p.S98L BTN3A3_ENST00000339789.4_Missense_Mutation_p.S56L|BTN3A3_ENST00000361232.3_Missense_Mutation_p.S56L NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 98 Ig-like V-type 1. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GGGAGAACTTCGATTCTGCGG 0.522000 17 76 0 0 0.00278032 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175629 207175629 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207175629C>T ENST00000374423.3 + 5 6763 c.6377C>T c.(6376-6378)tCt>tTt p.S2126F NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2126 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGTGACTCTTCTCTGTTTCTG 0.413000 26 101 0 0 0.00106085 0 0 DOCK3 1795 broad.mit.edu 37 3 51394464 51394464 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:51394464C>T ENST00000266037.9 + 44 4598 c.4575C>T c.(4573-4575)atC>atT p.I1525I NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1525 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCTCCCTGATCAGCCAGTATC 0.522000 35 37 0 0 0.00283554 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47605858 47605858 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:47605858A>T ENST00000371917.4 + 19 2570 c.2570A>T c.(2569-2571)aAc>aTc p.N857I NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 857 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTGCTGTACAACTTAGAGATG 0.517000 19 52 0 0 0.000958276 0 0 TTN 7273 broad.mit.edu 37 2 179417082 179417082 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179417082T>A ENST00000589042.1 - 335 90769 c.90545A>T c.(90544-90546)aAa>aTa p.K30182I TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K28541I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21242I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21309I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K27614I|TTN_ENST00000460472.2_Missense_Mutation_p.K21117I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28541 Fibronectin type-III 120. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTTCAGTTTTACTGAAGCG 0.378000 6 33 0 0 0.00116845 0 0 PDE1C 5137 broad.mit.edu 37 7 31918629 31918629 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:31918629C>T ENST00000396184.3 - 5 609 c.405G>A c.(403-405)caG>caA p.Q135Q PDE1C_ENST00000396193.1_Silent_p.Q195Q|PDE1C_ENST00000321453.7_Silent_p.Q135Q|PDE1C_ENST00000396182.2_Silent_p.Q135Q|PDE1C_ENST00000396191.1_Silent_p.Q135Q NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 135 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATATCCCAGCCTGCACTGCGT 0.507000 11 77 0 0 0.00244969 0 0 CACNA1C 775 broad.mit.edu 37 12 2794921 2794921 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:2794921G>A ENST00000399655.1 + 44 5858 c.5593G>A c.(5593-5595)Gaa>Aaa p.E1865K CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1865K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1871K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1906K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1893K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1885K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1936K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1913K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1882K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1936K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1890K 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 1948 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.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2) 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) CCAGGATGACGAAAATCGGCA 0.592000 4 22 0 0 0.000602214 0 0 C1orf168 199920 broad.mit.edu 37 1 57252873 57252873 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57252873C>T ENST00000343433.6 - 4 1008 c.928G>A c.(928-930)Gaa>Aaa p.E310K C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 310 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GAGCCCTCTTCCACAGTCACT 0.493000 42 37 0 0 0.000781405 0 0 CEACAM5 1048 broad.mit.edu 37 19 42223929 42223929 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42223929C>T ENST00000221992.6 + 7 1687 c.1573C>T c.(1573-1575)Cct>Tct p.P525S CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 525 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CACCTGTGAACCTGAGGCTCA 0.567000 67 85 0 0 0.000781405 0 0 FREM1 158326 broad.mit.edu 37 9 14776104 14776104 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:14776104C>T ENST00000380881.4 - 26 5358 c.4543G>A c.(4543-4545)Ggg>Agg p.G1515R FREM1_ENST00000380880.3_Missense_Mutation_p.G1514R|FREM1_ENST00000422223.2_Missense_Mutation_p.G1514R|FREM1_ENST00000380894.1_Missense_Mutation_p.G50R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1514 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGTCTCAACCCCTTGTTCCTG 0.587000 24 6 0 0 0.000720815 0 0 PDE6B 5158 broad.mit.edu 37 4 650810 650810 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:650810G>A ENST00000255622.6 + 9 1298 c.1255G>A c.(1255-1257)Gag>Aag p.E419K PDE6B_ENST00000429163.2_Missense_Mutation_p.E140K|PDE6B_ENST00000496514.1_Missense_Mutation_p.E419K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 419 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGTTCTCATGGAGGTAAGCAC 0.612000 12 35 0 0 0.000422831 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578692 141578692 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:141578692G>A ENST00000442267.2 - 12 2270 c.2196C>T c.(2194-2196)acC>acT p.T732T NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 732 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTCCCAAAACGGTCATGGCCT 0.423000 70 139 0 0 0.000781405 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43939406 43939406 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:43939406C>T ENST00000282406.4 + 15 2454 c.2344C>T c.(2344-2346)Ccc>Tcc p.P782S NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 782 PH 1. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCAGATTCTCCCAATATATT 0.418000 107 429 0 0 0.000781405 0 0 DEK 7913 broad.mit.edu 37 6 18256622 18256622 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:18256622T>A ENST00000397239.3 - 5 869 c.422A>T c.(421-423)cAa>cTa p.Q141L DEK_ENST00000244776.7_Missense_Mutation_p.Q107L NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 141 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CTTTTTATATTGGACACTTCC 0.264000 T NUP214 AML 12 52 0 0 0.00244969 0 0 XIRP2 129446 broad.mit.edu 37 2 168103231 168103231 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:168103231G>A ENST00000409195.1 + 9 5418 c.5329G>A c.(5329-5331)Gag>Aag p.E1777K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1555K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1777K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1602 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAAGAAGGAGAGAAAGAAAT 0.403000 11 22 0 0 0.00185496 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061549 13061549 + Silent SNP C C T rs142201347 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:13061549C>T ENST00000014914.5 + 2 1256 c.366C>T c.(364-366)ctC>ctT p.L122L GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 122 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TGACCAAGCTCGTCCGGGGGA 0.557000 38 135 0 0 0.00128727 0 0 OR2M2 391194 broad.mit.edu 37 1 248343329 248343329 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248343329C>T ENST00000359682.2 + 1 42 c.42C>T c.(40-42)ctC>ctT p.L14L NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACTTCATCCTCCTTGGAATCT 0.433000 32 128 0 0 0.000814825 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275642 130275642 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:130275642G>A ENST00000257359.6 - 9 3187 c.2481C>T c.(2479-2481)atC>atT p.I827I NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 827 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCGGCTGGATGATGTTGGTGG 0.577000 50 62 0 0 0.000781405 0 0 RAB27B 5874 broad.mit.edu 37 18 52544899 52544899 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:52544899G>A ENST00000262094.5 + 2 604 c.83G>A c.(82-84)aGa>aAa p.R28K RAB27B_ENST00000586594.1_3'UTR NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 28 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TTTCTTTATAGATACACAGAT 0.413000 19 35 0 0 0.00074312 0 0 BTNL3 10917 broad.mit.edu 37 5 180432702 180432702 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:180432702C>T ENST00000342868.6 + 8 1415 c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 411 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AGGGGTCTTCCTGGACTATGA 0.478000 13 27 0 0 0.00244969 0 0 DNAH5 1767 broad.mit.edu 37 5 13727616 13727616 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13727616C>T ENST00000265104.4 - 70 12137 c.12033_splice c.e70+1 p.Q4011_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4011 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACTTTTTACCTGGGCGATGG 0.338000 Kartagener syndrome 8 24 0 0 0.000274275 0 0 MYOM1 8736 broad.mit.edu 37 18 3131480 3131480 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:3131480C>T ENST00000400569.3 - 17 2732 c.2399G>A c.(2398-2400)gGa>gAa p.G800E MYOM1_ENST00000261606.7_Missense_Mutation_p.G800E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G800E P52179 MYOM1_HUMAN myomesin 1 800 Fibronectin type-III 3. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGTCACTAATCCATGACAAGT 0.378000 22 37 0 0 0.000586117 0 0 ZNF425 155054 broad.mit.edu 37 7 148801022 148801022 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:148801022G>A ENST00000378061.2 - 4 2073 c.1941C>T c.(1939-1941)ttC>ttT p.F647F NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 647 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACTGTTGAGTGAAACTTTTGC 0.537000 40 143 0 0 0.0025221 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985541 140985541 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:140985541A>T ENST00000298296.1 + 8 1855 c.1855A>T c.(1855-1857)Att>Ttt p.I619F MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 619 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCAGGCCATAATTGACACCAC 0.483000 43 1 0 0 0.000680045 0 0 FAM183A 440585 broad.mit.edu 37 1 43621918 43621918 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:43621918G>A ENST00000410048.1 + 4 351 c.255G>A c.(253-255)agG>agA p.R85R FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000335282.4_Silent_p.R113R A6NL82 F183A_HUMAN family with sequence similarity 183, member A 113 kidney(1)|large_intestine(1)|lung(2)|ovary(3) 7 ATCACTTCAGGGTCTGCAGTG 0.512000 20 99 0 0 0.00047179 0 0 CYP2C18 1562 broad.mit.edu 37 10 96493179 96493179 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96493179C>T ENST00000285979.6 + 8 1474 c.1275C>T c.(1273-1275)ttC>ttT p.F425F CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.F366F NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GTGACTACTTCATGCCTTTCT 0.438000 8 13 0 0 0.000157383 0 0 VWA3A 146177 broad.mit.edu 37 16 22126769 22126769 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:22126769C>T ENST00000389398.5 + 9 887 c.791C>T c.(790-792)tCc>tTc p.S264F VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 264 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GGACTGGATTCCCTGGTGGCC 0.468000 14 8 0 0 0.000308642 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900195 151900195 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:151900195C>T ENST00000393900.3 - 3 959 c.606G>A c.(604-606)ctG>ctA p.L202L MAGEA12_ENST00000357916.4_Silent_p.L202L|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.L202L NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 202 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGACGATTATCAGGAGGCCTG 0.582000 56 62 0 0 0.000781405 0 0 FLNC 2318 broad.mit.edu 37 7 128494728 128494728 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:128494728G>A ENST00000325888.8 + 41 7250 c.6989G>A c.(6988-6990)gGc>gAc p.G2330D RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2297D NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2330 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGTGTGGCCGGCGTGCCAGGT 0.672000 8 19 0 0 0.000157383 0 0 MYLK3 91807 broad.mit.edu 37 16 46763512 46763512 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:46763512C>T ENST00000394809.4 - 6 1771 c.1656G>A c.(1654-1656)aaG>aaA p.K552K MYLK3_ENST00000536476.1_Silent_p.K211K NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 552 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCACCCGGTCCTTGGCGCTCT 0.612000 16 42 0 0 0.000958276 0 0 KIAA0141 9812 broad.mit.edu 37 5 141318137 141318137 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:141318137C>T ENST00000432126.2 + 12 1495 c.1361C>T c.(1360-1362)cCc>cTc p.P454L KIAA0141_ENST00000194118.4_Missense_Mutation_p.P454L NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 454 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCCAGCCCCTCCCTCTGC 0.562000 46 31 0 0 0.000781405 0 0 TECTA 7007 broad.mit.edu 37 11 120998562 120998562 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120998562C>T ENST00000392793.1 + 9 2147 c.1876C>T c.(1876-1878)Ccg>Tcg p.P626S TECTA_ENST00000264037.2_Missense_Mutation_p.P626S O75443 TECTA_HUMAN tectorin alpha 626 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGCGCCACGCCGTGCACAGA 0.652000 22 19 0 0 0.00152264 0 0 EFS 10278 broad.mit.edu 37 14 23826617 23826617 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23826617C>T ENST00000216733.3 - 6 2111 c.1504G>A c.(1504-1506)Gca>Aca p.A502T EFS_ENST00000429593.2_Missense_Mutation_p.A333T|EFS_ENST00000351354.3_Missense_Mutation_p.A409T NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 502 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CTGACCTGTGCTCTCAGAGGG 0.657000 7 24 0 0 0.00198382 0 0 KCNN3 3782 broad.mit.edu 37 1 154705510 154705510 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:154705510C>T ENST00000271915.3 - 4 1874 c.1559G>A c.(1558-1560)gGg>gAg p.G520E KCNN3_ENST00000358505.2_Missense_Mutation_p.G207E|KCNN3_ENST00000361147.4_Missense_Mutation_p.G215E NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 525 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GACACCTTTCCCACAGTATGT 0.507000 23 64 0 0 0.00229938 0 0 TMEM255B 348013 broad.mit.edu 37 13 114502317 114502317 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:114502317G>A ENST00000375353.3 + 5 375 c.348G>A c.(346-348)ccG>ccA p.P116P NM_182614.2 NP_872420.1 transmembrane protein 255B TCTAGGAACCGAGGCCCCTCA 0.547000 8 30 0 0 0.000274275 0 0 SUSD2 56241 broad.mit.edu 37 22 24581879 24581879 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:24581879T>C ENST00000358321.3 + 8 1582 c.1321T>C c.(1321-1323)Tac>Cac p.Y441H NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 441 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 CTGCCGCAACTACCGGCCCCC 0.657000 13 7 0 0 0.00244969 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5655033 5655033 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5655033G>A ENST00000354852.5 + 9 1658 c.e9-1 TRIM6-TRIM34_ENST00000457787.2_Splice_Site|TRIM34_ENST00000514226.1_Splice_Site|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Splice_Site NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CCTTCTCATAGGAGAAACTCC 0.438000 16 14 0 0 0.00121646 0 0 PLCB4 5332 broad.mit.edu 37 20 9438082 9438082 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9438082G>A ENST00000378501.2 + 30 2997 c.2982G>A c.(2980-2982)atG>atA p.M994I PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.M1006I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M994I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M994I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M994I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M1006I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 994 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity 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 GTCTCGAAATGAAAAAAGAAA 0.368000 22 20 0 0 0.000586117 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846459 43846459 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:43846459C>T ENST00000389420.3 - 13 1799 c.1800G>A c.(1798-1800)atG>atA p.M600I ADAMTS20_ENST00000553158.1_Missense_Mutation_p.M600I NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 600 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATCGAAATTTCATCCTGCGGC 0.388000 11 5 0 0 0.000978159 0 0 LAMA3 3909 broad.mit.edu 37 18 21513856 21513856 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:21513856G>A ENST00000313654.9 + 67 9060 c.8819G>A c.(8818-8820)gGt>gAt p.G2940D LAMA3_ENST00000399516.3_Missense_Mutation_p.G2884D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1331D|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1275D NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2940 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCTTAAAGGTTCTACCAGG 0.463000 12 78 0 0 0.00136819 0 0 OR5M8 219484 broad.mit.edu 37 11 56258650 56258650 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56258650G>A ENST00000327216.2 - 1 221 c.197C>T c.(196-198)tCc>tTc p.S66F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) ATCCACGAAGGATAAGTGGCT 0.488000 21 33 0 0 0.00152264 0 0 DENND2D 79961 broad.mit.edu 37 1 111730783 111730783 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:111730783C>T ENST00000357640.4 - 11 1538 c.1309G>A c.(1309-1311)Gaa>Aaa p.E437K DENND2D_ENST00000369752.5_Missense_Mutation_p.E434K NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 437 dDENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTCTCGGCTTCCTGGATGAAA 0.473000 23 102 0 0 0.00278032 0 0 FHL5 9457 broad.mit.edu 37 6 97053872 97053872 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:97053872C>T ENST00000326771.2 + 5 809 c.429C>T c.(427-429)atC>atT p.I143I FHL5_ENST00000541107.1_Silent_p.I143I NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 143 LIM zinc-binding 2. nucleus zinc ion binding p.I143I(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AGCCTTTGATCTCCAAAGAGA 0.413000 15 18 0 0 0.000308642 0 0 ZNF606 80095 broad.mit.edu 37 19 58500040 58500040 + Nonsense_Mutation SNP C C T rs151102847 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58500040C>T ENST00000341164.4 - 5 847 c.227G>A c.(226-228)tGg>tAg p.W76* ZNF606_ENST00000536132.1_5'UTR NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CAGCTGCCCCCACTCTTCTTG 0.547000 48 167 0 0 0.000781405 0 0 MDGA2 161357 broad.mit.edu 37 14 47314980 47314980 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:47314980A>G ENST00000426342.1 - 16 2830 c.2084T>C c.(2083-2085)cTa>cCa p.L695P MDGA2_ENST00000439988.2_Missense_Mutation_p.L924P|MDGA2_ENST00000357362.3_Missense_Mutation_p.L695P|MDGA2_ENST00000399232.2_Missense_Mutation_p.L993P|MDGA2_ENST00000399222.3_Missense_Mutation_p.L126P NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 924 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CTTAGTTGCTAGGTCTTGTTT 0.313000 9 57 0 0 0.000442599 0 0 CDH7 1005 broad.mit.edu 37 18 63430132 63430132 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:63430132C>T ENST00000536984.2 + 2 748 c.54C>T c.(52-54)ttC>ttT p.F18F CDH7_ENST00000323011.3_Silent_p.F18F|CDH7_ENST00000397968.2_Silent_p.F18F Q9ULB5 CADH7_HUMAN cadherin 7, type 2 18 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TAGCTCTTTTCCTGTGTTTTT 0.438000 4 19 0 0 0.000602214 0 0 ABCD1 215 broad.mit.edu 37 X 153001940 153001940 + Missense_Mutation SNP C C T rs144965658 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153001940C>T ENST00000218104.3 + 4 1765 c.1366C>T c.(1366-1368)Cgt>Tgt p.R456C U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 456 fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTCTGGTGTCCGTGTGGAGGG 0.632000 17 16 0 0 0.00074312 0 0 UTP20 27340 broad.mit.edu 37 12 101685850 101685850 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:101685850C>T ENST00000261637.4 + 10 1315 c.1141C>T c.(1141-1143)Ccg>Tcg p.P381S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 381 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGTTTCCTTGCCGGAGACCCT 0.388000 35 98 0 0 0.000953801 0 0 OR10V1 390201 broad.mit.edu 37 11 59481031 59481031 + Silent SNP C C T rs149864754 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:59481031C>T ENST00000307552.2 - 1 306 c.288G>A c.(286-288)acG>acA p.T96T STX3_ENST00000300150.7_5'UTR NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 TGCCACATCCCGTGATGGAAA 0.473000 16 13 0 0 0.00121646 0 0 PRKCG 5582 broad.mit.edu 37 19 54403977 54403977 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54403977G>A ENST00000263431.3 + 14 1831 c.1549G>A c.(1549-1551)Ggg>Agg p.G517R PRKCG_ENST00000542049.1_Missense_Mutation_p.G404R|PRKCG_ENST00000540413.1_Missense_Mutation_p.G517R NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 517 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CACCTTCTGCGGGACCCCGGA 0.562000 60 217 0 0 0.000781405 0 0 TRIM71 131405 broad.mit.edu 37 3 32933286 32933286 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:32933286C>T ENST00000383763.4 + 4 2653 c.2590C>T c.(2590-2592)Cga>Tga p.R864* NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 864 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGGCAACAATCGAATCCTCGT 0.517000 85 70 0 0 0.000781405 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439873 150439873 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150439873G>A ENST00000358647.3 + 3 1013 c.646G>A c.(646-648)Ggc>Agc p.G216S GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAGCGAGAGGGCTCCTTCCA 0.592000 20 59 0 0 0.00152264 0 0 WNT5A 7474 broad.mit.edu 37 3 55504257 55504257 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:55504257C>T ENST00000474267.1 - 6 1527 c.1006G>A c.(1006-1008)Gag>Aag p.E336K WNT5A_ENST00000264634.4_Missense_Mutation_p.E336K|WNT5A_ENST00000497027.1_Missense_Mutation_p.E321K P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 336 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) CACATGAGCTCGCAGCCATCC 0.637000 22 72 0 0 0.00106085 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053903 95053903 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:95053903C>T ENST00000329597.7 + 3 414 c.204C>T c.(202-204)tcC>tcT p.S68S SERPINA5_ENST00000553780.1_Silent_p.S68S|SERPINA5_ENST00000554866.1_Silent_p.S68S|SERPINA5_ENST00000554276.1_Silent_p.S68S NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 68 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TCTTCTTCTCCCCTGTGAGCA 0.607000 9 43 0 0 0.000274275 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545426 234545426 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:234545426G>A ENST00000344644.5 + 1 327 c.258G>A c.(256-258)caG>caA p.Q86Q UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.Q86Q NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGGAAGATCAGAACCGGGAAT 0.428000 25 91 0 0 0.00127121 0 0 CCDC13 152206 broad.mit.edu 37 3 42775086 42775086 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:42775086C>T ENST00000310232.6 - 11 1470 c.1387G>A c.(1387-1389)Gga>Aga p.G463R CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 463 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCACCCACTCCTTTATTCCGA 0.592000 16 63 0 0 0.000958276 0 0 MGAM 8972 broad.mit.edu 37 7 141799458 141799458 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141799458C>T ENST00000475668.2 + 67 7849 c.7795C>T c.(7795-7797)Cct>Tct p.P2599S MGAM_ENST00000549489.2_Missense_Mutation_p.P1703S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1703 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTGCCAGCCCCTCTTGACCA 0.527000 28 60 0 0 0.00127121 0 0 ZNF536 9745 broad.mit.edu 37 19 31025854 31025854 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31025854G>A ENST00000355537.3 + 3 2418 c.2271G>A c.(2269-2271)ggG>ggA p.G757G NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 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) CGTACTGTGGGAAAACTTTCC 0.597000 35 98 0 0 0.000814825 0 0 SASH3 54440 broad.mit.edu 37 X 128924974 128924974 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:128924974G>A ENST00000356892.3 + 4 473 c.359G>A c.(358-360)aGc>aAc p.S120N NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 120 breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 AGCCTGGACAGCCCTGGCCCT 0.617000 55 3 0 0 0.000781405 0 0 ACACB 32 broad.mit.edu 37 12 109639469 109639469 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109639469C>T ENST00000338432.7 + 19 2995 c.2876C>T c.(2875-2877)gCc>gTc p.A959V ACACB_ENST00000377854.5_Missense_Mutation_p.A959V|ACACB_ENST00000377848.3_Missense_Mutation_p.A959V O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 959 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGCGTGGTGGCCAGGCTGGAG 0.587000 34 26 0 0 0.000692331 0 0 ZNF229 7772 broad.mit.edu 37 19 44933669 44933669 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:44933669C>T ENST00000291187.4 - 6 1591 c.1269G>A c.(1267-1269)ggG>ggA p.G423G ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.G429G NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGGGCTTCTCCCCTGTGTGCA 0.537000 9 35 0 0 0.000274275 0 0 IGHV3-49 28423 broad.mit.edu 37 14 107013112 107013112 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:107013112C>T ENST00000390625.2 - 0 262 CCAGCCCCTTCCCTGGAGCCT 0.532000 17 55 0 0 0.000566183 0 0 MIA3 375056 broad.mit.edu 37 1 222838656 222838656 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:222838656G>T ENST00000344922.5 + 28 5444 c.5419G>T c.(5419-5421)Ggt>Tgt p.G1807C MIA3_ENST00000340535.7_Missense_Mutation_p.G685C|MIA3_ENST00000344441.6_Missense_Mutation_p.G1807C|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1807 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TCCAGGCCCTGGTATGCGTCC 0.438000 9 419 0.000673444 0.00246429 0.000673444 1 0 OR2T3 343173 broad.mit.edu 37 1 248637552 248637552 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248637552G>A ENST00000359594.2 + 1 926 c.901G>A c.(901-903)Gat>Aat p.D301N NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) CCGCAACAAAGATGTCACCAG 0.478000 17 297 0 0 0.00278032 0 0 TMC3 342125 broad.mit.edu 37 15 81636269 81636269 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:81636269C>T ENST00000558726.1 - 14 1774 c.1639G>A c.(1639-1641)Gag>Aag p.E547K TMC3_ENST00000359440.5_Missense_Mutation_p.E546K|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 546 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 AACTTGCTCTCCAGATCCCAA 0.453000 17 9 0 0 0.00121646 0 0 GNAS 2778 broad.mit.edu 37 20 57429142 57429142 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:57429142C>T ENST00000306120.3 + 1 632 c.632C>T c.(631-633)cCc>cTc p.P211L GNAS_ENST00000371100.4_Silent_p.P274P|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.P274P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Silent_p.P274P|GNAS_ENST00000464624.2_3'UTR P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACGCGCCTCCCCTCTGGGTCC 0.677000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 12 20 0 0 0.000422831 0 0 MID2 11043 broad.mit.edu 37 X 107169963 107169963 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:107169963C>T ENST00000262843.6 + 10 2416 c.1868C>T c.(1867-1869)tCc>tTc p.S623F MID2_ENST00000443968.2_Missense_Mutation_p.S593F|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 623 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AAGAATGCCTCCTCATGGGTC 0.468000 17 15 0 0 0.000422831 0 0 TMEM184B 25829 broad.mit.edu 37 22 38642014 38642014 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38642014G>A ENST00000361906.3 - 3 493 c.285C>T c.(283-285)tcC>tcT p.S95S TMEM184B_ENST00000361684.4_Silent_p.S95S NM_001195072.1|NM_012264.4 NP_001182001.1|NP_036396.2 Q9Y519 T184B_HUMAN transmembrane protein 184B 95 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) GGCTGAGCCAGGAGTCAAAGG 0.607000 28 127 0 0 0.00178596 0 0 TRIM55 84675 broad.mit.edu 37 8 67062607 67062607 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:67062607G>A ENST00000315962.4 + 7 1264 c.891G>A c.(889-891)atG>atA p.M297I TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.M297I|TRIM55_ENST00000276573.7_Missense_Mutation_p.M297I NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 297 COS. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CATTTCAGATGGAGAAAATAG 0.378000 18 31 0 0 0.000958276 0 0 MYO15A 51168 broad.mit.edu 37 17 18042918 18042918 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:18042918G>A ENST00000205890.5 + 19 5542 c.5204G>A c.(5203-5205)cGg>cAg p.R1735Q MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1735 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GTACGGAGCCGGACACGGGTA 0.637000 11 14 0 0 0.00136819 0 0 TECPR2 9895 broad.mit.edu 37 14 102843242 102843242 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:102843242C>T ENST00000359520.7 + 2 410 c.184C>T c.(184-186)Cgg>Tgg p.R62W TECPR2_ENST00000558678.1_Missense_Mutation_p.R62W|TECPR2_ENST00000561228.1_3'UTR NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 62 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 TCTGTACTGCCGGCACCTCAA 0.557000 8 32 0 0 0.000442599 0 0 DNAH8 1769 broad.mit.edu 37 6 38759333 38759333 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:38759333C>T ENST00000359357.3 + 19 2387 c.2133C>T c.(2131-2133)atC>atT p.I711I DNAH8_ENST00000441566.1_Silent_p.I711I|DNAH8_ENST00000449981.2_Silent_p.I928I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CCTTGTAGATCAGTGACTTGT 0.348000 16 16 0 0 0.000308642 0 0 DNAH5 1767 broad.mit.edu 37 5 13718991 13718991 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13718991C>T ENST00000265104.4 - 72 12603 c.12499_splice c.e72+1 p.G4167_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4167 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGGACTCACCACTATATGTT 0.388000 Kartagener syndrome 11 44 0 0 0.000978159 0 0 VSX2 338917 broad.mit.edu 37 14 74727351 74727351 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:74727351G>A ENST00000261980.2 + 5 905 c.815G>A c.(814-816)gGg>gAg p.G272E NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 272 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) AAGCCCGAGGGGGAACGCCAG 0.612000 10 22 0 0 0.000978159 0 0 COL16A1 1307 broad.mit.edu 37 1 32164197 32164197 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:32164197G>A ENST00000373672.3 - 5 793 c.277C>T c.(277-279)Cct>Tct p.P93S COL16A1_ENST00000271069.6_Missense_Mutation_p.P93S|COL16A1_ENST00000373668.3_Missense_Mutation_p.P93S NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 93 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) AGACCCCGAGGGAATACTCTT 0.572000 13 42 0 0 0.00185496 0 0 ADAM9 8754 broad.mit.edu 37 8 38913098 38913098 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:38913098C>T ENST00000487273.2 + 14 1476 c.1398C>T c.(1396-1398)ttC>ttT p.F466F NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 466 Disintegrin. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TTCACTAGTTCCTTCCAGGAG 0.358000 14 21 0 0 0.000308642 0 0 GGA3 23163 broad.mit.edu 37 17 73257653 73257653 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:73257653C>T ENST00000245541.6 - 1 232 c.16G>A c.(16-18)Ggg>Agg p.G6R GGA3_ENST00000578348.1_Intron|GGA3_ENST00000538886.1_5'UTR|GGA3_ENST00000537686.1_Missense_Mutation_p.G6R|GGA3_ENST00000351904.7_Missense_Mutation_p.G6R|GGA3_ENST00000579743.1_Intron|GGA3_ENST00000582717.1_Intron|GGA3_ENST00000582486.1_Intron NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 6 Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) AGGCTTTCCCCTTCCGCCTCC 0.697000 7 27 0 0 0.000157383 0 0 TTN 7273 broad.mit.edu 37 2 179621439 179621439 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179621439C>T ENST00000589042.1 - 46 10988 c.10764G>A c.(10762-10764)aaG>aaA p.K3588K TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Silent_p.K3417K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3274 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCTCTCCTCCTTTGTGAAAG 0.408000 18 18 0 0 0.00074312 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182909513 182909513 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:182909513C>T ENST00000367547.3 - 3 957 c.721G>A c.(721-723)Gga>Aga p.G241R SHCBP1L_ENST00000423786.1_Missense_Mutation_p.G122R|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 313 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 GTATCTTGTCCCTCAACAGGA 0.353000 29 114 0 0 0.00283554 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120345286 120345286 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120345286A>C ENST00000397843.2 + 32 3217 c.3051A>C c.(3049-3051)aaA>aaC p.K1017N ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K998N|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K914N NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1017 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATTTAACAAAAAGGAAGATGA 0.323000 T MLL AML 39 39 0 0 0.000781405 0 0 TCL6 27004 broad.mit.edu 37 14 96136862 96136862 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96136862C>T ENST00000467865.1 + 0 1972 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) GTCCTTTTTTCCTTCCTTCTC 0.502000 T TRA@ T-ALL 10 32 0 0 0.000442599 0 0 PZP 5858 broad.mit.edu 37 12 9345244 9345244 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:9345244G>A ENST00000261336.2 - 12 1374 c.1346C>T c.(1345-1347)tCc>tTc p.S449F PZP_ENST00000381997.2_Missense_Mutation_p.S318F NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCCACTTAAGGAGAAAACACG 0.498000 29 59 0 0 0.0024448 0 0 PHKA2 5256 broad.mit.edu 37 X 18942232 18942232 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:18942232G>A ENST00000379942.4 - 17 2400 c.1735C>T c.(1735-1737)Cat>Tat p.H579Y NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 579 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ACAGCAGAATGAATGTCTGAG 0.358000 44 55 0 0 0.000680045 0 0 RTP3 83597 broad.mit.edu 37 3 46542035 46542035 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46542035G>A ENST00000296142.3 + 2 917 c.345G>A c.(343-345)ctG>ctA p.L115L NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 115 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CAAGGATCCTGAAAAACCTGG 0.463000 53 64 0 0 0.000781405 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169713205 169713205 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:169713205G>A ENST00000444448.2 + 15 1617 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E381K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E246K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E246K|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E324K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E296K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E296K Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 324 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 TTCAGGCCTGGAACGAATGCT 0.483000 22 60 0 0 0.00229938 0 0 CCDC159 126075 broad.mit.edu 37 19 11460799 11460799 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11460799C>T ENST00000588790.1 + 6 597 c.150C>T c.(148-150)ttC>ttT p.F50F CCDC159_ENST00000458408.1_Silent_p.F50F P0C7I6 CC159_HUMAN coiled-coil domain containing 159 165 endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 5 CCCAGGCTTTCGAGTTCCTGA 0.562000 5 21 0 0 0.000602214 0 0 ALK 238 broad.mit.edu 37 2 29519850 29519850 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:29519850C>T ENST00000389048.3 - 9 2627 c.1721G>A c.(1720-1722)gGg>gAg p.G574E ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 574 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TTGCTCCTTCCCGGTTTTGTT 0.567000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 16 34 0 0 0.000422831 0 0 MYH8 4626 broad.mit.edu 37 17 10317277 10317277 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10317277C>T ENST00000403437.2 - 12 1183 c.1089G>A c.(1087-1089)ggG>ggA p.G363G CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 363 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATTTCATGTTCCCATAATGCA 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 48 51 0 0 0.000781405 0 0 SLC17A4 10050 broad.mit.edu 37 6 25776930 25776930 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25776930C>T ENST00000377905.4 + 9 1214 c.1095C>T c.(1093-1095)acC>acT p.T365T SLC17A4_ENST00000439485.2_Silent_p.T135T|SLC17A4_ENST00000397076.2_Silent_p.T135T NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 365 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GACTCATCACCATCAGGAAAC 0.488000 16 30 0 0 0.000422831 0 0 IGHM 3507 broad.mit.edu 37 14 106320563 106320563 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106320563G>A ENST00000390559.2 - 0 1246 GGCCTCATGGGCCACCACGCA 0.632000 17 39 0 0 0.000566183 0 0 LTBP2 4053 broad.mit.edu 37 14 74967682 74967682 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:74967682C>T ENST00000261978.4 - 36 5757 c.5371G>A c.(5371-5373)Ggt>Agt p.G1791S LTBP2_ENST00000556690.1_Missense_Mutation_p.G1747S NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1791 EGF-like 20; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCGCAGTAACCATGGACACAG 0.587000 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 20 0 0 0.000673444 0 0 PKP4 8502 broad.mit.edu 37 2 159481448 159481448 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:159481448C>T ENST00000389757.3 + 7 787 c.662C>T c.(661-663)tCt>tTt p.S221F PKP4_ENST00000389759.3_Missense_Mutation_p.S221F NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 221 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 AGAGCACAGTCTCCTTCTTAT 0.512000 HNSCC(62;0.18) 33 105 0 0 0.00111076 0 0 TTC25 83538 broad.mit.edu 37 17 40093094 40093094 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:40093094C>T ENST00000591658.1 + 0 607 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TGGAAGGCCTCGCTCAAGAGT 0.512000 31 81 0 0 0.00283554 0 0 SLC12A3 6559 broad.mit.edu 37 16 56906280 56906280 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:56906280C>T ENST00000438926.2 + 7 899 c.870C>T c.(868-870)ttC>ttT p.F290F SLC12A3_ENST00000566786.1_Silent_p.F289F|SLC12A3_ENST00000262502.5_Silent_p.F289F|SLC12A3_ENST00000563236.1_Silent_p.F290F NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 290 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGCTGTTCTTCCTTGTCATCA 0.552000 8 43 0 0 0.000274275 0 0 FCGBP 8857 broad.mit.edu 37 19 40357711 40357711 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:40357711G>A ENST00000221347.6 - 34 15609 c.15602C>T c.(15601-15603)tCc>tTc p.S5201F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5201 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGAGCTTGAGGAACAGGAACA 0.602000 8 40 0 0 0.000442599 0 0 CHST11 50515 broad.mit.edu 37 12 105150977 105150977 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:105150977C>T ENST00000303694.5 + 3 894 c.455C>T c.(454-456)gCc>gTc p.A152V CHST11_ENST00000549260.1_Missense_Mutation_p.A147V NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 152 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GAGATCCCGGCCAACGAGGCA 0.572000 10 48 0 0 0.000978159 0 0 CD163 9332 broad.mit.edu 37 12 7653826 7653826 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7653826C>T ENST00000359156.4 - 3 568 c.366G>A c.(364-366)ggG>ggA p.G122G CD163_ENST00000432237.2_Silent_p.G122G|CD163_ENST00000541972.1_Silent_p.G110G|CD163_ENST00000396620.3_Silent_p.G122G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 122 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CTGACTCATTCCCACGACAAG 0.483000 76 49 0 0 0.000781405 0 0 YIPF7 285525 broad.mit.edu 37 4 44626725 44626725 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:44626725G>A ENST00000332990.5 - 5 589 c.573C>T c.(571-573)aaC>aaT p.N191N NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 191 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 AGCTCATCAGGTTCAGCAAGG 0.512000 4 15 0 0 0.00024832 0 0 SPEG 10290 broad.mit.edu 37 2 220348742 220348742 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220348742C>T ENST00000312358.7 + 30 6689 c.6557C>T c.(6556-6558)cCc>cTc p.P2186L SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2186 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCCCCAAACCCAGTACCCCT 0.672000 10 47 0 0 0.000673444 0 0 ZNF229 7772 broad.mit.edu 37 19 44933871 44933871 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:44933871G>A ENST00000291187.4 - 6 1389 c.1067C>T c.(1066-1068)tCg>tTg p.S356L ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.S362L NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AAGAAGAACCGATTTATACCT 0.498000 31 90 0 0 0.00209593 0 0 SNHG14 104472715 broad.mit.edu 37 15 25324137 25324137 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:25324137C>T ENST00000549804.2 + 0 1372 TGGATCCCTTCATACGGTATG 0.478000 15 7 0 0 0.00244969 0 0 SORCS3 22986 broad.mit.edu 37 10 107022168 107022168 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:107022168G>A ENST00000369701.3 + 26 3750 c.3523G>A c.(3523-3525)Gaa>Aaa p.E1175K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1175 integral to membrane neuropeptide receptor activity p.E1175K(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGCCAAAGTGAAAACGCCCC 0.507000 10 19 0 0 0.000978159 0 0 RWDD4 201965 broad.mit.edu 37 4 184572254 184572254 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:184572254G>A ENST00000326397.5 - 4 518 c.246C>T c.(244-246)gcC>gcT p.A82A RWDD4_ENST00000327570.9_Silent_p.A82A|RWDD4_ENST00000512740.1_Silent_p.A19A|RWDD4_ENST00000510968.1_5'UTR NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 82 RWD. large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 CCTGTAGCTTGGCTAATATAC 0.368000 16 38 0 0 0.000308642 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733493 56733493 + Silent SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56733493T>A ENST00000587340.1 - 7 1637 c.942A>T c.(940-942)ggA>ggT p.G314G ZSCAN5A_ENST00000592355.1_Silent_p.G313G|ZSCAN5A_ENST00000254165.3_Silent_p.G197G|ZSCAN5A_ENST00000587492.1_Silent_p.G168G|ZSCAN5A_ENST00000391713.1_Silent_p.G314G Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 314 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GTGTGGCTTCTCCTTGAGGCT 0.562000 40 99 0 0 0.00148497 0 0 RAB27B 5874 broad.mit.edu 37 18 52556538 52556538 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:52556538G>A ENST00000262094.5 + 6 1072 c.551G>A c.(550-552)cGa>cAa p.R184Q RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 184 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity p.R184Q(1) large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) ATCATGAAGCGAATGGAACAG 0.418000 11 45 0 0 0.00136819 0 0 KRT2 3849 broad.mit.edu 37 12 53042018 53042018 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:53042018G>A ENST00000309680.3 - 5 1082 c.1061C>T c.(1060-1062)gCc>gTc p.A354V NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 354 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CTCATACTGGGCCTTGACCTC 0.552000 42 99 0 0 0.00222228 0 0 VPS13C 54832 broad.mit.edu 37 15 62253984 62253984 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:62253984G>A ENST00000261517.5 - 35 3785 c.3712C>T c.(3712-3714)Cgt>Tgt p.R1238C VPS13C_ENST00000395898.3_Missense_Mutation_p.R1195C|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1195C|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1238C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1238 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATGGAAACACGAAAACTCCTC 0.458000 19 43 0 0 0.00074312 0 0 IVL 3713 broad.mit.edu 37 1 152883861 152883861 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152883861C>T ENST00000368764.3 + 2 1652 c.1588C>T c.(1588-1590)Ctg>Ttg p.L530L IVL_ENST00000392667.2_Silent_p.L384L P07476 INVO_HUMAN involucrin 530 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ggaggggcagctgaaggacct 0.597000 15 13 0 0 0.00244969 0 0 ATG4B 23192 broad.mit.edu 37 2 242610752 242610752 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:242610752C>T ENST00000405546.3 + 12 1542 c.1040C>T c.(1039-1041)cCc>cTc p.P347L ATG4B_ENST00000474739.2_Missense_Mutation_p.P333L|ATG4B_ENST00000396411.3_Missense_Mutation_p.P273L|ATG4B_ENST00000402096.1_Missense_Mutation_p.P273L|ATG4B_ENST00000404914.3_Missense_Mutation_p.P347L Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 347 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) GGTGCCCTGCCCATGTTTGAG 0.627000 6 19 0 0 0.00198382 0 0 NOX4 50507 broad.mit.edu 37 11 89135579 89135579 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:89135579C>T ENST00000535633.1 - 9 999 c.689G>A c.(688-690)gGa>gAa p.G230E NOX4_ENST00000263317.4_Missense_Mutation_p.G254E|NOX4_ENST00000532825.1_Missense_Mutation_p.G230E|NOX4_ENST00000343727.5_Missense_Mutation_p.G230E|NOX4_ENST00000527956.1_Missense_Mutation_p.G230E|NOX4_ENST00000528341.1_Missense_Mutation_p.G229E|NOX4_ENST00000542487.1_Missense_Mutation_p.G230E|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.G230E|NOX4_ENST00000527626.1_Missense_Mutation_p.G88E|NOX4_ENST00000534731.1_Missense_Mutation_p.G254E|NOX4_ENST00000413594.2_Missense_Mutation_p.G275E|NOX4_ENST00000375979.3_Intron NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 254 Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TTTTGAAAATCCTTCAGGGAA 0.423000 22 27 0 0 0.00278032 0 0 NUAK1 9891 broad.mit.edu 37 12 106460902 106460902 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:106460902C>T ENST00000261402.2 - 7 3043 c.1664G>A c.(1663-1665)gGt>gAt p.G555D NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 555 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GGCAGGGACACCAGGCTCTGA 0.587000 29 19 0 0 0.0024448 0 0 DUSP10 11221 broad.mit.edu 37 1 221913008 221913008 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:221913008A>C ENST00000366899.3 - 2 317 c.79T>G c.(79-81)Tta>Gta p.L27V DUSP10_ENST00000323825.3_Intron NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 27 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) CTAGAGTCTAAACAAAGGTTG 0.542000 31 147 0 0 0.000692331 0 0 INSL6 11172 broad.mit.edu 37 9 5164164 5164164 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:5164164A>T ENST00000381641.3 - 2 456 c.391T>A c.(391-393)Ttt>Att p.F131I INSL6_ENST00000510407.1_Intron NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 131 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GATGAAGAAAATTCTCTTGTC 0.338000 26 4 0 0 0.000586117 0 0 AGAP1 116987 broad.mit.edu 37 2 236957795 236957795 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:236957795C>T ENST00000409538.1 + 15 3116 c.2620C>T c.(2620-2622)Cga>Tga p.R874* AGAP1_ENST00000428334.2_Nonsense_Mutation_p.R501*|AGAP1_ENST00000304032.7_Nonsense_Mutation_p.R662*|AGAP1_ENST00000336665.5_Nonsense_Mutation_p.R609* Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 662 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TTCCCGAGTCCGATCTCTGGA 0.577000 26 76 0 0 0.00178596 0 0 GHITM 27069 broad.mit.edu 37 10 85901294 85901294 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:85901294C>G ENST00000372134.3 + 2 231 c.38C>G c.(37-39)cCt>cGt p.P13R NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 13 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 CGGACACTACCTTCTAGGGTT 0.483000 12 22 0 0 0.00185496 0 0 LBH 81606 broad.mit.edu 37 2 30480424 30480424 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:30480424C>T ENST00000395323.3 + 3 463 c.255C>T c.(253-255)ttC>ttT p.F85F LBH_ENST00000404397.1_Intron|LBH_ENST00000407930.2_Silent_p.F68F|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Silent_p.F91F|LBH_ENST00000467242.1_3'UTR NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development 85 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) CTGAGGAGTTCCTGGTCCAGG 0.577000 16 55 0 0 0.000566183 0 0 STAB2 55576 broad.mit.edu 37 12 103984744 103984744 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:103984744G>A ENST00000388887.2 + 2 355 c.151G>A c.(151-153)Gga>Aga p.G51R NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 51 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCTCAACCTTGGAGTCAAGTG 0.423000 36 24 0 0 0.00128727 0 0 SPATA6 54558 broad.mit.edu 37 1 48764525 48764525 + Missense_Mutation SNP C C T rs147329302 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:48764525C>T ENST00000371847.3 - 13 1491 c.1327G>A c.(1327-1329)Ggt>Agt p.G443S SPATA6_ENST00000396199.3_Missense_Mutation_p.G371S|SPATA6_ENST00000371843.3_Missense_Mutation_p.G427S NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 443 cell differentiation|multicellular organismal development|spermatogenesis extracellular region breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 CAGTATTCACCGTCATCCAAA 0.398000 24 89 0 0 0.00047179 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156526 70156526 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:70156526C>T ENST00000335568.5 + 5 1309 c.1307C>T c.(1306-1308)cCt>cTt p.P436L UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 436 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATTAATGATCCTTCGTGAGTA 0.398000 9 5 0 0 0.000442599 0 0 CNTN4 152330 broad.mit.edu 37 3 2942488 2942488 + Missense_Mutation SNP G G A rs145270510 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:2942488G>A ENST00000397461.1 + 10 1444 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K CNTN4_ENST00000358480.3_Missense_Mutation_p.E135K|CNTN4_ENST00000418658.1_Missense_Mutation_p.E354K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E26K|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.E26K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E354K NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 354 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAAAAATGGCGAACCTCTGCT 0.398000 14 55 0 0 0.00244969 0 0 TNNI1 7135 broad.mit.edu 37 1 201384368 201384368 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201384368G>A ENST00000361379.4 - 4 122 c.30C>T c.(28-30)atC>atT p.I10I TNNI1_ENST00000336092.4_Silent_p.I10I|TNNI1_ENST00000367312.1_Silent_p.I10I|TNNI1_ENST00000555948.1_Silent_p.I10I NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 10 Involved in binding TNC. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 GGGAGGCAGTGATCTTGGGTT 0.587000 9 46 0 0 0.000442599 0 0 SFI1 9814 broad.mit.edu 37 22 32009473 32009473 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:32009473T>C ENST00000432498.1 + 25 2999 c.2606T>C c.(2605-2607)aTg>aCg p.M869T SFI1_ENST00000400289.1_Missense_Mutation_p.M818T|SFI1_ENST00000443326.1_Missense_Mutation_p.M818T|SFI1_ENST00000540643.1_Missense_Mutation_p.M845T|SFI1_ENST00000443011.1_Missense_Mutation_p.M747T|SFI1_ENST00000400288.2_Missense_Mutation_p.M900T|SFI1_ENST00000414585.1_Missense_Mutation_p.M747T NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 900 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GCAGCCAGCATGAAGGCCTCC 0.692000 5 25 0 0 0.000157383 0 0 COL15A1 1306 broad.mit.edu 37 9 101824273 101824273 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:101824273G>A ENST00000375001.3 + 37 3846 c.3423G>A c.(3421-3423)atG>atA p.M1141I NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1141 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCAGCAACATGGATGACATGC 0.423000 75 67 0 0 0.000781405 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255124 9255124 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:9255124C>T ENST00000383440.2 + 8 2047 c.1790C>T c.(1789-1791)tCa>tTa p.S597L ANKRD12_ENST00000400020.3_Missense_Mutation_p.S597L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S620L NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 620 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GGTGAAAAATCAAATGCCAAA 0.294000 44 76 0 0 0.00285205 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723605 140723605 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140723605C>T ENST00000253812.6 + 1 5 c.5C>T c.(4-6)aCc>aTc p.T2I PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGAAATGACCAATTGCCTG 0.522000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 137 0 0 0.000781405 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561420 11561420 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11561420T>C ENST00000294484.6 + 2 509 c.371T>C c.(370-372)cTg>cCg p.L124P PTCHD2_ENST00000389575.3_Missense_Mutation_p.L124P NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 124 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTCTCACTCTGGCGCTTAAG 0.572000 8 57 0 0 0.000274275 0 0 GP2 2813 broad.mit.edu 37 16 20335551 20335551 + Missense_Mutation SNP G G A rs140222432 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20335551G>A ENST00000302555.5 - 3 271 c.122C>T c.(121-123)tCg>tTg p.S41L GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S41L P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 41 anchored to membrane|extracellular region|plasma membrane p.S41L(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CAGCCCATACGAACTGGCTTC 0.532000 15 36 0 0 0.000566183 0 0 LTBR 4055 broad.mit.edu 37 12 6499962 6499962 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6499962C>T ENST00000228918.4 + 10 1493 c.1167C>T c.(1165-1167)ccC>ccT p.P389P LTBR_ENST00000541102.1_Silent_p.P246P|LTBR_ENST00000539925.1_Silent_p.P370P NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 389 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 ACCCCATTCCCGAAGAGGGGG 0.617000 28 46 0 0 0.000878237 0 0 FAM71C 196472 broad.mit.edu 37 12 100043168 100043168 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:100043168G>A ENST00000324341.1 + 2 1140 c.718G>A c.(718-720)Gag>Aag p.E240K ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 240 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) TTATACAATAGAGATATGAAT 0.413000 32 90 0 0 0.00058488 0 0 THSD7B 80731 broad.mit.edu 37 2 138413132 138413132 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:138413132C>T ENST00000409968.1 + 22 4185 c.4007C>T c.(4006-4008)tCa>tTa p.S1336L THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S1339L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1308L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CACAGTGGTTCAATATCTCAT 0.507000 6 11 0 0 0.00198382 0 0 TICAM1 148022 broad.mit.edu 37 19 4816467 4816467 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:4816467G>A ENST00000248244.5 - 2 2152 c.1923C>T c.(1921-1923)ccC>ccT p.P641P NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 641 Pro-rich.|Sufficient to induce apoptosis. Missing (in Ref. 6; AAO85488). apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGGGCGGTGGGGGGGTGCCAG 0.731000 5 16 0 0 0.000602214 0 0 TTN 7273 broad.mit.edu 37 2 179466271 179466271 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179466271C>T ENST00000589042.1 - 287 55677 c.55453G>A c.(55453-55455)Gat>Aat p.D18485N TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16844N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9545N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9612N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15917N|TTN_ENST00000460472.2_Missense_Mutation_p.D9420N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16844 Ig-like 106. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTTCAGATCTTTGGGTGGG 0.388000 21 61 0 0 0.00278032 0 0 FOXO3 2309 broad.mit.edu 37 6 108984964 108984964 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:108984964C>T ENST00000406360.1 + 2 1271 c.928C>T c.(928-930)Cgt>Tgt p.R310C FOXO3_ENST00000343882.6_Missense_Mutation_p.R310C|FOXO3_ENST00000540898.1_Missense_Mutation_p.R90C NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 310 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GACGGACTTCCGTTCACGCAC 0.607000 7 8 0 0 0.00198382 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206905044 206905044 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:206905044G>A ENST00000367103.3 + 8 1145 c.952G>A c.(952-954)Gag>Aag p.E318K MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.E318K|MAPKAPK2_ENST00000479009.1_3'UTR NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 318 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|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|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GACCATCACCGAGTTTATGAA 0.562000 46 192 0 0 0.000781405 0 0 RABL3 285282 broad.mit.edu 37 3 120449619 120449619 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:120449619G>A ENST00000273375.3 - 2 91 c.62C>T c.(61-63)tCg>tTg p.S21L RABL3_ENST00000483733.1_Missense_Mutation_p.S21L|RABL3_ENST00000491398.1_5'UTR NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 21 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) ATGGACTAACGAAGATTTCCC 0.398000 12 50 0 0 0.00244969 0 0 AAAS 8086 broad.mit.edu 37 12 53708084 53708084 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:53708084G>A ENST00000209873.4 - 7 852 c.687C>T c.(685-687)acC>acT p.T229T AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Silent_p.T105T|AAAS_ENST00000394384.3_Silent_p.T196T NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 229 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 GGACTTACCGGGTAGACAAGG 0.562000 44 108 0 0 0.000781405 0 0 ZNF418 147686 broad.mit.edu 37 19 58437893 58437893 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58437893G>A ENST00000396147.1 - 4 1947 c.1656C>T c.(1654-1656)tcC>tcT p.S552S ZNF418_ENST00000599852.1_Silent_p.S467S|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.S573S|ZNF418_ENST00000595830.1_Silent_p.S552S NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GTCGAAGGAGGGAAGAGCTCT 0.453000 24 82 0 0 0.00106085 0 0 NFRKB 4798 broad.mit.edu 37 11 129751382 129751382 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129751382G>A ENST00000446488.3 - 12 1443 c.1340C>T c.(1339-1341)cCa>cTa p.P447L NFRKB_ENST00000524746.1_Missense_Mutation_p.P447L|NFRKB_ENST00000304521.5_Missense_Mutation_p.P447L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P472L NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 447 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTCAACAAATGGAGAGAAACT 0.453000 OREG0021512 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 22 0 0 0.000958276 0 0 ZNF536 9745 broad.mit.edu 37 19 31039511 31039511 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31039511G>A ENST00000355537.3 + 4 3132 c.2985G>A c.(2983-2985)caG>caA p.Q995Q NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 995 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 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) TAACTGTGCAGGACAGCATTG 0.582000 28 79 0 0 0.000720815 0 0 FRMD3 257019 broad.mit.edu 37 9 85926816 85926816 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:85926816G>A ENST00000304195.3 - 8 965 c.759C>T c.(757-759)atC>atT p.I253I FRMD3_ENST00000376434.1_Silent_p.I59I|FRMD3_ENST00000376438.1_Silent_p.I253I NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 253 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 TTATCAAATGGATTCTCTTAT 0.393000 15 49 0 0 0.00074312 0 0 DNAH3 55567 broad.mit.edu 37 16 20946786 20946786 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20946786G>A ENST00000261383.3 - 61 11880 c.11881C>T c.(11881-11883)Cct>Tct p.P3961S DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3961 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AATACCACAGGGGGCCCCTTG 0.418000 13 17 0 0 0.00185496 0 0 OR4C13 283092 broad.mit.edu 37 11 49974850 49974850 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:49974850G>A ENST00000555099.1 + 1 908 c.876G>A c.(874-876)atG>atA p.M292I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGCTCAAATGAAAAATGCCA 0.383000 6 16 0 0 0.00116845 0 0 ZBTB43 23099 broad.mit.edu 37 9 129594916 129594916 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:129594916T>A ENST00000373464.4 + 3 392 c.128T>A c.(127-129)aTt>aAt p.I43N ZBTB43_ENST00000373457.1_Missense_Mutation_p.I43N|ZBTB43_ENST00000449886.1_Missense_Mutation_p.I43N NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 43 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 CAAGGCCACATTTTCCGGGCA 0.468000 13 53 0 0 0.00136819 0 0 LRRC31 79782 broad.mit.edu 37 3 169578450 169578450 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:169578450C>T ENST00000316428.5 - 3 443 c.386G>A c.(385-387)gGa>gAa p.G129E LRRC31_ENST00000523069.1_Missense_Mutation_p.G129E|LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 129 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) AAGGAGGGTTCCACCTACAAA 0.453000 51 40 0 0 0.000781405 0 0 CTNND2 1501 broad.mit.edu 37 5 11159724 11159724 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:11159724G>A ENST00000304623.8 - 12 2312 c.2123C>T c.(2122-2124)tCa>tTa p.S708L CTNND2_ENST00000503622.1_Missense_Mutation_p.S371L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S708L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S617L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S275L|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 708 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CACCTGTGATGAATGCAGCTG 0.557000 48 33 0 0 0.000781405 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84582012 84582012 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:84582012A>C ENST00000286744.5 + 16 2093 c.1869A>C c.(1867-1869)gaA>gaC p.E623D ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E623D NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 623 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GCCTCCTGGAAGCATGTGATG 0.612000 13 5 0 0 0.00136819 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A rs11554290 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:115256529T>A ENST00000369535.4 - 3 435 c.182A>T c.(181-183)cAa>cTa p.Q61L NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 202 93 0 0 0.000781405 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870703 51870703 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:51870703G>A ENST00000371497.5 + 2 1593 c.706G>A c.(706-708)Gaa>Aaa p.E236K TSHZ2_ENST00000329613.6_Missense_Mutation_p.E233K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E233K NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 236 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCACATGAATGAAACGGGCCA 0.532000 11 43 0 0 0.000978159 0 0 ELAC2 60528 broad.mit.edu 37 17 12899106 12899106 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:12899106G>A ENST00000338034.4 - 19 1961 c.1722C>T c.(1720-1722)caC>caT p.H574H ELAC2_ENST00000395962.2_Silent_p.H555H|ELAC2_ENST00000426905.3_Silent_p.H534H NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 574 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CCAGCAAAGGGTGAAGCGGCT 0.552000 5 10 0 0 0.00116845 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117969729 117969729 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:117969729C>T ENST00000534111.1 + 3 332 c.67C>T c.(67-69)Ccc>Tcc p.P23S TMPRSS4_ENST00000437212.3_Missense_Mutation_p.P25S|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.P25S|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522307.1_5'UTR NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 25 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) ACCCCGTATCCCCATGGAGAC 0.537000 22 24 0 0 0.00278032 0 0 TTN 7273 broad.mit.edu 37 2 179605087 179605087 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179605087G>A ENST00000589042.1 - 48 13097 c.12873C>T c.(12871-12873)gtC>gtT p.V4291V TTN_ENST00000591111.1_Silent_p.V3974V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.V4053V|TTN_ENST00000342175.6_Silent_p.V4120V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.V3928V|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3974 Ig-like 23. I -> T (in a colorectal adenocarcinoma sample; somatic mutation). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTCTGAAGGGACTAGGGGCT 0.468000 11 13 0 0 0.000673444 0 0 HCLS1 3059 broad.mit.edu 37 3 121350806 121350806 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121350806C>T ENST00000314583.3 - 14 1439 c.1348G>A c.(1348-1350)Gat>Aat p.D450N HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.D413N NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 450 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TCGTCCGGATCAAAGGAAAGC 0.493000 76 44 0 0 0.000781405 0 0 INSC 387755 broad.mit.edu 37 11 15212315 15212315 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:15212315C>T ENST00000379554.3 + 6 835 c.789C>T c.(787-789)ttC>ttT p.F263F INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Silent_p.F216F|INSC_ENST00000379556.3_Silent_p.F216F|INSC_ENST00000528567.1_Silent_p.F216F|INSC_ENST00000525218.1_Silent_p.F216F|INSC_ENST00000424273.1_Silent_p.F216F NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 263 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GGAACCTGTTCAGCCTGACCC 0.507000 34 42 0 0 0.00170553 0 0 TFAP2D 83741 broad.mit.edu 37 6 50696616 50696616 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:50696616G>A ENST00000008391.3 + 4 874 c.646G>A c.(646-648)Ggc>Agc p.G216S TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 216 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CTCTGTCCCTGGCCGTTTGTC 0.468000 23 13 0 0 0.000586117 0 0 OR52A1 23538 broad.mit.edu 37 11 5172912 5172912 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5172912G>A ENST00000380367.1 - 2 1105 c.688C>T c.(688-690)Cgt>Tgt p.R230C OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 230 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGCAAACGAAAAACTGTG 0.423000 13 20 0 0 0.00185496 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736325 12736325 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:12736325A>T ENST00000380682.1 + 16 3886 c.3380A>T c.(3379-3381)gAa>gTa p.E1127V NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1127 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGGAGGCCGAAGGGAAGGAA 0.527000 70 107 0 0 0.000781405 0 0 LRP2 4036 broad.mit.edu 37 2 170099481 170099481 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170099481C>T ENST00000263816.3 - 24 3937 c.3652G>A c.(3652-3654)Gat>Aat p.D1218N LRP2_ENST00000443831.1_Missense_Mutation_p.D1081N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1218 LDL-receptor class A 12. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCTGCTTCATCCGAGTTGTCA 0.398000 33 119 0 0 0.00283554 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471516 61471516 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:61471516C>T ENST00000398019.2 + 8 1115 c.790C>T c.(790-792)Cca>Tca p.P264S SERPINB7_ENST00000540675.1_Missense_Mutation_p.P247S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.P264S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P264S NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 264 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATGGACCAATCCAAGGCGAAT 0.328000 16 19 0 0 0.000422831 0 0 SCN2A 6326 broad.mit.edu 37 2 166172168 166172168 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166172168G>A ENST00000375437.2 + 11 1861 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q SCN2A_ENST00000283256.6_Missense_Mutation_p.R524Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R524Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R524Q NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 524 R -> Q. R -> L (in Ref. 1; AAA18895). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GACAGAGTCCGAAAATCGGAA 0.378000 20 56 0 0 0.00121646 0 0 ARMC9 80210 broad.mit.edu 37 2 232104718 232104718 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:232104718C>T ENST00000349938.4 + 9 1037 c.843C>T c.(841-843)agC>agT p.S281S ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 281 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TGCGGCAGAGCCTGGCGCATA 0.557000 11 11 0 0 0.000978159 0 0 DNAH5 1767 broad.mit.edu 37 5 13719030 13719030 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13719030G>A ENST00000265104.4 - 72 12564 c.12460C>T c.(12460-12462)Cca>Tca p.P4154S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4154 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGTCCTTGTGGAGGATCGTTG 0.448000 Kartagener syndrome 11 62 0 0 0.00185496 0 0 KCNH8 131096 broad.mit.edu 37 3 19554559 19554559 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:19554559C>T ENST00000328405.2 + 13 2443 c.2177C>T c.(2176-2178)tCc>tTc p.S726F NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 726 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 gaggCAGTCTCCCTCTCTCCC 0.532000 4 11 0 0 0.00024832 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890501 23890501 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:23890501G>A ENST00000532292.1 - 1 674 c.580C>T c.(580-582)Cag>Tag p.Q194* NM_019066.4 NP_061939.3 MAGE-like 2 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) GAGGCAGGCTGAAACTGGGAG 0.582000 14 63 0 0 0.000958276 0 0 ABCG2 9429 broad.mit.edu 37 4 89039399 89039399 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:89039399C>T ENST00000237612.3 - 7 1248 c.703G>A c.(703-705)Gga>Aga p.G235R ABCG2_ENST00000515655.1_Missense_Mutation_p.G235R NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 235 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) ATTGTTCGTCCCTGCTTAGAC 0.373000 18 41 0 0 0.00278032 0 0 COL4A4 1286 broad.mit.edu 37 2 227915743 227915743 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:227915743A>G ENST00000396625.3 - 33 3307 c.3100T>C c.(3100-3102)Tca>Cca p.S1034P COL4A4_ENST00000329662.7_Missense_Mutation_p.S1034P NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1034 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGACCAGTTGAGCCTGGAGGG 0.552000 20 88 0 0 0.00152264 0 0 KCND1 3750 broad.mit.edu 37 X 48826440 48826440 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:48826440C>T ENST00000218176.3 - 1 1536 c.239G>A c.(238-240)gGc>gAc p.G80D NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 80 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 GAAGTACTCGCCTGAGTCAGC 0.587000 6 14 0 0 0.000157383 0 0 OGFOD3 79701 broad.mit.edu 37 17 80373320 80373320 + Silent SNP G G A rs145904574 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:80373320G>A ENST00000313056.5 - 2 409 c.258C>T c.(256-258)atC>atT p.I86I OGFOD3_ENST00000329197.5_Silent_p.I86I NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 AGGGCACCTCGATGAATCTCC 0.582000 52 155 0 0 0.000781405 0 0 PRSS1 5644 broad.mit.edu 37 7 142460771 142460771 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142460771C>T ENST00000486171.1 + 6 703 c.686C>T c.(685-687)tCc>tTc p.S229F PRSS1_ENST00000311737.7_Missense_Mutation_p.S215F P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 215 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGAGTTGTCTCCTGGGGTGAT 0.502000 20 98 0 0 0.00188189 0 0 ZNF665 79788 broad.mit.edu 37 19 53668809 53668809 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53668809G>A ENST00000600412.1 - 2 854 c.739C>T c.(739-741)Cat>Tat p.H247Y ZNF665_ENST00000396424.3_Missense_Mutation_p.H312Y Q9H7R5 ZN665_HUMAN zinc finger protein 665 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TCCCCAGTATGAATTCTTCGA 0.433000 42 167 0 0 0.000781405 0 0 GRM1 2911 broad.mit.edu 37 6 146350696 146350696 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:146350696G>A ENST00000392299.2 + 2 513 c.43G>A c.(43-45)Gag>Aag p.E15K GRM1_ENST00000507907.1_Missense_Mutation_p.E15K|GRM1_ENST00000282753.1_Missense_Mutation_p.E15K|GRM1_ENST00000492807.2_Missense_Mutation_p.E15K|GRM1_ENST00000361719.2_Missense_Mutation_p.E15K|GRM1_ENST00000355289.4_Missense_Mutation_p.E15K Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 15 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GATCTTTTTGGAGGTGTCCCT 0.602000 44 72 0 0 0.000781405 0 0 CHD9 80205 broad.mit.edu 37 16 53357974 53357974 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:53357974C>T ENST00000566029.1 + 39 8022 c.7813C>T c.(7813-7815)Ccc>Tcc p.P2605S CHD9_ENST00000398510.3_Missense_Mutation_p.P2621S|CHD9_ENST00000447540.1_Missense_Mutation_p.P2606S|CHD9_ENST00000564845.1_Missense_Mutation_p.P2605S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2621 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TCTCACTGGTCCCGTTGTGAG 0.433000 29 74 0 0 0.00058488 0 0 BICD2 23299 broad.mit.edu 37 9 95481688 95481688 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:95481688C>T ENST00000356884.6 - 5 1306 c.1239G>A c.(1237-1239)gaG>gaA p.E413E BICD2_ENST00000375512.3_Silent_p.E413E NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 413 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CACGGTCCTTCTCGTTGTCCA 0.607000 11 57 0 0 0.000978159 0 0 CHRNB3 1142 broad.mit.edu 37 8 42591761 42591761 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:42591761G>A ENST00000289957.2 + 6 1505 c.1377G>A c.(1375-1377)taG>taA p.*459* NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 0 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTTACCATTAGGAATTTAAAA 0.413000 37 52 0 0 0.00170553 0 0 SORBS2 8470 broad.mit.edu 37 4 186545032 186545032 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:186545032G>A ENST00000431808.1 - 14 2102 c.1539C>T c.(1537-1539)ttC>ttT p.F513F SORBS2_ENST00000284776.7_Silent_p.F513F|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Silent_p.F613F|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.F417F O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 513 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TCAGCTTTTCGAATTCGGAGA 0.572000 26 59 0 0 0.00106085 0 0 RPL28 6158 broad.mit.edu 37 19 55899332 55899332 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55899332C>T ENST00000558131.1 + 3 229 c.221C>T c.(220-222)cCa>cTa p.P74L RPL28_ENST00000458349.2_Silent_p.T80T|RPL28_ENST00000558815.1_Silent_p.T80T|RPL28_ENST00000560055.1_Silent_p.T80T|RPL28_ENST00000344063.2_Silent_p.T80T|RPL28_ENST00000560583.1_Silent_p.T80T|RPL28_ENST00000559463.1_Silent_p.T80T P46779 RL28_HUMAN ribosomal protein L28 0 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) ATGTGCGGACCACCATCAACA 0.612000 81 68 0 0 0.000781405 0 0 PIK3CA 5290 broad.mit.edu 37 3 178947158 178947158 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:178947158G>A ENST00000263967.3 + 18 2751 c.2594G>A c.(2593-2595)gGc>gAc p.G865D NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 865 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGCAAAGGCGGCTTGAAAGGT 0.423000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 14 0 0 0.000157383 0 0 POLR2B 5431 broad.mit.edu 37 4 57860961 57860961 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:57860961C>A ENST00000381227.1 + 6 918 c.505C>A c.(505-507)Cgt>Agt p.R169S POLR2B_ENST00000314595.5_Missense_Mutation_p.R169S|POLR2B_ENST00000431623.2_Missense_Mutation_p.R94S|POLR2B_ENST00000441246.2_Missense_Mutation_p.R162S P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 169 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 binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) CTTGACAGATCGTGATCTTTG 0.338000 33 35 4.32679e-17 1.5983e-16 0.00148497 1 0 CACNA1H 8912 broad.mit.edu 37 16 1270807 1270807 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1270807C>T ENST00000348261.5 + 35 7123 c.6875C>T c.(6874-6876)tCc>tTc p.S2292F CACNA1H_ENST00000358590.4_Missense_Mutation_p.S2286F|CACNA1H_ENST00000565831.1_Missense_Mutation_p.S2286F NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2292 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ACCCCAGAATCCAGAGCTTCC 0.637000 40 25 0 0 0.00128727 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050037 42050037 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:42050037G>A ENST00000372584.1 - 3 1446 c.432C>T c.(430-432)ctC>ctT p.L144L HIVEP3_ENST00000429157.2_Silent_p.L144L|HIVEP3_ENST00000372583.1_Silent_p.L144L|HIVEP3_ENST00000247584.5_Silent_p.L144L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 144 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGAAGGAAGGAGCTGGCTCT 0.612000 72 75 0 0 0.000781405 0 0 NF1 4763 broad.mit.edu 37 17 29562966 29562966 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:29562966C>T ENST00000358273.4 + 29 4284 c.3901C>T c.(3901-3903)Ctg>Ttg p.L1301L NF1_ENST00000356175.3_Silent_p.L1301L NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1301 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACAAAAACTCCTGGATCCTTT 0.378000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 34 81 0 0 0.000814825 0 0 SRPX2 27286 broad.mit.edu 37 X 99922337 99922337 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:99922337G>A ENST00000373004.3 + 9 1456 c.1028G>A c.(1027-1029)cGa>cAa p.R343Q NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 343 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 GAGAAACAGCGACTCCTCATC 0.478000 27 32 0 0 0.00178596 0 0 SLC2A11 66035 broad.mit.edu 37 22 24219284 24219284 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:24219284C>T ENST00000345044.6 + 5 730 c.462C>T c.(460-462)ctC>ctT p.L154L SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Silent_p.L157L|AP000350.10_ENST00000433835.3_Silent_p.L119L|SLC2A11_ENST00000405847.1_Silent_p.L154L|SLC2A11_ENST00000398356.2_Silent_p.L161L Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 154 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 CTAAGGAGCTCCGAGGAGCTG 0.617000 65 19 0 0 0.000781405 0 0 OR4E2 26686 broad.mit.edu 37 14 22134146 22134146 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22134146C>T ENST00000408935.1 + 1 850 c.850C>T c.(850-852)Ccc>Tcc p.P284S NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTTGCTGAATCCCTTCATTTA 0.448000 9 20 0 0 0.000274275 0 0 KCTD19 146212 broad.mit.edu 37 16 67337157 67337157 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67337157G>A ENST00000304372.5 - 4 590 c.535C>T c.(535-537)Cta>Tta p.L179L KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 179 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ACCAGGTCTAGGGGCAGGAAG 0.572000 10 30 0 0 0.000673444 0 0 AGXT 189 broad.mit.edu 37 2 241808596 241808596 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:241808596G>A ENST00000307503.3 + 2 562 c.175G>A c.(175-177)Gag>Aag p.E59K NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 59 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GATCATGGACGAGATCAAGGA 0.617000 16 42 0 0 0.000566183 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372144 34372144 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:34372144G>A ENST00000297625.7 - 2 921 c.696C>T c.(694-696)ccC>ccT p.P232P NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 266 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) GTGGCTTGTAGGGCGTGTCGT 0.667000 12 24 0 0 0.000308642 0 0 MMP27 64066 broad.mit.edu 37 11 102573820 102573820 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:102573820C>T ENST00000260229.4 - 3 462 c.371G>A c.(370-372)cGa>cAa p.R124Q NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 124 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CACAGCAGCTCGTGCCATATC 0.358000 31 24 0 0 0.00058488 0 0 SPINK6 404203 broad.mit.edu 37 5 147585614 147585614 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:147585614G>A ENST00000325630.2 + 2 330 c.74G>A c.(73-75)gGa>gAa p.G25E NM_001195290.1|NM_205841.3 NP_001182219.1|NP_995313.2 Q6UWN8 ISK6_HUMAN serine peptidase inhibitor, Kazal type 6 25 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAGTCAGGGAGGACAGGTC 0.388000 78 44 0 0 0.000781405 0 0 RIPK4 54101 broad.mit.edu 37 21 43164098 43164098 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:43164098G>A ENST00000352483.2 - 8 1347 c.1283C>T c.(1282-1284)gCc>gTc p.A428V RIPK4_ENST00000332512.3_Missense_Mutation_p.A380V|RIPK4_ENST00000544709.1_Missense_Mutation_p.A317V|RIPK4_ENST00000542057.1_Missense_Mutation_p.A317V Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 380 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GGAAGAGAAGGCGGAGTCCAC 0.647000 20 41 0 0 0.00121646 0 0 EIF3A 8661 broad.mit.edu 37 10 120801560 120801560 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:120801560G>A ENST00000369144.3 - 19 3599 c.3472C>T c.(3472-3474)Ccc>Tcc p.P1158S EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P1124S NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1158 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CCCCGTCTGGGAAACCGATCA 0.473000 20 74 0 0 0.00152264 0 0 ACKR3 57007 broad.mit.edu 37 2 237489786 237489786 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:237489786C>T ENST00000272928.3 + 2 988 c.678C>T c.(676-678)tcC>tcT p.S226S NM_020311.2 NP_064707.1 atypical chemokine receptor 3 TTCCCTTCTCCATTATCGCTG 0.577000 29 85 0 0 0.00127121 0 0 CD209 30835 broad.mit.edu 37 19 7809832 7809832 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:7809832C>T ENST00000315599.7 - 5 917 c.895G>A c.(895-897)Gag>Aag p.E299K CD209_ENST00000601951.1_Missense_Mutation_p.E275K|CD209_ENST00000593660.1_Missense_Mutation_p.E229K|CD209_ENST00000602261.1_Missense_Mutation_p.E207K|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.E138K|CD209_ENST00000354397.6_Missense_Mutation_p.E299K|CD209_ENST00000301357.8_Missense_Mutation_p.E163K|CD209_ENST00000601256.1_Missense_Mutation_p.E275K|CD209_ENST00000204801.8_Missense_Mutation_p.E255K|CD209_ENST00000315591.8_Missense_Mutation_p.E275K|CD209_ENST00000593821.1_Missense_Mutation_p.E163K NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 299 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGTACCTGCTCCTCAGCACTT 0.572000 19 48 0 0 0.00121646 0 0 ANKK1 255239 broad.mit.edu 37 11 113270750 113270750 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:113270750G>A ENST00000303941.3 + 8 2153 c.2059G>A c.(2059-2061)Gcc>Acc p.A687T NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 687 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) AAATGTCCACGCCCGCAACAA 0.632000 17 14 0 0 0.000958276 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152246 72152246 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:72152246C>T ENST00000555818.1 + 10 3620 c.3272C>T c.(3271-3273)tCg>tTg p.S1091L SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S566L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1091L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1091L NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1091 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCCATGACCTCGCGGCTGAAT 0.562000 10 35 0 0 0.000442599 0 0 FOXN2 3344 broad.mit.edu 37 2 48573792 48573792 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:48573792C>T ENST00000340553.3 + 3 700 c.439C>T c.(439-441)Cca>Tca p.P147S NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 147 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GGACCATTTTCCATATTTTGC 0.393000 68 93 0 0 0.000781405 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698566 96698566 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96698566C>T ENST00000260682.6 + 1 139 c.127C>T c.(127-129)Cta>Tta p.L43L CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 43 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGGAAATATCCTACAGATAGG 0.433000 18 30 0 0 0.00152264 0 0 RAB35 11021 broad.mit.edu 37 12 120536902 120536902 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:120536902G>A ENST00000229340.5 - 4 472 c.284C>T c.(283-285)tCc>tTc p.S95F RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Missense_Mutation_p.S95F NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 95 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) GTTGACAAAGGACTCGGCACT 0.577000 15 48 0 0 0.000308642 0 0 SYT17 51760 broad.mit.edu 37 16 19236082 19236082 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:19236082A>G ENST00000562034.1 + 5 4765 c.967A>G c.(967-969)Att>Gtt p.I323V SYT17_ENST00000568115.1_Missense_Mutation_p.I323V|SYT17_ENST00000568433.1_Missense_Mutation_p.I78V|SYT17_ENST00000562711.2_Missense_Mutation_p.I380V|SYT17_ENST00000355377.2_Missense_Mutation_p.I384V Q9BSW7 SYT17_HUMAN synaptotagmin XVII 384 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 AAGGGGCACAATTGATCCTTT 0.433000 28 60 0 0 0.00127121 0 0 SORCS1 114815 broad.mit.edu 37 10 108357117 108357117 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:108357117A>G ENST00000263054.6 - 24 3264 c.3257T>C c.(3256-3258)tTa>tCa p.L1086S SORCS1_ENST00000369698.1_Missense_Mutation_p.L621S|SORCS1_ENST00000344440.6_Missense_Mutation_p.L1086S NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1086 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACCCGCTGTTAAGTGAGCAGC 0.502000 14 14 0 0 0.00074312 0 0 PIAS3 10401 broad.mit.edu 37 1 145581490 145581490 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145581490G>A ENST00000393045.2 + 9 1161 c.1071G>A c.(1069-1071)atG>atA p.M357I PIAS3_ENST00000369298.1_Missense_Mutation_p.M322I NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 357 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATCTACAGATGAATGAGAAGA 0.512000 108 81 0 0 0.000781405 0 0 SMC2 10592 broad.mit.edu 37 9 106876340 106876340 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:106876340C>T ENST00000286398.7 + 12 1798 c.1510C>T c.(1510-1512)Ccc>Tcc p.P504S SMC2_ENST00000374787.3_Missense_Mutation_p.P504S|SMC2_ENST00000303219.8_Missense_Mutation_p.P504S|SMC2_ENST00000374793.3_Missense_Mutation_p.P504S NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 504 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AGCCAGATTTCCCAATCTTCG 0.343000 58 131 0 0 0.000781405 0 0 CGNL1 84952 broad.mit.edu 37 15 57731589 57731589 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:57731589G>A ENST00000281282.5 + 2 1470 c.1392G>A c.(1390-1392)ccG>ccA p.P464P NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 464 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CTCCCCAGCCGAACATAGATG 0.592000 9 30 0 0 0.000442599 0 0 DENND2C 163259 broad.mit.edu 37 1 115147646 115147646 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:115147646G>A ENST00000393274.1 - 11 2189 c.1564C>T c.(1564-1566)Cat>Tat p.H522Y DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.H465Y|DENND2C_ENST00000393277.1_Missense_Mutation_p.H522Y NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 522 UDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATAGCCATGATCATCCTGA 0.363000 7 72 0 0 0.00198382 0 0 KPRP 448834 broad.mit.edu 37 1 152732820 152732820 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152732820C>T ENST00000368773.1 + 2 814 c.756C>T c.(754-756)acC>acT p.T252T KPRP_ENST00000606109.1_Silent_p.T252T NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 252 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCGGAGCACCAGCAGATGCC 0.607000 23 61 0 0 0.00047179 0 0 SYNE2 23224 broad.mit.edu 37 14 64461881 64461881 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:64461881C>T ENST00000358025.3 + 23 3131 c.2901C>T c.(2899-2901)atC>atT p.I967I SYNE2_ENST00000554584.1_Silent_p.I967I|SYNE2_ENST00000344113.4_Silent_p.I967I|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 967 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGAAACTTATCCGTAGAGGAA 0.294000 9 48 0 0 0.000442599 0 0 LIM2 3982 broad.mit.edu 37 19 51885677 51885677 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51885677G>A ENST00000221973.3 - 3 488 c.446C>T c.(445-447)tCc>tTc p.S149F LIM2_ENST00000596399.1_Missense_Mutation_p.S107F NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 107 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) CTCACTTGAGGAAAAAAACAT 0.567000 44 46 0 0 0.000781405 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039597 36039597 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:36039597G>A ENST00000282507.3 - 5 1158 c.1057C>T c.(1057-1059)Cct>Tct p.P353S UGT3A2_ENST00000545528.1_Missense_Mutation_p.P51S|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P319S NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 353 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCACTCTGAGGAAGCCAGTCC 0.537000 18 56 0 0 0.00152264 0 0 LRP2 4036 broad.mit.edu 37 2 170072834 170072834 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170072834C>T ENST00000263816.3 - 35 6040 c.5755G>A c.(5755-5757)Gaa>Aaa p.E1919K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1919 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCCAGGTGTTCGAGGTTCCCA 0.502000 8 38 0 0 0.000442599 0 0 KCNA1 3736 broad.mit.edu 37 12 5020775 5020775 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5020775G>A ENST00000382545.3 + 2 1338 c.231G>A c.(229-231)agG>agA p.R77R KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 77 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACCCCCTGAGGAACGAGTACT 0.652000 21 40 0 0 0.00229938 0 0 SPAG8 26206 broad.mit.edu 37 9 35811392 35811392 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35811392G>A ENST00000340291.2 - 2 775 c.651C>T c.(649-651)ttC>ttT p.F217F SPAG8_ENST00000484764.1_Silent_p.F215F|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Silent_p.F217F NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 217 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) CCAGGTTTCTGAACCCTGGAG 0.582000 40 126 0 0 0.000680045 0 0 MIR520G 574484 broad.mit.edu 37 19 54225474 54225474 + RNA SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54225474A>C ENST00000385064.1 + 0 55 NR_030206.1 CTGAGAAAAAACAAAGTGCTT 0.408000 18 51 0 0 0.000958276 0 0 TRANK1 9881 broad.mit.edu 37 3 36897504 36897504 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:36897504C>T ENST00000429976.2 - 12 3824 c.3577G>A c.(3577-3579)Gac>Aac p.D1193N TRANK1_ENST00000428977.2_Missense_Mutation_p.D643N|TRANK1_ENST00000301807.6_Missense_Mutation_p.D643N O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1193 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAGTTCTCGTCCCTCAGGTCC 0.463000 109 134 0 0 0.000781405 0 0 COL5A1 1289 broad.mit.edu 37 9 137623417 137623417 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:137623417G>A ENST00000371817.3 + 8 1654 c.1240G>A c.(1240-1242)Gag>Aag p.E414K NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 414 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAACCTTGACGAGAActacta 0.622000 36 88 0 0 0.00111076 0 0 ATP5F1 515 broad.mit.edu 37 1 111998710 111998710 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:111998710C>T ENST00000369722.3 + 4 832 c.226C>T c.(226-228)Ccc>Tcc p.P76S ATP5F1_ENST00000483994.1_Missense_Mutation_p.P15S|ATP5F1_ENST00000369721.4_3'UTR NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 76 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TCTTTTAGGACCCTATGTACT 0.378000 26 232 0 0 0.001512 0 0 ZBTB40 9923 broad.mit.edu 37 1 22835087 22835087 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:22835087T>C ENST00000404138.1 + 9 2073 c.1562T>C c.(1561-1563)gTt>gCt p.V521A ZBTB40_ENST00000375647.4_Missense_Mutation_p.V521A|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V409A NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 521 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ATATCAGCAGTTCTAGAAAAG 0.463000 43 81 0 0 0.000781405 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682655 140682655 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140682655C>T ENST00000239451.4 - 1 957 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 260 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) ACTATTCCTTCATTTCTCACA 0.423000 10 31 0 0 0.000442599 0 0 SLIT3 6586 broad.mit.edu 37 5 168093514 168093514 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:168093514G>A ENST00000519560.1 - 36 4936 c.4517C>T c.(4516-4518)tCg>tTg p.S1506L SLIT3_ENST00000332966.8_Missense_Mutation_p.S1513L|CTC-558O2.2_ENST00000520041.1_RNA NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1506 CTCK. 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 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) TTCTACAAACGAGGAGCCGTC 0.637000 11 11 0 0 0.000978159 0 0 CSMD3 114788 broad.mit.edu 37 8 114327001 114327001 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:114327001C>T ENST00000297405.5 - 2 444 c.200G>A c.(199-201)gGa>gAa p.G67E CSMD3_ENST00000352409.3_Missense_Mutation_p.G67E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G27E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G67E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 67 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTTAAAGTTCCACCACATGT 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 122 45 0 0 0.000781405 0 0 DMXL2 23312 broad.mit.edu 37 15 51839457 51839457 + Missense_Mutation SNP G G A rs143486672 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:51839457G>A ENST00000251076.5 - 7 1003 c.716C>T c.(715-717)tCg>tTg p.S239L DMXL2_ENST00000543779.2_Missense_Mutation_p.S239L|DMXL2_ENST00000449909.3_Missense_Mutation_p.S239L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 239 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTTGCGCCACGAAAAACCTGT 0.358000 16 9 0 0 0.000308642 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814897 54814897 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:54814897G>A ENST00000585477.1 + 1 605 c.354G>A c.(352-354)agG>agA p.R118R NM_001257964.1 NP_001244893.1 biorientation of chromosomes in cell division 1-like 2 GAGTGGACAGGATTAGTTCTC 0.483000 11 47 0 0 0.00185496 0 0 OBSCN 84033 broad.mit.edu 37 1 228548203 228548203 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228548203C>T ENST00000284548.11 + 81 19684 c.19610C>T c.(19609-19611)gCg>gTg p.A6537V OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.A3656V|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7558 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCCCGTGGGGCGTCACCACCG 0.711000 9 8 0 0 0.000274275 0 0 PIGR 5284 broad.mit.edu 37 1 207105058 207105058 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207105058C>T ENST00000356495.4 - 9 2281 c.2098G>A c.(2098-2100)Gcc>Acc p.A700T PIGR_ENST00000487208.1_5'UTR NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 700 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATCGAAGAGGCTCCCATGTTG 0.512000 28 98 0 0 0.000878237 0 0 EVI5L 115704 broad.mit.edu 37 19 7912715 7912715 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:7912715C>T ENST00000270530.4 + 3 431 c.235C>T c.(235-237)Ctg>Ttg p.L79L EVI5L_ENST00000538904.2_Silent_p.L79L NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 79 intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 CTCCTCCAACCTGAGCCACCT 0.662000 9 21 0 0 0.000274275 0 0 OR6C75 390323 broad.mit.edu 37 12 55759806 55759806 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55759806G>A ENST00000343399.3 + 1 912 c.912G>A c.(910-912)caG>caA p.Q304Q NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GCATGGTCCAGAAGATGATTT 0.388000 8 36 0 0 0.000442599 0 0 FLG2 388698 broad.mit.edu 37 1 152329818 152329818 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152329818C>T ENST00000388718.5 - 3 516 c.444G>A c.(442-444)agG>agA p.R148R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 148 Ser-rich. calcium ion binding|structural molecule activity 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) TCACAGTTCCCCTTGAGTGCC 0.468000 41 224 0 0 0.0025221 0 0 ZNF598 90850 broad.mit.edu 37 16 2049661 2049661 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2049661G>A ENST00000563630.1 - 9 1966 c.1724C>T c.(1723-1725)gCc>gTc p.A575V ZNF598_ENST00000431526.1_Missense_Mutation_p.A630V|ZNF598_ENST00000562103.1_Missense_Mutation_p.A575V Q86UK7 ZN598_HUMAN zinc finger protein 598 630 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 AACGACGACGGCAACTGGCCC 0.706000 13 25 0 0 0.00185496 0 0 MUC16 94025 broad.mit.edu 37 19 9077737 9077737 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9077737G>A ENST00000397910.4 - 3 9912 c.9709C>T c.(9709-9711)Ccc>Tcc p.P3237S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3238 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCTCCATGGGAACAGTTGTT 0.527000 38 115 0 0 0.00170553 0 0 C1orf168 199920 broad.mit.edu 37 1 57206409 57206409 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57206409C>T ENST00000343433.6 - 13 1744 c.1664G>A c.(1663-1665)aGa>aAa p.R555K C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 555 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TATTTTAAATCTATCCTTTTC 0.348000 5 12 0 0 0.000157383 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319587 43319587 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:43319587G>A ENST00000589700.1 + 5 758 c.758G>A c.(757-759)tGg>tAg p.W253* SLC14A1_ENST00000321925.4_Missense_Mutation_p.M302I|SLC14A1_ENST00000535474.1_Missense_Mutation_p.M170I|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000586142.1_Missense_Mutation_p.M302I|SLC14A1_ENST00000436407.3_Missense_Mutation_p.M358I|SLC14A1_ENST00000415427.3_Missense_Mutation_p.M358I|SLC14A1_ENST00000502059.2_Missense_Mutation_p.M194I|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.M197I|SLC14A1_ENST00000591541.1_Missense_Mutation_p.M6I Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 0 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GAATGTTCATGGCGCTCACCT 0.547000 19 95 0 0 0.00121646 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820177 50820177 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:50820177C>T ENST00000374115.3 + 1 1831 c.1391C>T c.(1390-1392)cCc>cTc p.P464L CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 464 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CTCTATGCTCCCGTCTTGCTG 0.642000 10 39 0 0 0.000442599 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638435 234638435 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:234638435C>T ENST00000482026.1 + 1 682 c.663C>T c.(661-663)tcC>tcT p.S221S UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGGCCCTGTCCTACATTTGCC 0.453000 108 140 0 0 0.000781405 0 0 MUC17 140453 broad.mit.edu 37 7 100678869 100678869 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:100678869C>A ENST00000306151.4 + 3 4236 c.4172C>A c.(4171-4173)cCt>cAt p.P1391H NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1391 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCAAATCCTAGTGAAGGA 0.493000 163 99 6.97922e-69 2.5945e-68 0.000781405 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156916804 156916804 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156916804G>A ENST00000368194.3 - 27 3531 c.2492C>T c.(2491-2493)tCc>tTc p.S831F ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S207F|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S791F NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 791 DH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.S831F(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTCACACCAGGAATCTGGGGC 0.522000 30 140 0 0 0.0024448 0 0 FRAS1 80144 broad.mit.edu 37 4 79308840 79308840 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:79308840G>A ENST00000264895.6 + 29 4400 c.3960G>A c.(3958-3960)gtG>gtA p.V1320V FRAS1_ENST00000325942.6_Silent_p.V1320V NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1319 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGTTCCAAGTGAAGACCGTGC 0.433000 12 12 0 0 0.00244969 0 0 SIX2 10736 broad.mit.edu 37 2 45235880 45235880 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:45235880C>T ENST00000303077.6 - 1 689 c.370G>A c.(370-372)Ggc>Agc p.G124S NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 124 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTCTCCTCGCCGTCCCAGATG 0.657000 14 48 0 0 0.00244969 0 0 C17orf53 78995 broad.mit.edu 37 17 42226383 42226383 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:42226383C>T ENST00000319977.4 + 3 1449 c.1212C>T c.(1210-1212)atC>atT p.I404I C17orf53_ENST00000245382.6_Silent_p.I404I|C17orf53_ENST00000585683.1_Silent_p.I404I NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 404 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CAGCTGGGATCCTGCCTCACC 0.612000 11 21 0 0 0.000978159 0 0 RGS6 9628 broad.mit.edu 37 14 73029132 73029132 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:73029132C>T ENST00000553530.1 + 17 1583 c.1376C>T c.(1375-1377)tCg>tTg p.S459L RGS6_ENST00000553525.1_Missense_Mutation_p.S477L|RGS6_ENST00000402788.2_Missense_Mutation_p.S459L|RGS6_ENST00000343854.6_Missense_Mutation_p.S440L|RGS6_ENST00000554782.1_Intron|RP3-514A23.2_ENST00000555303.1_lincRNA|RGS6_ENST00000555571.1_Missense_Mutation_p.S459L|RGS6_ENST00000556437.1_Missense_Mutation_p.S477L NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 459 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGGGAAAGTCGCTGGCGGGC 0.647000 9 44 0 0 0.000673444 0 0 DNAH5 1767 broad.mit.edu 37 5 13727654 13727654 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13727654G>A ENST00000265104.4 - 70 12099 c.11995C>T c.(11995-11997)Ctt>Ttt p.L3999F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3999 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATCTAATAAGGAGAAGACGT 0.363000 Kartagener syndrome 23 19 0 0 0.00127121 0 0 TMEM206 55248 broad.mit.edu 37 1 212558705 212558705 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:212558705G>A ENST00000261455.4 - 4 543 c.406C>T c.(406-408)Cct>Tct p.P136S TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.P197S NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 136 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) GTCAGAGGAGGAATGACCTCG 0.532000 12 68 0 0 0.00244969 0 0 TRAJ23 28732 broad.mit.edu 37 14 22989412 22989412 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22989412G>A ENST00000390514.1 + 0 19 AACCAGGGAGGAAAGCTTATC 0.423000 41 36 0 0 0.000781405 0 0 PCK1 5105 broad.mit.edu 37 20 56137137 56137137 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:56137137C>G ENST00000319441.4 + 3 399 c.235C>G c.(235-237)Ctc>Gtc p.L79V PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 79 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGGTTGGCTCTCACTGACCC 0.557000 33 16 0 0 0.00283554 0 0 POGK 57645 broad.mit.edu 37 1 166818322 166818322 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:166818322C>T ENST00000367875.1 + 5 866 c.506C>T c.(505-507)cCc>cTc p.P169L POGK_ENST00000537173.1_Missense_Mutation_p.P51L|POGK_ENST00000536514.1_Missense_Mutation_p.P84L|POGK_ENST00000367876.4_Missense_Mutation_p.P169L Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 169 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 GAGGGGTACCCCTTCTACATG 0.582000 33 29 0 0 0.00209593 0 0 DNAH10 196385 broad.mit.edu 37 12 124399401 124399401 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124399401G>A ENST00000409039.3 + 61 10248 c.10223G>A c.(10222-10224)tGg>tAg p.W3408* NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3408 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TCTTCCAGATGGGGATCCCAG 0.562000 7 21 0 0 0.000157383 0 0 GLRB 2743 broad.mit.edu 37 4 158060009 158060009 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:158060009C>T ENST00000264428.4 + 7 929 c.659C>T c.(658-660)cCt>cTt p.P220L GLRB_ENST00000509282.1_Missense_Mutation_p.P220L|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.P220L NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 220 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TCAGGAGATCCTGTGCAATTA 0.289000 35 21 0 0 0.00285205 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431494 140431494 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140431494C>T ENST00000306549.3 + 1 516 c.439C>T c.(439-441)Cct>Tct p.P147S NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 147 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAGCACCCCTTTGGGTTC 0.532000 23 13 0 0 0.00047179 0 0 ACER1 125981 broad.mit.edu 37 19 6312178 6312178 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:6312178G>A ENST00000301452.4 - 3 409 c.332C>T c.(331-333)tCc>tTc p.S111F NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 111 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 CCCAAGGAAGGAGGGGAAATA 0.607000 24 26 0 0 0.000586117 0 0 PROM1 8842 broad.mit.edu 37 4 16034954 16034954 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:16034954G>A ENST00000505450.1 - 4 1067 c.455C>T c.(454-456)tCc>tTc p.S152F PROM1_ENST00000508167.1_Missense_Mutation_p.S152F|PROM1_ENST00000539194.1_Missense_Mutation_p.S161F|PROM1_ENST00000540805.1_Missense_Mutation_p.S161F|PROM1_ENST00000447510.2_Missense_Mutation_p.S161F|PROM1_ENST00000510224.1_Missense_Mutation_p.S161F|PROM1_ENST00000543373.1_Missense_Mutation_p.S152F|PROM1_ENST00000502943.1_5'UTR NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 161 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 CACCAACAGGGAGATTGCAAA 0.383000 34 24 0 0 0.000692331 0 0 PRRC2C 23215 broad.mit.edu 37 1 171535487 171535487 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171535487C>T ENST00000367742.3 + 21 6475 c.6233C>T c.(6232-6234)tCt>tTt p.S2078F PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2076F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2078F|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S2076F Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2076 protein C-terminus binding TCGGAAAAATCTGCTGACAAA 0.413000 16 7 0 0 0.000308642 0 0 PKD2L1 9033 broad.mit.edu 37 10 102089628 102089628 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:102089628C>T ENST00000318222.3 - 1 615 c.233G>A c.(232-234)aGa>aAa p.R78K PKD2L1_ENST00000353274.3_Missense_Mutation_p.R78K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R78K NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 78 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCTGGTACCTCTGATGCCTTG 0.547000 19 29 0 0 0.00152264 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768792 31768792 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31768792G>A ENST00000240587.4 - 2 2234 c.1907C>T c.(1906-1908)tCc>tTc p.S636F NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 636 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CTTGGGCGGGGAAAGCTTCCC 0.577000 22 35 0 0 0.00188189 0 0 GGA3 23163 broad.mit.edu 37 17 73257652 73257652 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:73257652C>T ENST00000245541.6 - 1 233 c.17G>A c.(16-18)gGg>gAg p.G6E GGA3_ENST00000578348.1_Intron|GGA3_ENST00000538886.1_5'UTR|GGA3_ENST00000537686.1_Missense_Mutation_p.G6E|GGA3_ENST00000351904.7_Missense_Mutation_p.G6E|GGA3_ENST00000579743.1_Intron|GGA3_ENST00000582717.1_Intron|GGA3_ENST00000582486.1_Intron NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 6 Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) CAGGCTTTCCCCTTCCGCCTC 0.697000 7 27 0 0 0.000157383 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149008485 149008485 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:149008485G>A ENST00000333677.6 + 12 1937 c.1774G>A c.(1774-1776)Gag>Aag p.E592K NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 592 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TCTAACACCGGAGCCCAGCCC 0.612000 9 17 0 0 0.000442599 0 0 ELP3 55140 broad.mit.edu 37 8 28017872 28017872 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:28017872C>T ENST00000256398.8 + 13 1761 c.1384C>T c.(1384-1386)Cgt>Tgt p.R462C ELP3_ENST00000542181.1_Missense_Mutation_p.R333C|ELP3_ENST00000521015.1_Missense_Mutation_p.R448C|ELP3_ENST00000380353.4_Missense_Mutation_p.R370C|ELP3_ENST00000537665.1_Missense_Mutation_p.R343C|ELP3_ENST00000524103.1_Missense_Mutation_p.R390C NM_018091.5 NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 462 N-acetyltransferase. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) AGAAACTTTCCGTTTCGAATT 0.473000 13 18 0 0 0.00185496 0 0 YIPF7 285525 broad.mit.edu 37 4 44652082 44652082 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:44652082G>A ENST00000332990.5 - 2 124 c.108C>T c.(106-108)taC>taT p.Y36Y YIPF7_ENST00000508947.1_5'UTR NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 36 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 AATTAGATTGGTAAAAATCAG 0.289000 8 4 0 0 0.000978159 0 0 TMEM156 80008 broad.mit.edu 37 4 39000348 39000348 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:39000348G>A ENST00000381938.3 - 2 377 c.270C>T c.(268-270)atC>atT p.I90I TMEM156_ENST00000372489.2_5'UTR NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 90 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATTCACCTGTGATGTCTTGGC 0.373000 6 12 0 0 0.00198382 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45899467 45899467 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:45899467A>T ENST00000418234.2 - 6 940 c.862T>A c.(862-864)Tgg>Agg p.W288R PPP1R13L_ENST00000360957.5_Missense_Mutation_p.W288R NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 288 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CTCTCCCTCCAAGGCAACAGC 0.692000 11 18 0 0 0.000566183 0 0 MYH9 4627 broad.mit.edu 37 22 36714331 36714331 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36714331G>A ENST00000216181.5 - 11 1378 c.1148C>T c.(1147-1149)aCc>aTc p.T383I NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 383 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GGTGAAATCGGTCACATTGAT 0.502000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 270 171 0 0 0.000781405 0 0 HELQ 113510 broad.mit.edu 37 4 84352866 84352866 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:84352866T>G ENST00000295488.3 - 11 2408 c.2246A>C c.(2245-2247)gAa>gCa p.E749A HELQ_ENST00000510985.1_Missense_Mutation_p.E682A NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 749 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTTGGTGAATTCCTGAACAAG 0.303000 Other identified genes with known or suspected DNA repair function 13 42 0 0 0.00074312 0 0 AMZ1 155185 broad.mit.edu 37 7 2740289 2740289 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:2740289G>A ENST00000312371.4 + 2 572 c.204G>A c.(202-204)ctG>ctA p.L68L AMZ1_ENST00000407112.1_Silent_p.L68L NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 68 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) ACTGGCTCCTGAGCCGACCCG 0.667000 45 95 0 0 0.00285205 0 0 BRINP3 339479 broad.mit.edu 37 1 190067725 190067725 + Missense_Mutation SNP G G A rs146145589 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:190067725G>A ENST00000367462.3 - 8 1955 c.1724C>T c.(1723-1725)cCc>cTc p.P575L FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.P473L NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 575 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCCTCCGAAGGGATTGACATA 0.463000 54 107 0 0 0.000781405 0 0 SNX11 29916 broad.mit.edu 37 17 46198718 46198718 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:46198718C>T ENST00000393405.2 + 8 1015 c.661C>T c.(661-663)Ccc>Tcc p.P221S SNX11_ENST00000359238.2_Missense_Mutation_p.P221S|SNX11_ENST00000439357.2_Missense_Mutation_p.P160S|SNX11_ENST00000580219.1_Missense_Mutation_p.P213S|SNX11_ENST00000452859.2_Missense_Mutation_p.P77S|SNX11_ENST00000582104.1_Missense_Mutation_p.P213S NM_152244.1 NP_689450.1 Q9Y5W9 SNX11_HUMAN sorting nexin 11 221 cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 CTTGGAAAGTCCCACTCTCCC 0.542000 40 103 0 0 0.00148497 0 0 DSG3 1830 broad.mit.edu 37 18 29052688 29052688 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:29052688G>A ENST00000257189.4 + 14 2121 c.2037_splice c.e14-1 p.E680_splice NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 680 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.E680K(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGGTTTGCAGGAAATCACAAA 0.353000 11 52 0 0 0.000673444 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889834 23889834 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:23889834G>A ENST00000532292.1 - 1 1341 c.1247C>T c.(1246-1248)cCc>cTc p.P416L NM_019066.4 NP_061939.3 MAGE-like 2 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) CTCATCCAAGGGAGACAAGGG 0.572000 15 17 0 0 0.000308642 0 0 NOD2 64127 broad.mit.edu 37 16 50756591 50756591 + Missense_Mutation SNP G G A rs75934273 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:50756591G>A ENST00000300589.2 + 8 2878 c.2773G>A c.(2773-2775)Gat>Aat p.D925N NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 925 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) AGCCTTGGGTGATCACCAGAG 0.552000 81 192 0 0 0.000781405 0 0 CABP2 51475 broad.mit.edu 37 11 67287409 67287409 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:67287409G>A ENST00000294288.4 - 6 561 c.492C>T c.(490-492)ttC>ttT p.F164F CABP2_ENST00000353903.5_Silent_p.F107F NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 164 EF-hand 3. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 CATTGGTGTCGAACTGTGGCG 0.697000 7 12 0 0 0.000157383 0 0 NFRKB 4798 broad.mit.edu 37 11 129756218 129756218 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129756218G>A ENST00000446488.3 - 4 562 c.459C>T c.(457-459)tcC>tcT p.S153S NFRKB_ENST00000524746.1_Silent_p.S153S|NFRKB_ENST00000304521.5_Silent_p.S153S|NFRKB_ENST00000524794.1_Silent_p.S166S NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 153 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTACACTCCGGGAAGCAAGAA 0.463000 78 88 0 0 0.000781405 0 0 BTBD11 121551 broad.mit.edu 37 12 108008863 108008863 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:108008863C>T ENST00000280758.5 + 7 2453 c.1925C>T c.(1924-1926)cCa>cTa p.P642L BTBD11_ENST00000420571.2_Missense_Mutation_p.P642L|BTBD11_ENST00000357167.4_Missense_Mutation_p.P179L|BTBD11_ENST00000490090.2_Missense_Mutation_p.P642L|RP11-128P10.1_ENST00000548473.1_RNA NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 642 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CATAAATATCCATCCGTCCAC 0.418000 11 38 0 0 0.000673444 0 0 MUC16 94025 broad.mit.edu 37 19 9085246 9085246 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9085246G>A ENST00000397910.4 - 1 6772 c.6569C>T c.(6568-6570)tCt>tTt p.S2190F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2190 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAACCAAAGACTCTGAAGT 0.463000 10 32 0 0 0.000673444 0 0 FAM179A 165186 broad.mit.edu 37 2 29226426 29226426 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:29226426G>A ENST00000379558.4 + 6 1059 c.708G>A c.(706-708)gtG>gtA p.V236V FAM179A_ENST00000403861.2_Silent_p.V236V NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 236 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCGCCATCGTGATCCCACCCA 0.642000 4 10 0 0 0.000602214 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223173 118223173 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:118223173C>T ENST00000402510.2 - 11 2019 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 674 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GAAAGGCTTTCCACCATCAGT 0.468000 10 16 0 0 0.000442599 0 0 SLC17A2 10246 broad.mit.edu 37 6 25915870 25915870 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25915870G>A ENST00000377850.3 - 10 1592 c.1068C>T c.(1066-1068)ctC>ctT p.L356L SLC17A2_ENST00000360488.3_Intron|SLC17A2_ENST00000265425.3_Silent_p.L356L O00624 NPT3_HUMAN solute carrier family 17, member 2 356 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 ATGGAAGGAGGAGCCCTGGGC 0.493000 11 30 0 0 0.00136819 0 0 NGFR 4804 broad.mit.edu 37 17 47583862 47583862 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:47583862C>T ENST00000172229.3 + 3 535 c.410C>T c.(409-411)tCc>tTc p.S137F RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.S43F NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 137 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CTCGTGTTCTCCTGCCAGGAC 0.692000 13 17 0 0 0.000422831 0 0 CASR 846 broad.mit.edu 37 3 122002548 122002548 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:122002548A>G ENST00000498619.1 + 7 2215 c.1777A>G c.(1777-1779)Aac>Gac p.N593D CASR_ENST00000490131.1_Missense_Mutation_p.N583D|CASR_ENST00000296154.5_Missense_Mutation_p.N583D NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 583 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAGTGCCTGTAACAAGTGCCC 0.488000 27 53 0 0 0.00178596 0 0 LCN15 389812 broad.mit.edu 37 9 139656668 139656668 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:139656668C>T ENST00000316144.5 - 5 516 c.492G>A c.(490-492)aaG>aaA p.K164K LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 164 K -> E (in dbSNP:rs2297722). lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 CCATCATGTCCTTGGGGAGCC 0.647000 5 1 0 0 0.00198382 0 0 MASP2 10747 broad.mit.edu 37 1 11087255 11087255 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11087255C>T ENST00000400897.3 - 11 1763 c.1748G>A c.(1747-1749)aGa>aAa p.R583K NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 583 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CATTAGATTTCTAGCAAGAAA 0.418000 105 79 0 0 0.000781405 0 0 OR2K2 26248 broad.mit.edu 37 9 114090528 114090528 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:114090528G>A ENST00000374428.1 - 1 272 c.273C>T c.(271-273)ttC>ttT p.F91F OR2K2_ENST00000302681.1_Silent_p.F62F Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 GATTTCCAAGGAATAAGTACA 0.408000 12 51 0 0 0.00185496 0 0 WDR96 80217 broad.mit.edu 37 10 105926467 105926467 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105926467C>T ENST00000357060.3 - 23 2933 c.2818G>A c.(2818-2820)Gaa>Aaa p.E940K WDR96_ENST00000428666.1_Missense_Mutation_p.E941K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 940 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCTACAATTTCCTTCCGTAGC 0.348000 46 53 0 0 0.000781405 0 0 ABCC8 6833 broad.mit.edu 37 11 17452451 17452451 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:17452451G>A ENST00000302539.4 - 12 1852 c.1727C>T c.(1726-1728)gCc>gTc p.A576V ABCC8_ENST00000389817.3_Missense_Mutation_p.A576V|ABCC8_ENST00000528202.1_5'UTR NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 576 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGAGGCAAAGGCCACGGAGGG 0.597000 149 187 0 0 0.000781405 0 0 OR5V1 81696 broad.mit.edu 37 6 29323035 29323035 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29323035G>A ENST00000377154.1 - 4 1237 c.938C>T c.(937-939)tCc>tTc p.S313F OR5V1_ENST00000543825.1_Missense_Mutation_p.S313F Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S313F(2) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCCAAAGAGGAAATTGGTGG 0.358000 21 18 0 0 0.00229938 0 0 MTMR1 8776 broad.mit.edu 37 X 149919206 149919206 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:149919206C>T ENST00000445323.2 + 14 1692 c.1571C>T c.(1570-1572)cCt>cTt p.P524L MTMR1_ENST00000544228.1_Missense_Mutation_p.P516L|MTMR1_ENST00000370390.3_Missense_Mutation_p.P516L|MTMR1_ENST00000541925.1_Missense_Mutation_p.P422L|MTMR1_ENST00000538506.1_Missense_Mutation_p.P341L|MTMR1_ENST00000451863.2_Missense_Mutation_p.P516L Q13613 MTMR1_HUMAN myotubularin related protein 1 516 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TTTAAGTTTCCTTCAGCATTC 0.328000 37 23 0 0 0.000814825 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481640 27481640 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:27481640G>A ENST00000233535.4 - 2 610 c.258C>T c.(256-258)ttC>ttT p.F86F SLC30A3_ENST00000447008.2_Silent_p.F81F NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 86 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCAGCCATGAAGACAAAGC 0.602000 14 88 0 0 0.000566183 0 0 CACNG8 59283 broad.mit.edu 37 19 54483246 54483246 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54483246C>T ENST00000270458.2 + 3 596 c.493C>T c.(493-495)Ctg>Ttg p.L165L NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 165 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGCAGGGATCCTGTTCGTGGC 0.672000 9 21 0 0 0.000978159 0 0 WDFY3 23001 broad.mit.edu 37 4 85611810 85611810 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:85611810G>A ENST00000322366.6 - 60 9568 c.9161C>T c.(9160-9162)aCt>aTt p.T3054I WDFY3_ENST00000295888.4_Missense_Mutation_p.T3071I Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3071 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding 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) TTCATAAACAGTCATGGCCTA 0.478000 14 23 0 0 0.000308642 0 0 KLK10 5655 broad.mit.edu 37 19 51518107 51518107 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51518107G>A ENST00000309958.3 - 6 998 c.780C>T c.(778-780)acC>acT p.T260T KLK10_ENST00000358789.3_Silent_p.T260T|KLK10_ENST00000391805.1_Silent_p.T260T NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 260 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) TGCAGATCTGGGTGTAGACAG 0.547000 23 87 0 0 0.00229938 0 0 OR8J1 219477 broad.mit.edu 37 11 56128056 56128056 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56128056G>A ENST00000303039.3 + 1 366 c.334G>A c.(334-336)Gta>Ata p.V112I NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TGTATCGGAGGTAATCATGCT 0.463000 23 23 0 0 0.000878237 0 0 COL3A1 1281 broad.mit.edu 37 2 189860485 189860485 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:189860485G>A ENST00000304636.3 + 22 1747 c.1577G>A c.(1576-1578)aGa>aAa p.R526K COL3A1_ENST00000317840.5_Missense_Mutation_p.R526K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 526 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GAACCTGGCAGAGATGGCGTC 0.468000 4 3 0 0 0.00024832 0 0 C8B 732 broad.mit.edu 37 1 57397489 57397489 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57397489G>A ENST00000543257.1 - 12 2025 c.1459C>T c.(1459-1461)Cgg>Tgg p.R487W C8B_ENST00000535057.1_Missense_Mutation_p.R477W|C8B_ENST00000371237.4_Missense_Mutation_p.R539W NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 539 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TTACTCTTCCGATAGGAGACC 0.502000 19 21 0 0 0.00152264 0 0 COL19A1 1310 broad.mit.edu 37 6 70850851 70850851 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:70850851G>A ENST00000322773.4 + 20 1554 c.1452G>A c.(1450-1452)gaG>gaA p.E484E COL19A1_ENST00000393344.1_Silent_p.E106E NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 484 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging 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 CTTAGGGAGAGCCTTTTACAA 0.373000 24 19 0 0 0.00047179 0 0 SALL3 27164 broad.mit.edu 37 18 76754633 76754633 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:76754633C>T ENST00000536229.3 + 1 2952 c.2243C>T c.(2242-2244)tCg>tTg p.S748L SALL3_ENST00000575389.2_Missense_Mutation_p.S881L|SALL3_ENST00000537592.2_Missense_Mutation_p.S881L Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 881 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GACTCCTCGTCGGCCGTGGGC 0.692000 41 29 0 0 0.0025221 0 0 STXBP6 29091 broad.mit.edu 37 14 25443984 25443984 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:25443984G>A ENST00000323944.5 - 2 492 c.41C>T c.(40-42)cCt>cTt p.P14L STXBP6_ENST00000546511.1_Missense_Mutation_p.P14L|STXBP6_ENST00000419632.2_Missense_Mutation_p.P14L|STXBP6_ENST00000548724.1_Missense_Mutation_p.P14L|STXBP6_ENST00000358326.2_Missense_Mutation_p.P14L|STXBP6_ENST00000550887.1_Missense_Mutation_p.P14L|STXBP6_ENST00000396700.1_Missense_Mutation_p.P14L Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) 14 vesicle-mediated transport cytoplasm|integral to membrane central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) TTCATCAAGAGGTGCAAAAAT 0.408000 5 21 0 0 0.000602214 0 0 DLG5 9231 broad.mit.edu 37 10 79603326 79603326 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:79603326G>A ENST00000372391.2 - 6 1008 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L DLG5_ENST00000372388.2_Silent_p.L335L NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 335 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AGGCGGCTCAGGTCTGCATTG 0.582000 38 52 0 0 0.00222228 0 0 EFTUD2 9343 broad.mit.edu 37 17 42929143 42929143 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:42929143G>A ENST00000426333.2 - 27 3055 c.2758C>T c.(2758-2760)Ccc>Tcc p.P920S EFTUD2_ENST00000402521.3_Missense_Mutation_p.P885S|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P920S|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P910S NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 920 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) GGCTCCAAGGGGCGGATGACA 0.552000 9 20 0 0 0.000673444 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71478832 71478832 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:71478832G>A ENST00000265382.3 + 5 454 c.149G>A c.(148-150)cGa>cAa p.R50Q PIP5K1B_ENST00000541509.1_Missense_Mutation_p.R50Q NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 50 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AAGCCAGAACGAGATGTTCTT 0.403000 33 82 0 0 0.000692331 0 0 CAMTA1 23261 broad.mit.edu 37 1 7797056 7797056 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:7797056C>T ENST00000303635.7 + 14 3536 c.3329C>T c.(3328-3330)tCc>tTc p.S1110F CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1110F NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1110 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding 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) GACCACTTCTCCTGTACTCCT 0.498000 T WWTR1 epitheliod hemangioendothelioma 5 38 0 0 0.00198382 0 0 C6 729 broad.mit.edu 37 5 41153961 41153961 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41153961C>T ENST00000263413.3 - 15 2505 c.2241G>A c.(2239-2241)caG>caA p.Q747Q C6_ENST00000337836.5_Silent_p.Q747Q NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 747 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGGAATTCCCCTGGCATGTGT 0.473000 4 14 0 0 0.00116845 0 0 IBA57 200205 broad.mit.edu 37 1 228363208 228363208 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228363208C>T ENST00000366711.3 + 3 1067 c.1065C>T c.(1063-1065)tcC>tcT p.S355S IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Silent_p.S162S NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 355 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 CTACAGTCTCCAAGTAGTCCG 0.627000 25 113 0 0 0.000878237 0 0 ZNF415 55786 broad.mit.edu 37 19 53611784 53611784 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53611784A>C ENST00000455735.2 - 7 1978 c.1658T>G c.(1657-1659)tTt>tGt p.F553C ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.F553C|ZNF415_ENST00000601493.1_Missense_Mutation_p.F275C|ZNF415_ENST00000500065.4_Missense_Mutation_p.F505C|ZNF415_ENST00000421033.1_Missense_Mutation_p.F517C|ZNF415_ENST00000243643.4_Missense_Mutation_p.F505C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.F492C Q09FC8 ZN415_HUMAN zinc finger protein 415 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) GCGCACACTAAAGGATTTGCC 0.433000 31 138 0 0 0.00209593 0 0 SLC9A3 6550 broad.mit.edu 37 5 484715 484715 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:484715G>A ENST00000264938.3 - 5 861 c.852C>T c.(850-852)atC>atT p.I284I SLC9A3_ENST00000514375.1_Silent_p.I284I NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 284 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGGGCTCGATGATACGCACAT 0.622000 7 28 0 0 0.000157383 0 0 KIF21B 23046 broad.mit.edu 37 1 200972830 200972830 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200972830G>A ENST00000332129.2 - 8 1412 c.1096C>T c.(1096-1098)Cgg>Tgg p.R366W KIF21B_ENST00000360529.5_Missense_Mutation_p.R366W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R366W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R366W NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 366 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R366W(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TTGCGGGCCCGATTGGCATAT 0.552000 44 68 0 0 0.000680045 0 0 KCNA5 3741 broad.mit.edu 37 12 5155048 5155048 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5155048G>A ENST00000252321.3 + 1 1964 c.1735G>A c.(1735-1737)Ggc>Agc p.G579S NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 579 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TGCCCGAAGGGGCAGCTGCCC 0.632000 13 21 0 0 0.00185496 0 0 LILRB2 10288 broad.mit.edu 37 19 54782143 54782143 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54782143G>A ENST00000391748.1 - 7 1356 c.1229C>T c.(1228-1230)cCc>cTc p.P410L LILRB2_ENST00000391746.1_Missense_Mutation_p.P410L|LILRB2_ENST00000391749.4_Missense_Mutation_p.P410L|LILRB2_ENST00000434421.1_Missense_Mutation_p.P294L|LILRB2_ENST00000314446.5_Missense_Mutation_p.P410L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 410 Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCTCACTGGGGTGAGACAG 0.637000 21 62 0 0 0.00152264 0 0 CD93 22918 broad.mit.edu 37 20 23065861 23065861 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:23065861C>T ENST00000246006.4 - 1 1116 c.969G>A c.(967-969)ggG>ggA p.G323G NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 323 EGF-like 2. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGTAGTTTTTCCCATGGGGTC 0.637000 12 26 0 0 0.00136819 0 0 PMFBP1 83449 broad.mit.edu 37 16 72156856 72156856 + Nonsense_Mutation SNP G G A rs140352254 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:72156856G>A ENST00000537465.1 - 19 2898 c.2740C>T c.(2740-2742)Cga>Tga p.R914* PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.R75*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.R909*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.R764* Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 914 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) ACCTGCTCTCGGAGCTGGTTT 0.532000 25 75 0 0 0.0024448 0 0 ASTN2 23245 broad.mit.edu 37 9 119858380 119858380 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:119858380C>T ENST00000313400.4 - 5 1319 c.1219G>A c.(1219-1221)Gat>Aat p.D407N ASTN2_ENST00000373996.3_Missense_Mutation_p.D407N|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.D356N O75129 ASTN2_HUMAN astrotactin 2 407 integral to membrane 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 TGAGTTTCATCGTCTGCCTCT 0.527000 9 41 0 0 0.000442599 0 0 PKP1 5317 broad.mit.edu 37 1 201294069 201294069 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201294069G>A ENST00000263946.3 + 12 2149 c.1897_splice c.e12-1 p.G633_splice PKP1_ENST00000367324.3_Splice_Site_p.G612_splice|PKP1_ENST00000352845.3_Splice_Site_p.G633_splice NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 633 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CCTCTCCCAGGGAACCAGGTG 0.612000 30 201 0 0 0.000953801 0 0 C17orf74 201243 broad.mit.edu 37 17 7329869 7329869 + Nonsense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:7329869G>T ENST00000333870.3 + 3 633 c.559G>T c.(559-561)Gag>Tag p.E187* C17orf74_ENST00000574034.1_Missense_Mutation_p.G74V|RP11-104H15.7_ENST00000575310.1_RNA NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 187 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CTACCTGGAGGAGGAGGACAA 0.587000 36 52 3.54909e-21 1.31286e-20 0.00285205 1 0 NRROS 375387 broad.mit.edu 37 3 196387578 196387578 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:196387578C>T ENST00000328557.4 + 3 1267 c.1064C>T c.(1063-1065)tCc>tTc p.S355F NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CCTTCCCTCTCCCACCTGAAC 0.602000 16 51 0 0 0.00074312 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125833439 125833439 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:125833439G>T ENST00000393434.2 - 18 2392 c.2043C>A c.(2041-2043)atC>atA p.I681I ALDH1L1_ENST00000273450.3_Silent_p.I691I|ALDH1L1_ENST00000472186.1_Silent_p.I681I|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Silent_p.I580I NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 681 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CAGCAAAGATGATGAGGGGTG 0.617000 36 79 4.14194e-30 1.53649e-29 0.00285205 1 0 ECE1 1889 broad.mit.edu 37 1 21548330 21548330 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21548330G>A ENST00000415912.2 - 18 2123 c.1998C>T c.(1996-1998)taC>taT p.Y666Y ECE1_ENST00000374893.6_Silent_p.Y682Y|ECE1_ENST00000357071.4_Silent_p.Y670Y|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Silent_p.Y679Y NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 682 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CCCAGTTCTGGTAAGCCTGGG 0.592000 46 189 0 0 0.000781405 0 0 UBR1 197131 broad.mit.edu 37 15 43339438 43339438 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:43339438G>A ENST00000290650.4 - 14 1667 c.1589C>T c.(1588-1590)cCt>cTt p.P530L UBR1_ENST00000382177.2_Missense_Mutation_p.P530L NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 530 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CTCCCAATCAGGATCCACTTC 0.418000 118 57 0 0 0.000781405 0 0 DNAJB13 374407 broad.mit.edu 37 11 73676029 73676029 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:73676029C>T ENST00000339764.1 + 4 1192 c.441C>T c.(439-441)tcC>tcT p.S147S DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000540886.1_RNA|RP11-167N4.2_ENST00000537019.1_RNA NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 147 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) TCTACCTGTCCCTGGAGGACT 0.537000 OREG0021218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 20 0 0 0.000978159 0 0 IL5RA 3568 broad.mit.edu 37 3 3134004 3134004 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:3134004C>T ENST00000446632.2 - 9 1472 c.898G>A c.(898-900)Gat>Aat p.D300N IL5RA_ENST00000456302.1_Missense_Mutation_p.D300N|IL5RA_ENST00000438560.1_Missense_Mutation_p.D300N|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.D300N|IL5RA_ENST00000256452.3_Missense_Mutation_p.D300N|IL5RA_ENST00000430514.2_Missense_Mutation_p.D300N|IL5RA_ENST00000311981.8_Missense_Mutation_p.D300N NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 300 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TTAGAAAGATCATCAATTATT 0.418000 22 80 0 0 0.00188189 0 0 OR4M2 390538 broad.mit.edu 37 15 22368900 22368900 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:22368900G>A ENST00000332663.2 + 1 423 c.325G>A c.(325-327)Gct>Act p.A109T RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTTTGCTGGGGCTTCGGAGAT 0.468000 9 58 0 0 0.000442599 0 0 TCF4 6925 broad.mit.edu 37 18 52946885 52946885 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:52946885G>A ENST00000354452.3 - 9 1163 c.552C>T c.(550-552)gtC>gtT p.V184V TCF4_ENST00000570177.2_Silent_p.V54V|TCF4_ENST00000568673.1_Silent_p.V160V|TCF4_ENST00000540999.1_Silent_p.V160V|TCF4_ENST00000537856.3_Silent_p.V54V|TCF4_ENST00000564228.1_Silent_p.V113V|TCF4_ENST00000457482.3_Silent_p.V24V|TCF4_ENST00000398339.1_Silent_p.V286V|TCF4_ENST00000567880.1_Silent_p.V124V|TCF4_ENST00000356073.4_Silent_p.V184V|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Silent_p.V124V|TCF4_ENST00000543082.1_Silent_p.V142V|TCF4_ENST00000561992.1_Silent_p.V54V|TCF4_ENST00000564999.1_Silent_p.V184V|TCF4_ENST00000561831.3_Silent_p.V24V|TCF4_ENST00000565018.2_Silent_p.V184V|TCF4_ENST00000564403.2_Silent_p.V190V|TCF4_ENST00000566286.1_Silent_p.V182V|TCF4_ENST00000544241.2_Silent_p.V113V|TCF4_ENST00000570287.2_Silent_p.V24V|TCF4_ENST00000537578.1_Silent_p.V160V|TCF4_ENST00000568740.1_Silent_p.V159V NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 184 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) ATGGAGCATAGACCTGAGGAG 0.478000 15 79 0 0 0.000422831 0 0 LAX1 54900 broad.mit.edu 37 1 203743613 203743613 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:203743613G>A ENST00000442561.2 + 5 1391 c.1001G>A c.(1000-1002)tGt>tAt p.C334Y LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.C318Y NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 334 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CATGTCCAATGTGTCAAAAGG 0.478000 53 99 0 0 0.000781405 0 0 STXBP4 252983 broad.mit.edu 37 17 53237186 53237186 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:53237186C>T ENST00000376352.2 + 18 1783 c.1576C>T c.(1576-1578)Cat>Tat p.H526Y STXBP4_ENST00000434978.2_Missense_Mutation_p.H504Y NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 526 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 ATCCTGGATCCATCCCGTGAT 0.433000 21 14 0 0 0.00047179 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412520 110412520 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:110412520G>A ENST00000378402.5 + 13 1332 c.1228G>A c.(1228-1230)Ggt>Agt p.G410S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 410 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTACATCAAGGGTGATGACCG 0.383000 HNSCC(38;0.096) 22 86 0 0 0.00278032 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619845 28619845 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:28619845G>A ENST00000395609.1 - 5 986 c.228C>T c.(226-228)ttC>ttT p.F76F SULT1A1_ENST00000395607.1_Silent_p.F76F|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.F76F|SULT1A1_ENST00000314752.7_Silent_p.F76F P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 76 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 GCACCCGCATGAAGATGGGAG 0.592000 31 13 0 0 0.00283554 0 0 ROS1 6098 broad.mit.edu 37 6 117718260 117718260 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:117718260C>T ENST00000368508.3 - 7 795 c.597G>A c.(595-597)ttG>ttA p.L199L GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.L208L NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 199 Fibronectin type-III 2. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TATTCCTAATCAAAGGTGCAG 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 25 0 0 0.000958276 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221068 140221068 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140221068G>A ENST00000531613.1 + 1 162 c.162G>A c.(160-162)ctG>ctA p.L54L PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.L54L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGGGGCTGGAGCTGGCGG 0.637000 42 73 0 0 0.00222228 0 0 CEP290 80184 broad.mit.edu 37 12 88482980 88482980 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:88482980G>A ENST00000552810.1 - 31 4201 c.3858C>T c.(3856-3858)ttC>ttT p.F1286F CEP290_ENST00000547691.2_Silent_p.F346F|CEP290_ENST00000397838.3_Silent_p.F346F|CEP290_ENST00000309041.7_Silent_p.F1288F NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1286 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTGTTTTGGAGAACTTTTCCT 0.368000 9 23 0 0 0.000274275 0 0 GPR133 283383 broad.mit.edu 37 12 131490580 131490580 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:131490580C>T ENST00000261654.5 + 12 1878 c.1319C>T c.(1318-1320)cCc>cTc p.P440L GPR133_ENST00000535015.1_Missense_Mutation_p.P472L|GPR133_ENST00000376682.4_Missense_Mutation_p.P126L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 440 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AACATCTGGCCCGCCCACACC 0.657000 6 27 0 0 0.00116845 0 0 SOGA3 387104 broad.mit.edu 37 6 127796668 127796668 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:127796668C>T ENST00000556132.1 - 6 3367 c.2503G>A c.(2503-2505)Gac>Aac p.D835N SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.D835N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D835N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D835N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D835N NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 835 integral to membrane GTGCTCGTGTCGGCGATGAGC 0.672000 38 52 0 0 0.00222228 0 0 VGLL3 389136 broad.mit.edu 37 3 87018183 87018183 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:87018183C>T ENST00000398399.2 - 3 857 c.494G>A c.(493-495)gGa>gAa p.G165E VGLL3_ENST00000383698.3_Missense_Mutation_p.G165E NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGGATGAACTCCCCCCAAACA 0.577000 27 122 0 0 0.00106085 0 0 NUP210 23225 broad.mit.edu 37 3 13415266 13415266 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:13415266C>T ENST00000254508.5 - 12 1621 c.1539G>A c.(1537-1539)gtG>gtA p.V513V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 513 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GTGCCTGGATCACACTGAACC 0.567000 16 14 0 0 0.00074312 0 0 CNGA1 1259 broad.mit.edu 37 4 47939467 47939467 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:47939467T>A ENST00000402813.3 - 10 1393 c.1251A>T c.(1249-1251)aaA>aaT p.K417N CNGA1_ENST00000420489.2_Missense_Mutation_p.K348N|CNGA1_ENST00000514170.1_Missense_Mutation_p.K348N|CNGA1_ENST00000358519.4_Missense_Mutation_p.K348N|CNGA1_ENST00000544810.1_Missense_Mutation_p.K348N P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 348 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TGTATACGTATTTTCTAGCCA 0.413000 44 76 0 0 0.00285205 0 0 DPRX 503834 broad.mit.edu 37 19 54140070 54140070 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54140070C>T ENST00000376650.1 + 3 455 c.404C>T c.(403-405)cCc>cTc p.P135L NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) ATCCTGTACCCCAACCTCAAG 0.517000 30 101 0 0 0.00209593 0 0 GABBR1 2550 broad.mit.edu 37 6 29572397 29572397 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29572397G>A ENST00000377034.4 - 22 2921 c.2586C>T c.(2584-2586)acC>acT p.T862T GABBR1_ENST00000377016.4_Silent_p.T800T|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Silent_p.T745T|GABBR1_ENST00000355973.3_Silent_p.T745T NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 862 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) ATTCCCCTCGGGTGATCAGCC 0.587000 52 32 0 0 0.000781405 0 0 MGAM 8972 broad.mit.edu 37 7 141759342 141759342 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141759342G>A ENST00000475668.2 + 32 3944 c.3890G>A c.(3889-3891)gGg>gAg p.G1297E MGAM_ENST00000549489.2_Missense_Mutation_p.G1297E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1297 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAGTTTGCTGGGTTTCCAGCT 0.557000 55 33 0 0 0.000781405 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137564 40137564 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:40137564C>T ENST00000278198.2 - 2 2242 c.279G>A c.(277-279)gtG>gtA p.V93V LRRC4C_ENST00000530763.1_Silent_p.V93V|LRRC4C_ENST00000528697.1_Silent_p.V93V|LRRC4C_ENST00000527150.1_Silent_p.V93V Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 93 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGAAGCTGTTCACTTTGATGA 0.468000 30 35 0 0 0.00283554 0 0 LDB3 11155 broad.mit.edu 37 10 88439220 88439220 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:88439220G>A ENST00000429277.2 + 3 335 c.190G>A c.(190-192)Gaa>Aaa p.E64K LDB3_ENST00000372056.4_Missense_Mutation_p.E64K|LDB3_ENST00000542786.1_Missense_Mutation_p.E64K|LDB3_ENST00000458213.2_Missense_Mutation_p.E64K|LDB3_ENST00000310944.6_Missense_Mutation_p.E64K|LDB3_ENST00000361373.4_Missense_Mutation_p.E64K|LDB3_ENST00000263066.6_Missense_Mutation_p.E64K|LDB3_ENST00000372066.3_Missense_Mutation_p.E64K|LDB3_ENST00000352360.5_Missense_Mutation_p.E64K NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 64 PDZ. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GACCCACCTGGAAGCCCAGAA 0.602000 28 22 0 0 0.00106085 0 0 HDC 3067 broad.mit.edu 37 15 50546385 50546385 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:50546385C>T ENST00000267845.3 - 6 1064 c.662G>A c.(661-663)gGg>gAg p.G221E HDC_ENST00000543581.1_Missense_Mutation_p.G221E NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 221 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AAGAGCTTCCCCTCGGAGTGA 0.493000 26 17 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179648929 179648929 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179648929G>A ENST00000589042.1 - 16 2867 c.2643C>T c.(2641-2643)ttC>ttT p.F881F TTN_ENST00000360870.5_Silent_p.F881F|TTN_ENST00000591111.1_Silent_p.F881F|TTN_ENST00000359218.5_Silent_p.F835F|TTN_ENST00000342175.6_Silent_p.F835F|TTN_ENST00000342992.6_Silent_p.F881F|TTN_ENST00000460472.2_Silent_p.F835F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 881 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F835L(3)|p.F881L(3) 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) CAGCGAAGGGGAACTGTGGCA 0.537000 13 52 0 0 0.00185496 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629808 9629808 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:9629808G>A ENST00000382492.2 - 1 655 c.337C>T c.(337-339)Cca>Tca p.P113S CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 113 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 ATGAAGAGTGGGTGACGGACG 0.443000 22 6 0 0 0.00152264 0 0 NKD2 85409 broad.mit.edu 37 5 1038363 1038363 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:1038363G>A ENST00000296849.5 + 10 1460 c.1231G>A c.(1231-1233)Gtg>Atg p.V411M NKD2_ENST00000382730.2_Missense_Mutation_p.G50D|NKD2_ENST00000274150.4_3'UTR NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 411 exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GCACGAGGTGGTGCGGGACCT 0.692000 5 4 0 0 0.00116845 0 0 MYH2 4620 broad.mit.edu 37 17 10432385 10432385 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10432385C>T ENST00000245503.5 - 27 3750 c.3366G>A c.(3364-3366)gaG>gaA p.E1122E CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.E1122E NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1122 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCTCCAGCTCCTCAATGCGGG 0.552000 12 15 0 0 0.00185496 0 0 RYR1 6261 broad.mit.edu 37 19 38959949 38959949 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:38959949C>T ENST00000355481.4 + 27 3692 c.3561C>T c.(3559-3561)ttC>ttT p.F1187F RYR1_ENST00000359596.3_Silent_p.F1187F|RYR1_ENST00000360985.3_Silent_p.F1187F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1187 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) cACCAGGCTTCCTGCCCGTCT 0.647000 40 52 0 0 0.00148497 0 0 TRIM8 81603 broad.mit.edu 37 10 104416920 104416920 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:104416920C>T ENST00000302424.6 + 6 1587 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 489 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCCCTACCCCCGCTCCGGCCA 0.652000 8 14 0 0 0.000157383 0 0 WDR72 256764 broad.mit.edu 37 15 53908078 53908078 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:53908078G>A ENST00000396328.1 - 15 2564 c.2325C>T c.(2323-2325)tcC>tcT p.S775S WDR72_ENST00000557913.1_Silent_p.S772S|WDR72_ENST00000360509.5_Silent_p.S775S|WDR72_ENST00000559418.1_Silent_p.S785S NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 775 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GCATTTTTTTGGAGATCTTCA 0.403000 14 36 0 0 0.000566183 0 0 LAMB3 3914 broad.mit.edu 37 1 209796966 209796966 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:209796966C>T ENST00000391911.1 - 15 2631 c.2242G>A c.(2242-2244)Gag>Aag p.E748K LAMB3_ENST00000367030.3_Missense_Mutation_p.E748K|LAMB3_ENST00000356082.4_Missense_Mutation_p.E748K NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 748 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTCTCTGCCTCTCTCCGGCTG 0.657000 6 47 0 0 0.000566183 0 0 TRIP6 7205 broad.mit.edu 37 7 100468258 100468258 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:100468258C>T ENST00000200457.4 + 6 1252 c.892C>T c.(892-894)Cgc>Tgc p.R298C NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 298 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCCCTTGATCGCGTCTTTCA 0.597000 75 8 0 0 0.000781405 0 0 MAB21L3 126868 broad.mit.edu 37 1 116675916 116675916 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:116675916C>T ENST00000369500.3 + 7 1284 c.1019C>T c.(1018-1020)cCg>cTg p.P340L NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 340 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 TGCACCAACCCGACTGAACTG 0.587000 17 113 0 0 0.00229938 0 0 MYH8 4626 broad.mit.edu 37 17 10312654 10312654 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10312654C>T ENST00000403437.2 - 16 1933 c.1839G>A c.(1837-1839)caG>caA p.Q613Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 613 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTGCAGACTTCTGGTACAGCC 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 43 7 0 0 0.00285205 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10532044 10532044 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:10532044G>A ENST00000396560.2 + 5 1274 c.1047G>A c.(1045-1047)ggG>ggA p.G349G ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.G349G|ATF7IP2_ENST00000324570.5_Silent_p.G349G|ATF7IP2_ENST00000356427.2_Silent_p.G349G NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AACGCATTGGGAAGACAGAGT 0.343000 27 47 0 0 0.00127121 0 0 XIST 7503 broad.mit.edu 37 X 73072305 73072305 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:73072305C>T ENST00000429829.1 - 0 283 NR_001564.2 AGAAAAATTCCTTAAATATTA 0.308000 9 0 0 0 0.000673444 0 0 ACTG1P17 283693 broad.mit.edu 37 15 83395189 83395189 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:83395189G>A ENST00000560958.1 - 0 1097 NR_036446.1 CTTGTGCTCAGAGACAGCCAT 0.547000 3 4 0 0 6.4e-05 0 0 PROM2 150696 broad.mit.edu 37 2 95954681 95954681 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:95954681C>T ENST00000317620.9 + 23 2575 c.2441_splice c.e23-1 p.S814_splice PROM2_ENST00000403131.2_Splice_Site_p.S814_splice|PROM2_ENST00000317668.4_Splice_Site_p.S814_splice|PROM2_ENST00000542147.1_Splice_Site_p.S765_splice NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 814 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GACACTGCAGCTCCACCAGCT 0.577000 24 89 0 0 0.000878237 0 0 ATP8B4 79895 broad.mit.edu 37 15 50226266 50226266 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:50226266G>A ENST00000284509.6 - 15 1542 c.1401C>T c.(1399-1401)ttC>ttT p.F467F ATP8B4_ENST00000559829.1_Silent_p.F467F NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 467 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GTAACCTAAGGAATTCATGAA 0.388000 6 24 0 0 0.000274275 0 0 NOS1 4842 broad.mit.edu 37 12 117657984 117657984 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:117657984C>T ENST00000317775.6 - 27 4751 c.4066G>A c.(4066-4068)Gac>Aac p.D1356N NOS1_ENST00000338101.4_Missense_Mutation_p.D1390N|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1356 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATGGTGACGTCCCCACAGACG 0.602000 46 116 0 0 0.000781405 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223341 140223341 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140223341G>A ENST00000378123.3 + 1 2435 c.2435G>A c.(2434-2436)tGg>tAg p.W812* PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_031856.1 NP_114062.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTATTTGTGGAAATTGTAG 0.279000 13 46 0 0 0.00185496 0 0 SYN3 8224 broad.mit.edu 37 22 33260955 33260955 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:33260955G>A ENST00000358763.2 - 6 900 c.658C>T c.(658-660)Cct>Tct p.P220S SYN3_ENST00000332840.5_Missense_Mutation_p.P220S NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 220 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AACTTCTCAGGACCCAGGGAA 0.433000 45 279 0 0 0.000781405 0 0 KATNBL1 79768 broad.mit.edu 37 15 34445050 34445050 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:34445050C>T ENST00000256544.3 - 4 521 c.379G>A c.(379-381)Gat>Aat p.D127N NM_024713.2 NP_078989.1 katanin p80 subunit B-like 1 GAACCAGAATCACTGGAGTTA 0.388000 27 20 0 0 0.00106085 0 0 LY75 4065 broad.mit.edu 37 2 160664998 160664998 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:160664998G>A ENST00000263636.4 - 33 4811 c.4784C>T c.(4783-4785)aCc>aTc p.T1595I LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T1595I|LY75_ENST00000553424.1_Missense_Mutation_p.T1595I|LY75_ENST00000554112.1_Missense_Mutation_p.T1595I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1595I NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) AACTCTCATGGTAATGTTATT 0.338000 21 76 0 0 0.00152264 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616557 77616557 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:77616557G>A ENST00000521891.2 + 2 682 c.234G>A c.(232-234)aaG>aaA p.K78K ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.K78K|ZFHX4_ENST00000050961.6_Silent_p.K78K|ZFHX4_ENST00000455469.2_Silent_p.K78K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 78 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTCAGCAAAGGAGATACCCT 0.502000 HNSCC(33;0.089) 29 89 0 0 0.001512 0 0 ASB15 142685 broad.mit.edu 37 7 123257713 123257713 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:123257713G>A ENST00000451558.1 + 9 894 c.373G>A c.(373-375)Gaa>Aaa p.E125K RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.E125K|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.E125K|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.E125K|ASB15_ENST00000451215.1_Missense_Mutation_p.E125K Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 125 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TGGTCTGGTGGAAAATGTAAG 0.408000 25 73 0 0 0.000586117 0 0 PDILT 204474 broad.mit.edu 37 16 20373815 20373815 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20373815C>T ENST00000302451.4 - 10 1575 c.1327G>A c.(1327-1329)Gcc>Acc p.A443T NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 443 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TCGATCTTGGCAATGATAATT 0.483000 19 31 0 0 0.00121646 0 0 PDE7B 27115 broad.mit.edu 37 6 136508200 136508200 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:136508200G>A ENST00000308191.6 + 12 1375 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 358 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.E358Q(1) breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) ATTTGAACTGGAAATCAGTCC 0.289000 23 37 0 0 0.000586117 0 0 NTNG1 22854 broad.mit.edu 37 1 107937869 107937869 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:107937869G>A ENST00000370067.1 + 4 1608 c.981G>A c.(979-981)ggG>ggA p.G327G NTNG1_ENST00000370070.2_Silent_p.G327G|NTNG1_ENST00000370074.4_Silent_p.G327G|NTNG1_ENST00000370068.1_Silent_p.G327G|NTNG1_ENST00000370061.3_Silent_p.G327G|NTNG1_ENST00000542803.1_Silent_p.G327G|NTNG1_ENST00000370071.2_Silent_p.G327G|NTNG1_ENST00000370073.2_Silent_p.G327G|NTNG1_ENST00000370072.3_Silent_p.G327G|NTNG1_ENST00000370066.1_Silent_p.G327G|NTNG1_ENST00000370065.1_Silent_p.G327G Q9Y2I2 NTNG1_HUMAN netrin G1 327 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CAGACTGTGGGAAATGCAAGA 0.483000 16 113 0 0 0.000422831 0 0 TICAM1 148022 broad.mit.edu 37 19 4816466 4816466 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:4816466G>A ENST00000248244.5 - 2 2153 c.1924C>T c.(1924-1926)Cca>Tca p.P642S NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 642 Pro-rich.|Sufficient to induce apoptosis. Missing (in Ref. 6; AAO85488). apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GAGGGCGGTGGGGGGGTGCCA 0.731000 5 17 0 0 0.000602214 0 0 DNAH11 8701 broad.mit.edu 37 7 21920455 21920455 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:21920455G>A ENST00000328843.6 + 76 12383 c.12352G>A c.(12352-12354)Gga>Aga p.G4118R DNAH11_ENST00000409508.3_Missense_Mutation_p.G4111R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4118 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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 TTTTAATCCTGGAGACCTCAC 0.468000 Kartagener syndrome 14 59 0 0 0.000308642 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77042686 77042686 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:77042686C>T ENST00000339142.2 + 4 760 c.205C>T c.(205-207)Cct>Tct p.P69S C1QTNF1_ENST00000583904.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.P69S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.P79S|C1QTNF1_ENST00000311661.4_5'UTR NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 69 collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) CCAGGGGCTCCCTGCTTCCCG 0.557000 OREG0024791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 92 0 0 0.00148497 0 0 OR4N5 390437 broad.mit.edu 37 14 20612589 20612589 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20612589G>A ENST00000333629.1 + 1 695 c.695G>A c.(694-696)gGa>gAa p.G232E NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TCCTCTGAAGGAAAGAGCAAG 0.493000 42 21 0 0 0.00148497 0 0 TCTN2 79867 broad.mit.edu 37 12 124163773 124163773 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124163773C>T ENST00000303372.5 + 5 629 c.501C>T c.(499-501)ccC>ccT p.P167P TCTN2_ENST00000426174.2_Silent_p.P166P NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 167 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGTATCAGCCCCTTGGCCCTT 0.438000 58 116 0 0 0.000781405 0 0 FAM83C 128876 broad.mit.edu 37 20 33879595 33879595 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:33879595C>T ENST00000374408.3 - 1 609 c.513_splice c.e1+1 p.T171_splice NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 171 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) aGGCCCTTACCGTGTGGGCCT 0.597000 29 80 0 0 0.0024448 0 0 DSG3 1830 broad.mit.edu 37 18 29039109 29039109 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:29039109C>T ENST00000257189.4 + 5 569 c.486C>T c.(484-486)ttC>ttT p.F162F NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 162 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AACAAATTTTCATGGGTGAAA 0.323000 8 52 0 0 0.000442599 0 0 MAST4 375449 broad.mit.edu 37 5 66124697 66124697 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:66124697G>A ENST00000403666.1 + 1 94 c.26G>A c.(25-27)cGa>cAa p.R9Q MAST4_ENST00000406374.1_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000490016.2_Missense_Mutation_p.R9Q|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000403625.2_Intron NM_015183.2 NP_055998.1 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1266 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ATTCTAAGACGAAGAGGGCTC 0.483000 6 4 0 0 0.000274275 0 0 NYNRIN 57523 broad.mit.edu 37 14 24879333 24879333 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24879333C>T ENST00000382554.3 + 4 2651 c.2333C>T c.(2332-2334)cCc>cTc p.P778L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 778 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTGAATACACCCTTCGAGCTG 0.632000 12 34 0 0 0.00136819 0 0 SYT10 341359 broad.mit.edu 37 12 33535294 33535294 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:33535294C>T ENST00000228567.3 - 5 1656 c.1360G>A c.(1360-1362)Gat>Aat p.D454N SYT10_ENST00000535526.1_Missense_Mutation_p.D273N NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 454 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity 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) CTATCGTAATCCATGACCGCA 0.458000 20 18 0 0 0.00188189 0 0 VPS13B 157680 broad.mit.edu 37 8 100887729 100887729 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:100887729C>A ENST00000358544.2 + 62 12015 c.11904C>A c.(11902-11904)gcC>gcA p.A3968A VPS13B_ENST00000357162.2_Silent_p.A3943A|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3968 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTCACCTGGCCCCCAGCTGTT 0.483000 48 29 2.43468e-25 9.02532e-25 0.000781405 1 0 APOB 338 broad.mit.edu 37 2 21249778 21249778 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21249778C>T ENST00000233242.1 - 15 2253 c.2126G>A c.(2125-2127)gGa>gAa p.G709E APOB_ENST00000399256.4_Missense_Mutation_p.G709E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 709 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 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) TGGGAAAAATCCTTGCTTCCC 0.418000 130 399 0 0 0.000781405 0 0 KRT14 3861 broad.mit.edu 37 17 39743049 39743049 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39743049G>A ENST00000167586.6 - 1 124 c.38C>T c.(37-39)tCc>tTc p.S13F NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 13 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GCCCTTCATGGAGCTGGAGGA 0.682000 3 4 0 0 0.000602214 0 0 PLCH1 23007 broad.mit.edu 37 3 155215207 155215207 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:155215207C>T ENST00000460012.1 - 15 2064 c.e15-1 PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCGACCCAATCTGTGAAGTAC 0.458000 21 42 0 0 0.00152264 0 0 ATG7 10533 broad.mit.edu 37 3 11356878 11356878 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:11356878C>T ENST00000354449.3 + 7 614 c.589C>T c.(589-591)Cct>Tct p.P197S ATG7_ENST00000354956.5_Missense_Mutation_p.P197S|ATG7_ENST00000446450.2_Missense_Mutation_p.P158S NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 197 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CACAGCTCTTCCTTACTTCTT 0.373000 9 33 0 0 0.000442599 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92973279 92973279 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:92973279G>A ENST00000268164.3 + 2 336 c.98_splice c.e2-1 p.G33_splice ST8SIA2_ENST00000539113.1_Intron NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 33 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TGTCTTGCAGGAATTCGGGAG 0.403000 16 27 0 0 0.00074312 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39425373 39425373 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:39425373C>T ENST00000216099.7 + 5 1018 c.611C>T c.(610-612)cCg>cTg p.P204L APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.P204L NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 204 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CTCAGAAACCCGATGGAGGCA 0.522000 79 105 0 0 0.000781405 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948498 119948498 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:119948498C>T ENST00000307142.4 + 3 1170 c.974C>T c.(973-975)tCc>tTc p.S325F SYNPO2_ENST00000429713.2_Missense_Mutation_p.S325F|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S325F|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 325 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCTCTGGTATCCTTTGCCGTC 0.557000 11 29 0 0 0.00136819 0 0 PRX 57716 broad.mit.edu 37 19 40903778 40903778 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:40903778G>A ENST00000324001.7 - 7 751 c.481C>T c.(481-483)Ccc>Tcc p.P161S PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 161 Arg/Lys-rich (basic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGAACTTGGGAAAGGAGAAC 0.667000 12 13 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179614349 179614349 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179614349C>T ENST00000360870.5 - 46 13000 c.12778G>A c.(12778-12780)Gaa>Aaa p.E4260K TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 411 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAATATTTTCGAATTGACTA 0.373000 8 21 0 0 0.000157383 0 0 PKD1L2 114780 broad.mit.edu 37 16 81198262 81198262 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:81198262G>A ENST00000533478.1 - 0 1387 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TATATCCACGGGCTCCTGGCC 0.547000 32 57 0 0 0.000692331 0 0 DNAH7 56171 broad.mit.edu 37 2 196788418 196788418 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196788418C>T ENST00000312428.6 - 23 3826 c.3726G>A c.(3724-3726)ctG>ctA p.L1242L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1242 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATGGACATCCAGTACCACAA 0.408000 11 55 0 0 0.00136819 0 0 ZBED2 79413 broad.mit.edu 37 3 111312580 111312580 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:111312580C>T ENST00000317012.4 - 2 1477 c.469G>A c.(469-471)Gaa>Aaa p.E157K CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 157 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 ACCTCCTTTTCCCTTTGGCTG 0.627000 23 47 0 0 0.00106085 0 0 EPG5 57724 broad.mit.edu 37 18 43524015 43524015 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:43524015G>A ENST00000282041.5 - 8 1782 c.1748C>T c.(1747-1749)cCc>cTc p.P583L NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 583 autophagy 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 TTCATGAAAGGGGAACTGTGC 0.388000 12 87 0 0 0.00185496 0 0 RIMS2 9699 broad.mit.edu 37 8 105260975 105260975 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:105260975G>A ENST00000507740.1 + 19 3201 c.2965G>A c.(2965-2967)Gat>Aat p.D989N RIMS2_ENST00000339750.2_Missense_Mutation_p.D111N|RIMS2_ENST00000436393.2_Missense_Mutation_p.D1193N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1175N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1014N NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1237 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAGTTCAGTGATTTCCTGGA 0.458000 HNSCC(12;0.0054) 17 73 0 0 0.00278032 0 0 PANX1 24145 broad.mit.edu 37 11 93911716 93911716 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:93911716G>A ENST00000227638.3 + 3 888 c.503G>A c.(502-504)gGa>gAa p.G168E PANX1_ENST00000436171.2_Missense_Mutation_p.G168E NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 168 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATGAGAGATGGAGCCTGCTCA 0.473000 12 13 0 0 0.00244969 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260245 90260245 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:90260245C>T ENST00000471857.1 + 0 529 ATTATAGTTTCCCTCCCACAG 0.498000 19 73 0 0 0.00121646 0 0 MUC16 94025 broad.mit.edu 37 19 9074153 9074153 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9074153G>A ENST00000397910.4 - 3 13496 c.13293C>T c.(13291-13293)ctC>ctT p.L4431L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4433 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTTGCTTATGAGAGTGGTCT 0.488000 26 104 0 0 0.000720815 0 0 HEATR2 54919 broad.mit.edu 37 7 825182 825182 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:825182C>T ENST00000297440.6 + 13 2480 c.2460C>T c.(2458-2460)ttC>ttT p.F820F HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Silent_p.F245F NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 820 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GCGGGCTGTTCCCAGATCTCC 0.552000 72 106 0 0 0.000781405 0 0 OR6C76 390326 broad.mit.edu 37 12 55820232 55820232 + Silent SNP C C T rs139871766 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55820232C>T ENST00000328314.3 + 1 195 c.195C>T c.(193-195)tcC>tcT p.S65S NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 GGAATTTCTCCTTGGAAATTT 0.408000 39 19 0 0 0.000953801 0 0 CYP7B1 9420 broad.mit.edu 37 8 65517309 65517309 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:65517309C>T ENST00000310193.3 - 5 1336 c.1163G>A c.(1162-1164)cGa>cAa p.R388Q CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 388 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTCTCCCTTTCGCACACAGTA 0.453000 32 47 0 0 0.0024448 0 0 COL21A1 81578 broad.mit.edu 37 6 55932118 55932118 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:55932118C>T ENST00000244728.5 - 23 2499 c.2102G>A c.(2101-2103)gGa>gAa p.G701E COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 701 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTTGATTTCCTTTGTCCCC 0.299000 7 8 0 0 0.000442599 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688756 81688756 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81688756C>T ENST00000550584.2 - 23 3078 c.2783G>A c.(2782-2784)gGt>gAt p.G928D PPFIA2_ENST00000549396.1_Missense_Mutation_p.G928D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G775D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G495D|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G928D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G913D|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G829D|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G145D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G928D|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G854D|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G913D NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 854 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CATGATGGCACCACTCTTCAC 0.438000 9 9 0 0 0.00136819 0 0 FBLN5 10516 broad.mit.edu 37 14 92344001 92344001 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:92344001G>A ENST00000267620.10 - 11 1307 c.1138C>T c.(1138-1140)Cct>Tct p.P380S FBLN5_ENST00000342058.4_Missense_Mutation_p.P339S|FBLN5_ENST00000556154.1_Missense_Mutation_p.P344S Q9UBX5 FBLN5_HUMAN fibulin 5 339 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CTGCAGCCAGGGTTCTCAGCA 0.537000 39 48 0 0 0.000781405 0 0 WDR96 80217 broad.mit.edu 37 10 105947241 105947241 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105947241G>A ENST00000357060.3 - 14 1812 c.1697C>T c.(1696-1698)aCc>aTc p.T566I WDR96_ENST00000428666.1_Missense_Mutation_p.T567I|WDR96_ENST00000278064.2_Missense_Mutation_p.T497I NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 566 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ATCAGCAAAGGTTGTGGAAAC 0.328000 16 27 0 0 0.00074312 0 0 EXO1 9156 broad.mit.edu 37 1 242042534 242042534 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:242042534C>T ENST00000366548.3 + 13 2591 c.1998C>T c.(1996-1998)ccC>ccT p.P666P EXO1_ENST00000348581.5_Silent_p.P666P|EXO1_ENST00000518483.1_Silent_p.P666P NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 666 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AGTCTCATCCCTTACGAGAAG 0.468000 Editing and processing nucleases 20 63 0 0 0.00152264 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784900 140784900 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140784900C>T ENST00000573521.1 + 1 2381 c.2381C>T c.(2380-2382)tCt>tTt p.S794F PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCGTCTCTGTTGATTCC 0.418000 20 36 0 0 0.00121646 0 0 PKNOX2 63876 broad.mit.edu 37 11 125301156 125301156 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:125301156G>A ENST00000298282.9 + 13 1558 c.1287G>A c.(1285-1287)ttG>ttA p.L429L PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.L365L NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 429 Asp/Glu-rich (acidic). nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) ATGACTCATTGGATGGGACAg 0.562000 9 15 0 0 0.000442599 0 0 LRFN2 57497 broad.mit.edu 37 6 40399472 40399472 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:40399472C>T ENST00000338305.6 - 2 1923 c.1381G>A c.(1381-1383)Gat>Aat p.D461N NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 461 Fibronectin type-III. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGTACCTCATCGTCAGAGCAG 0.592000 17 7 0 0 0.000958276 0 0 GUCA1B 2979 broad.mit.edu 37 6 42156425 42156425 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:42156425G>A ENST00000230361.3 - 2 347 c.252C>T c.(250-252)ctC>ctT p.L84L NM_002098.5 NP_002089.4 Q9UMX6 GUC1B_HUMAN guanylate cyclase activator 1B (retina) 84 EF-hand 2. body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity large_intestine(3)|lung(3)|skin(2) 8 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) CCCTCAGCACGAGATTCAGAG 0.552000 11 15 0 0 0.00136819 0 0 GCG 2641 broad.mit.edu 37 2 163000608 163000608 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163000608C>T ENST00000418842.2 - 5 719 c.465G>A c.(463-465)atG>atA p.M155I GCG_ENST00000375497.3_Missense_Mutation_p.M155I NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 155 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) GAATGGTGTTCATCTCATCAG 0.398000 14 41 0 0 0.000566183 0 0 DNAH10 196385 broad.mit.edu 37 12 124335526 124335526 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124335526C>T ENST00000409039.3 + 34 5865 c.5840C>T c.(5839-5841)tCg>tTg p.S1947L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1947 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity 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) CTGCCCGAGTCGGTGAAGGCG 0.617000 15 37 0 0 0.000308642 0 0 TMC5 79838 broad.mit.edu 37 16 19451968 19451968 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:19451968G>A ENST00000396229.2 + 3 1357 c.608G>A c.(607-609)gGa>gAa p.G203E TMC5_ENST00000541464.1_Missense_Mutation_p.G203E|TMC5_ENST00000381414.4_Missense_Mutation_p.G203E|TMC5_ENST00000542583.2_Missense_Mutation_p.G203E NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 203 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GACTCTCTGGGAAAGCCTGAT 0.473000 32 40 0 0 0.00283554 0 0 MKRN2 23609 broad.mit.edu 37 3 12623672 12623672 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:12623672C>A ENST00000170447.7 + 8 1308 c.1171C>A c.(1171-1173)Ccc>Acc p.P391T MKRN2_ENST00000448482.1_Missense_Mutation_p.P389T|MKRN2_ENST00000411987.1_Missense_Mutation_p.P348T NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 391 intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 CCGGCATGTCCCCAACAATGA 0.502000 8 239 0.000274275 0.00100609 0.000274275 1 0 PTGS1 5742 broad.mit.edu 37 9 125140279 125140279 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125140279C>T ENST00000362012.2 + 3 201 c.196C>T c.(196-198)Ccc>Tcc p.P66S PTGS1_ENST00000540753.1_Missense_Mutation_p.P41S|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.P66S NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 66 EGF-like. cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CTATTCCGGCCCCAACTGCAC 0.607000 14 66 0 0 0.000308642 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15880414 15880414 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15880414C>T ENST00000595525.1 + 0 529 CYP4F24P_ENST00000587443.2_RNA TCTTTAGGATCGCGGTCCTTC 0.562000 18 66 0 0 0.00152264 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747342 62747342 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:62747342C>T ENST00000377871.3 - 7 1382 c.1116G>A c.(1114-1116)gtG>gtA p.V372V SLC22A6_ENST00000458333.2_Silent_p.V372V|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Silent_p.V372V|SLC22A6_ENST00000421062.2_Silent_p.V372V NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 372 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CACCAAAGATCACCTGGATTA 0.567000 23 22 0 0 0.000586117 0 0 CAPN11 11131 broad.mit.edu 37 6 44137222 44137222 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:44137222G>A ENST00000542245.1 + 3 331 c.293G>A c.(292-294)gGc>gAc p.G98D CAPN11_ENST00000398776.1_Missense_Mutation_p.G98D Q9UMQ6 CAN11_HUMAN calpain 11 98 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AAGGACCTGGGCCCCAACTCC 0.572000 6 6 0 0 0.00116845 0 0 GPR39 2863 broad.mit.edu 37 2 133174800 133174800 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:133174800G>A ENST00000329321.3 + 1 654 c.185G>A c.(184-186)gGa>gAa p.G62E NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 62 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGAAGAAAGGATACTTGCAG 0.517000 29 67 0 0 0.00127121 0 0 LOC154761 154761 broad.mit.edu 37 7 143510097 143510097 + RNA SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143510097G>T ENST00000494978.1 - 0 1481 NR_015421.1 ACCAAGGCCAGGAAGCTATCT 0.557000 6 41 3.09899e-07 1.13995e-06 0.000274275 1 0 ARHGAP32 9743 broad.mit.edu 37 11 128840324 128840324 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:128840324C>T ENST00000310343.9 - 22 4741 c.4742G>A c.(4741-4743)cGg>cAg p.R1581Q ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1581 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.R1581L(1)|p.R1232L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTGCACTCTCCGGATGGTAGG 0.552000 13 12 0 0 0.00244969 0 0 CLSTN2 64084 broad.mit.edu 37 3 140123497 140123497 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:140123497G>A ENST00000458420.3 + 4 716 c.526G>A c.(526-528)Gac>Aac p.D176N NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 176 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding 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 CAAGATCTATGACAGCATTCT 0.527000 HNSCC(16;0.037) 23 49 0 0 0.000586117 0 0 ZNF28 7576 broad.mit.edu 37 19 53311333 53311333 + Silent SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53311333T>C ENST00000457749.2 - 3 188 c.69A>G c.(67-69)aaA>aaG p.K23K ZNF28_ENST00000594602.1_Silent_p.K23K|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000464469.2_5'UTR NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GGTCCAGGCATTTCCACTCCT 0.483000 5 148 0 0 0.000673444 0 0 OR4M1 441670 broad.mit.edu 37 14 20249099 20249099 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20249099C>T ENST00000315957.4 + 1 699 c.618C>T c.(616-618)atC>atT p.I206I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GTGGTCTGATCTCTGTGGTGT 0.473000 29 117 0 0 0.00209593 0 0 LEPREL1 55214 broad.mit.edu 37 3 189688623 189688623 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:189688623C>T ENST00000319332.5 - 13 2072 c.1875G>A c.(1873-1875)atG>atA p.M625I LEPREL1_ENST00000427335.2_Missense_Mutation_p.M444I NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 625 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus 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 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTTAGCATCCATCTCTGTGA 0.308000 10 49 0 0 0.00244969 0 0 DUOX1 53905 broad.mit.edu 37 15 45431792 45431792 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:45431792G>A ENST00000321429.4 + 13 1791 c.1384G>A c.(1384-1386)Gac>Aac p.D462N DUOX1_ENST00000389037.3_Missense_Mutation_p.D462N|DUOX1_ENST00000561166.1_Missense_Mutation_p.D108N NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 462 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCGGAGCAATGACACTGTGAG 0.607000 10 7 0 0 0.000673444 0 0 TRIM17 51127 broad.mit.edu 37 1 228596903 228596903 + Missense_Mutation SNP C C T rs145945297 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228596903C>T ENST00000366697.2 - 5 1809 c.853G>A c.(853-855)Gga>Aga p.G285R TRIM17_ENST00000295033.3_Missense_Mutation_p.G285R|TRIM17_ENST00000366698.2_Missense_Mutation_p.G285R|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Missense_Mutation_p.G285R Q9Y577 TRI17_HUMAN tripartite motif containing 17 285 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) TCAATCTGTCCGGGAACTCTG 0.602000 34 136 0 0 0.00128727 0 0 ITGA1 3672 broad.mit.edu 37 5 52240865 52240865 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:52240865G>A ENST00000282588.6 + 27 3836 c.3378_splice c.e27+1 p.E1126_splice CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 1126 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AAAAAAGAGAGGTAAGTGCAA 0.338000 47 118 0 0 0.000781405 0 0 RGR 5995 broad.mit.edu 37 10 86014182 86014182 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:86014182A>C ENST00000359452.4 + 5 663 c.625A>C c.(625-627)Aag>Cag p.K209Q RGR_ENST00000358110.5_Missense_Mutation_p.K205Q NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 205 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 GAAACTGGGGAAGAGTGGCCA 0.522000 28 21 0 0 0.00127121 0 0 MUC16 94025 broad.mit.edu 37 19 9086274 9086274 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9086274G>A ENST00000397910.4 - 1 5744 c.5541C>T c.(5539-5541)ctC>ctT p.L1847L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1847 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L1847L(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 CCCCATGGCTGAGGTCAAGTG 0.502000 11 51 0 0 0.000978159 0 0 ZNF41 7592 broad.mit.edu 37 X 47308035 47308035 + Silent SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:47308035T>G ENST00000377065.4 - 5 1773 c.1134A>C c.(1132-1134)acA>acC p.T378T ZNF41_ENST00000313116.7_Silent_p.T378T|ZNF41_ENST00000397050.2_Silent_p.T388T NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 420 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) GTTTTTCTCCTGTATGAATTC 0.403000 44 2 0 0 0.000680045 0 0 WARS2 10352 broad.mit.edu 37 1 119576822 119576822 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:119576822G>A ENST00000369426.5 - 5 533 c.530C>T c.(529-531)cCt>cTt p.P177L WARS2_ENST00000235521.4_Missense_Mutation_p.P177L|WARS2_ENST00000537870.1_Missense_Mutation_p.P83L Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 177 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) CTCCCCAACAGGAACGTGTGT 0.443000 16 88 0 0 0.000566183 0 0 SPEG 10290 broad.mit.edu 37 2 220354402 220354402 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220354402C>T ENST00000312358.7 + 36 8794 c.8662C>T c.(8662-8664)Cct>Tct p.P2888S SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2888 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCCTCCACTCCTCAAGGGGT 0.627000 51 154 0 0 0.000781405 0 0 GFPT2 9945 broad.mit.edu 37 5 179743354 179743354 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:179743354G>A ENST00000253778.8 - 13 1429 c.1260C>T c.(1258-1260)ttC>ttT p.F420F NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 420 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) ACTGGCTGATGAAAAAGCAAA 0.493000 7 23 0 0 0.000157383 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315350 22315350 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22315350G>A ENST00000390434.3 + 0 513 TCCACCTGACGAAACCCTCAG 0.512000 14 40 0 0 0.000958276 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751143 140751143 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140751143C>T ENST00000576222.1 + 1 1313 c.1182C>T c.(1180-1182)atC>atT p.I394I PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTTAAAATCGTTCAAGATA 0.453000 12 30 0 0 0.00136819 0 0 WDR75 84128 broad.mit.edu 37 2 190324142 190324142 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:190324142C>T ENST00000314761.4 + 8 830 c.770C>T c.(769-771)tCa>tTa p.S257L NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 257 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TTGGCTTTTTCAGTGACAGGT 0.294000 22 93 0 0 0.000586117 0 0 KIAA1217 56243 broad.mit.edu 37 10 24822121 24822121 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:24822121G>A ENST00000376451.2 + 11 2678 c.2418G>A c.(2416-2418)gaG>gaA p.E806E KIAA1217_ENST00000458595.1_Silent_p.E1088E|KIAA1217_ENST00000376462.1_Silent_p.E1043E|KIAA1217_ENST00000396445.1_Silent_p.E806E|KIAA1217_ENST00000376454.3_Silent_p.E1123E|KIAA1217_ENST00000376452.3_Silent_p.E1087E|KIAA1217_ENST00000396446.1_Silent_p.E806E|KIAA1217_ENST00000307544.6_Silent_p.E806E Q5T5P2 SKT_HUMAN KIAA1217 1123 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CAAAGGATGAGGAGGAAGAAG 0.547000 13 20 0 0 0.000308642 0 0 MYO5C 55930 broad.mit.edu 37 15 52531999 52531999 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:52531999G>A ENST00000261839.7 - 21 2795 c.2634C>T c.(2632-2634)atC>atT p.I878I MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 878 IQ 5. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CGAATCGTCGGATACTCTGGA 0.438000 21 25 0 0 0.00152264 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840323 128840323 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:128840323C>T ENST00000310343.9 - 22 4742 c.4743G>A c.(4741-4743)cgG>cgA p.R1581R ARHGAP32_ENST00000392657.3_Silent_p.R1232R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.R1232R NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1581 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ACTGCACTCTCCGGATGGTAG 0.547000 13 12 0 0 0.00244969 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688741 30688741 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30688741G>A ENST00000215790.7 - 9 1314 c.1150C>T c.(1150-1152)Ccg>Tcg p.P384S TBC1D10A_ENST00000403477.3_Missense_Mutation_p.P391S|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.P296S NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 384 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGCCTGGGCGGGGAGCGGCAC 0.657000 54 35 0 0 0.000781405 0 0 EIF3A 8661 broad.mit.edu 37 10 120801559 120801559 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:120801559G>A ENST00000369144.3 - 19 3600 c.3473C>T c.(3472-3474)cCc>cTc p.P1158L EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P1124L NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1158 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ACCCCGTCTGGGAAACCGATC 0.478000 20 73 0 0 0.00278032 0 0 DYTN 391475 broad.mit.edu 37 2 207530696 207530696 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207530696G>A ENST00000452335.2 - 10 1154 c.1038C>T c.(1036-1038)tcC>tcT p.S346S NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 346 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTTCTTCCTGGGAGGTGTATA 0.413000 31 38 0 0 0.00178596 0 0 TMEM139 135932 broad.mit.edu 37 7 142983219 142983219 + Missense_Mutation SNP C C T rs143413842 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142983219C>T ENST00000359333.3 + 2 682 c.169C>T c.(169-171)Cgg>Tgg p.R57W TMEM139_ENST00000409102.1_Missense_Mutation_p.R57W|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Missense_Mutation_p.R57W|TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409244.1_Missense_Mutation_p.R57W|TMEM139_ENST00000409541.1_Missense_Mutation_p.R57W NM_001242775.1 NP_001229704.1 Q8IV31 TM139_HUMAN transmembrane protein 139 57 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) TCTCCTGGTCCGGTTTCTGGA 0.547000 23 91 0 0 0.00188189 0 0 CCDC180 100499483 broad.mit.edu 37 9 100127970 100127970 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:100127970C>T ENST00000375202.2 + 44 5480 c.4128C>T c.(4126-4128)atC>atT p.I1376I CCDC180_ENST00000529487.1_Silent_p.I1376I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.I1321I|CCDC180_ENST00000395220.1_3'UTR coiled-coil domain containing 180 TTAAGGGGATCATCTTGACCC 0.552000 21 94 0 0 0.000720815 0 0 FAM83A 84985 broad.mit.edu 37 8 124219445 124219445 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:124219445C>T ENST00000518448.1 + 5 2836 c.822C>T c.(820-822)ttC>ttT p.F274F FAM83A_ENST00000522648.1_Silent_p.F218F|FAM83A_ENST00000276699.6_Silent_p.F274F|FAM83A_ENST00000536633.1_Silent_p.F274F|FAM83A_ENST00000318462.6_Silent_p.F274F|FAM83A_ENST00000546351.1_Silent_p.F218F Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 274 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TCTCCAAGTTCACAGGCCAGG 0.637000 8 38 0 0 0.000274275 0 0 THEMIS 387357 broad.mit.edu 37 6 128134490 128134490 + Silent SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:128134490T>A ENST00000368250.1 - 5 1557 c.1059A>T c.(1057-1059)ggA>ggT p.G353G THEMIS_ENST00000537166.1_Silent_p.G397G|THEMIS_ENST00000368248.2_Silent_p.G432G|THEMIS_ENST00000543064.1_Silent_p.G432G Q8N1K5 THMS1_HUMAN thymocyte selection associated 432 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CTACAAAACCTCCTTCCATGT 0.443000 18 23 0 0 0.000958276 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691916 106691916 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106691916G>A ENST00000390607.2 - 0 186 AGAGTCTCAGGGACCCCCCAG 0.587000 21 58 0 0 0.00229938 0 0 DPP4 1803 broad.mit.edu 37 2 162873628 162873628 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:162873628C>T ENST00000360534.3 - 17 2018 c.1458G>A c.(1456-1458)gtG>gtA p.V486V DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 486 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) CTTTATCATTCACGCTGCTGT 0.343000 13 24 0 0 0.00185496 0 0 KEL 3792 broad.mit.edu 37 7 142650939 142650939 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142650939C>T ENST00000355265.2 - 9 1503 c.1029G>A c.(1027-1029)ttG>ttA p.L343L KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 343 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ACATGTTTTTCAAATATTCCA 0.557000 57 229 0 0 0.000781405 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85521762 85521762 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:85521762A>T ENST00000393217.2 + 18 4221 c.4160A>T c.(4159-4161)aAt>aTt p.N1387I NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1387 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AAAAGAGAAAATATTGTGAAT 0.348000 56 45 0 0 0.000781405 0 0 ARID1B 57492 broad.mit.edu 37 6 157405823 157405823 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:157405823C>T ENST00000346085.5 + 6 2066 c.2065C>T c.(2065-2067)Ccc>Tcc p.P689S ARID1B_ENST00000275248.4_Missense_Mutation_p.P618S|ARID1B_ENST00000350026.5_Missense_Mutation_p.P676S|ARID1B_ENST00000367148.1_Missense_Mutation_p.P676S NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 676 Ser-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TGATGACCTCCCCACGGGAAC 0.502000 20 25 0 0 0.00152264 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826237 43826237 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:43826237C>T ENST00000389420.3 - 21 2965 c.2966G>A c.(2965-2967)cGa>cAa p.R989Q ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R989Q|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R143Q NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 989 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATAAGATTCTCGAGACCTTTC 0.368000 14 56 0 0 0.000308642 0 0 FIGN 55137 broad.mit.edu 37 2 164467000 164467000 + Missense_Mutation SNP G G A rs2231904 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:164467000G>A ENST00000333129.3 - 3 1656 c.1342C>T c.(1342-1344)Cgt>Tgt p.R448C FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 448 R -> C (in dbSNP:rs2231904). nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 GTAGCTGCACGGAGTCCAGGG 0.532000 34 45 0 0 0.00209593 0 0 ERBB4 2066 broad.mit.edu 37 2 212251709 212251709 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:212251709G>A ENST00000342788.4 - 27 3660 c.3350C>T c.(3349-3351)cCc>cTc p.P1117L ERBB4_ENST00000436443.1_Missense_Mutation_p.P1101L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1107L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1117 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTGGACATGGGGTGCCACTGG 0.562000 TSP Lung(8;0.080) 27 48 0 0 0.001512 0 0 CFTR 1080 broad.mit.edu 37 7 117282597 117282597 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:117282597G>A ENST00000003084.6 + 23 3955 c.3823G>A c.(3823-3825)Gat>Aat p.D1275N AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.D1214N NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1275 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGTGTCTTGGGATTCAATAAC 0.403000 Cystic Fibrosis 19 18 0 0 0.00121646 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986310 51986310 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51986310A>C ENST00000396477.4 + 4 734 c.713A>C c.(712-714)gAt>gCt p.D238A CEACAM18_ENST00000451626.1_Missense_Mutation_p.D299A NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 299 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AATCCTGATGATTTCAACGGC 0.537000 46 168 0 0 0.000781405 0 0 ABCD1 215 broad.mit.edu 37 X 153001939 153001939 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153001939C>T ENST00000218104.3 + 4 1764 c.1365C>T c.(1363-1365)gtC>gtT p.V455V U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 455 fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTCTGGTGTCCGTGTGGAGG 0.627000 17 16 0 0 0.00074312 0 0 KRBA1 84626 broad.mit.edu 37 7 149422475 149422475 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:149422475C>T ENST00000255992.10 + 10 1595 c.1196C>T c.(1195-1197)tCg>tTg p.S399L KRBA1_ENST00000319551.8_Missense_Mutation_p.S399L|KRBA1_ENST00000485033.2_Missense_Mutation_p.S399L|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 399 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAAATGGGTCGTCACCTTCC 0.582000 11 11 0 0 0.000978159 0 0 NDUFA9 4704 broad.mit.edu 37 12 4768259 4768259 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:4768259C>T ENST00000266544.5 + 5 488 c.468C>T c.(466-468)tcC>tcT p.S156S NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 156 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) CTCAACTGTCCAAGGAAGCTG 0.328000 21 24 0 0 0.00229938 0 0 ARGFX 503582 broad.mit.edu 37 3 121305037 121305037 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121305037C>T ENST00000334384.3 + 4 548 c.538C>T c.(538-540)Cca>Tca p.P180S NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 180 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) CAGCTCCCTTCCATCTCAGCC 0.493000 39 89 0 0 0.0025221 0 0 PRSS1 5644 broad.mit.edu 37 7 142460770 142460770 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142460770T>G ENST00000486171.1 + 6 702 c.685T>G c.(685-687)Tcc>Gcc p.S229A PRSS1_ENST00000311737.7_Missense_Mutation_p.S215A P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 215 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGGAGTTGTCTCCTGGGGTGA 0.502000 19 100 0 0 0.00152264 0 0 ACSS3 79611 broad.mit.edu 37 12 81647101 81647101 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81647101G>A ENST00000548058.1 + 14 2645 c.1735G>A c.(1735-1737)Ggt>Agt p.G579S ACSS3_ENST00000261206.3_Missense_Mutation_p.G578S|ACSS3_ENST00000548324.1_Missense_Mutation_p.G261S Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 579 mitochondrion acetate-CoA ligase activity|ATP binding p.G579C(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CCTTTCCCATGGTACCGTGGC 0.363000 82 49 0 0 0.000781405 0 0 SLC22A16 85413 broad.mit.edu 37 6 110759941 110759941 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:110759941G>A ENST00000368919.3 - 5 1359 c.1293C>T c.(1291-1293)gtC>gtT p.V431V SLC22A16_ENST00000439654.1_Silent_p.V431V|SLC22A16_ENST00000330550.4_Silent_p.V397V NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 431 V -> I (in dbSNP:rs35948062). acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity 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) TCACCATAACGACACCACAGG 0.458000 27 27 0 0 0.001512 0 0 KIAA1033 23325 broad.mit.edu 37 12 105520946 105520946 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:105520946C>T ENST00000332180.5 + 13 1165 c.1078C>T c.(1078-1080)Cct>Tct p.P360S NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 360 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TATTTGGTTTCCTGATAATTT 0.368000 45 26 0 0 0.000781405 0 0 COL6A3 1293 broad.mit.edu 37 2 238253148 238253148 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:238253148C>T ENST00000295550.4 - 36 7965 c.7513G>A c.(7513-7515)Gga>Aga p.G2505R COL6A3_ENST00000353578.4_Missense_Mutation_p.G2299R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1898R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2305R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2304R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2299R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2505 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ATTAGGAATCCGTTCCTCACA 0.507000 66 69 0 0 0.000781405 0 0 KERA 11081 broad.mit.edu 37 12 91449601 91449601 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:91449601T>C ENST00000266719.3 - 2 705 c.458A>G c.(457-459)aAg>aGg p.K153R NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 153 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 TCTGGACACCTTATTTCTAGC 0.403000 9 6 0 0 0.000442599 0 0 PDYN 5173 broad.mit.edu 37 20 1961157 1961157 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1961157C>T ENST00000217305.2 - 4 802 c.577G>A c.(577-579)Ggg>Agg p.G193R PDYN_ENST00000539905.1_Missense_Mutation_p.G193R|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.G193R NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 193 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.G193R(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCCCGTCCCCCTCCCCAGCC 0.587000 60 24 0 0 0.000781405 0 0 LAMC3 10319 broad.mit.edu 37 9 133961098 133961098 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:133961098G>A ENST00000361069.4 + 25 4351 c.4218G>A c.(4216-4218)aaG>aaA p.K1406K LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1406 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGTTGGCCAAGGACAGTGCCA 0.637000 6 34 0 0 0.00116845 0 0 OLFML2A 169611 broad.mit.edu 37 9 127563899 127563899 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:127563899C>T ENST00000373580.3 + 5 876 c.876C>T c.(874-876)acC>acT p.T292T OLFML2A_ENST00000288815.5_Silent_p.T78T NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 292 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GGGGCTTCACCTACTACAAGG 0.637000 25 14 0 0 0.00127121 0 0 LRBA 987 broad.mit.edu 37 4 151356749 151356749 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:151356749C>A ENST00000535741.1 - 46 7506 c.7033G>T c.(7033-7035)Gat>Tat p.D2345Y LRBA_ENST00000510413.1_Missense_Mutation_p.D2345Y|LRBA_ENST00000357115.3_Missense_Mutation_p.D2356Y|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.D2345Y P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2356 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ACCTTAATATCAGAGGTATCA 0.358000 66 44 4.09171e-25 1.51625e-24 0.000781405 1 0 CYP4Z1 199974 broad.mit.edu 37 1 47534324 47534324 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47534324C>T ENST00000334194.3 + 2 211 c.208C>T c.(208-210)Cat>Tat p.H70Y NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 70 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TGAGGTGTATCATAAGCTGAT 0.463000 23 99 0 0 0.00278032 0 0 SEZ6L 23544 broad.mit.edu 37 22 26693009 26693009 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26693009G>A ENST00000529632.2 + 4 1321 c.1125G>A c.(1123-1125)caG>caA p.Q375Q SEZ6L_ENST00000403121.1_Silent_p.Q148Q|SEZ6L_ENST00000248933.6_Silent_p.Q375Q|SEZ6L_ENST00000404234.3_Silent_p.Q375Q|SEZ6L_ENST00000343706.4_Silent_p.Q375Q|SEZ6L_ENST00000360929.3_Silent_p.Q375Q|SEZ6L_ENST00000402979.1_Silent_p.Q148Q NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 375 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GGACCTTCCAGGACGACGGCC 0.592000 9 51 0 0 0.000673444 0 0 OR4X2 119764 broad.mit.edu 37 11 48267404 48267404 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:48267404C>T ENST00000302329.3 + 1 797 c.749C>T c.(748-750)tCt>tTt p.S250F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GTCTTCAACTCTCTGAGGCCT 0.522000 5 13 0 0 0.00116845 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42851186 42851186 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:42851186C>T ENST00000398585.3 - 7 767 c.707G>A c.(706-708)gGa>gAa p.G236E TMPRSS2_ENST00000458356.1_Missense_Mutation_p.G199E|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.G199E NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 199 SRCR. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity 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) ATCCACTATTCCTTGGCTAGA 0.368000 T """ERG, ETV1, ETV4, ETV5""" prostate 35 86 0 0 0.00111076 0 0 KIF27 55582 broad.mit.edu 37 9 86504117 86504117 + Nonsense_Mutation SNP G G A rs148451065 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:86504117G>A ENST00000297814.2 - 7 2004 c.1861C>T c.(1861-1863)Cga>Tga p.R621* KIF27_ENST00000334204.2_Nonsense_Mutation_p.R621*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.R621*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.R12* NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 621 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CTTCGTGTTCGAAATCCAGCA 0.418000 115 107 0 0 0.000781405 0 0 GPR171 29909 broad.mit.edu 37 3 150916724 150916724 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:150916724C>T ENST00000309180.5 - 3 680 c.450G>A c.(448-450)atG>atA p.M150I MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 150 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGGAATCATCATATTTGGCA 0.378000 24 60 0 0 0.00278032 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270521 1270521 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1270521C>T ENST00000348261.5 + 35 6837 c.6589C>T c.(6589-6591)Cct>Tct p.P2197S CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2191S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2191S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2197 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGTGGAACCCCCTGCGGAGGA 0.721000 13 37 0 0 0.000566183 0 0 VPS33A 65082 broad.mit.edu 37 12 122748207 122748207 + Missense_Mutation SNP G G A rs150472752 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122748207G>A ENST00000267199.4 - 3 320 c.208C>T c.(208-210)Cgt>Tgt p.R70C VPS33A_ENST00000451053.2_Missense_Mutation_p.R70C|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R70C NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 70 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.R70C(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GCCGGCAAACGATTTCCTTTA 0.373000 18 39 0 0 0.000566183 0 0 SLC41A2 84102 broad.mit.edu 37 12 105322023 105322023 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:105322023G>A ENST00000258538.3 - 1 410 c.283C>T c.(283-285)Cat>Tat p.H95Y NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 95 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 TTATTGGCATGAAAAGACTGC 0.413000 17 36 0 0 0.000958276 0 0 MFNG 4242 broad.mit.edu 37 22 37881962 37881962 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:37881962T>G ENST00000416983.3 - 1 463 c.254A>C c.(253-255)cAg>cCg p.Q85P MFNG_ENST00000356998.3_Splice_Site_p.Q85_splice NM_001166343.1 NP_001159815.1 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 85 Q -> L (in Ref. 1; AAC51358). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) ACTTGTCACCTGTTCCCTGGT 0.612000 9 65 0 0 0.00136819 0 0 ACAN 176 broad.mit.edu 37 15 89400846 89400846 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89400846A>G ENST00000439576.2 + 12 5404 c.5030A>G c.(5029-5031)gAa>gGa p.E1677G ACAN_ENST00000561243.1_Missense_Mutation_p.E1677G|ACAN_ENST00000559004.1_Missense_Mutation_p.E1677G|ACAN_ENST00000352105.7_Missense_Mutation_p.E1677G NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1677 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ACTGCAAGTGAACTGGAAGGG 0.527000 33 74 0 0 0.00283554 0 0 FANCB 2187 broad.mit.edu 37 X 14868780 14868780 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:14868780G>A ENST00000398334.1 - 7 1610 c.1343C>T c.(1342-1344)cCt>cTt p.P448L FANCB_ENST00000324138.3_Missense_Mutation_p.P448L NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 448 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ACCACAAAGAGGAACAAGACA 0.294000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 15 17 0 0 0.000308642 0 0 FDXR 2232 broad.mit.edu 37 17 72860060 72860060 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:72860060C>A ENST00000455107.2 - 10 1496 c.1080G>T c.(1078-1080)ttG>ttT p.L360F FDXR_ENST00000442102.2_Missense_Mutation_p.G421W|FDXR_ENST00000583917.1_Missense_Mutation_p.G350W|FDXR_ENST00000582944.1_Missense_Mutation_p.G370W|FDXR_ENST00000293195.5_Missense_Mutation_p.G378W|FDXR_ENST00000544854.1_Missense_Mutation_p.G326W|FDXR_ENST00000420580.2_Missense_Mutation_p.G338W|FDXR_ENST00000413947.2_Missense_Mutation_p.G409W|FDXR_ENST00000581530.1_Missense_Mutation_p.G384W P22570 ADRO_HUMAN ferredoxin reductase 0 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GGGATGACCCCAAGCTTGGAG 0.592000 9 228 0.000978159 0.00357807 0.000978159 1 0 PI4KAP1 728233 broad.mit.edu 37 22 20386754 20386754 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:20386754G>A ENST00000430523.3 - 0 1758 NR_003563.1 TTGAGGAGTGGAAAAGGACTC 0.562000 8 34 0 0 0.000274275 0 0 PZP 5858 broad.mit.edu 37 12 9333697 9333697 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:9333697G>A ENST00000261336.2 - 15 1749 c.1721C>T c.(1720-1722)cCc>cTc p.P574L PZP_ENST00000381997.2_Missense_Mutation_p.P443L NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TGAGGCTGGGGGACTTTGTGC 0.542000 31 27 0 0 0.000814825 0 0 ABCA8 10351 broad.mit.edu 37 17 66937028 66937028 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:66937028A>G ENST00000269080.2 - 3 309 c.172T>C c.(172-174)Tca>Cca p.S58P ABCA8_ENST00000586539.1_Missense_Mutation_p.S58P|ABCA8_ENST00000430352.2_Missense_Mutation_p.S58P NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 58 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GTAAGCAGTGAAGAAAAATCA 0.353000 5 40 0 0 0.000602214 0 0 COBL 23242 broad.mit.edu 37 7 51096981 51096981 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:51096981G>A ENST00000395542.2 - 12 2242 c.2058C>T c.(2056-2058)tcC>tcT p.S686S COBL_ENST00000265136.7_Silent_p.S604S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 604 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CGACGTCATGGGAAGCGGGGT 0.547000 18 83 0 0 0.00121646 0 0 ALMS1P 200420 broad.mit.edu 37 2 73899570 73899570 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:73899570C>T ENST00000450720.1 + 0 442 NR_003683.2 TGCTCTTTACCAGTTATCCTG 0.398000 12 6 0 0 0.00244969 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501824 140501824 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140501824G>A ENST00000194152.1 + 1 244 c.244G>A c.(244-246)Gat>Aat p.D82N NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 82 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAGACTGGAGATTTGCTTCT 0.547000 18 39 0 0 0.000958276 0 0 OR5R1 219479 broad.mit.edu 37 11 56185304 56185304 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56185304C>T ENST00000312253.1 - 1 404 c.405G>A c.(403-405)ctG>ctA p.L135L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) TTCTTGACATCAGTGTTGAAT 0.458000 17 24 0 0 0.00074312 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024737 203024737 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:203024737C>T ENST00000367240.2 + 15 2471 c.1944C>T c.(1942-1944)tcC>tcT p.S648S PPFIA4_ENST00000599966.1_Silent_p.S163S|PPFIA4_ENST00000295706.4_Silent_p.S163S|PPFIA4_ENST00000272198.6_Silent_p.S163S|PPFIA4_ENST00000414050.2_Silent_p.S376S|PPFIA4_ENST00000447715.2_Silent_p.S647S O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 163 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GCGGCCGCTCCACACCTAAGC 0.657000 16 55 0 0 0.00074312 0 0 ZBBX 79740 broad.mit.edu 37 3 167031864 167031864 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:167031864C>T ENST00000392766.2 - 16 1655 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K ZBBX_ENST00000455345.2_Missense_Mutation_p.E439K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E439K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E439K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E410K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 439 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATGCCATTTTCATATGGAAAG 0.289000 29 47 0 0 0.00106085 0 0 MEIS3 56917 broad.mit.edu 37 19 47920552 47920552 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:47920552C>T ENST00000331559.5 - 2 509 c.68G>A c.(67-69)aGc>aAc p.S23N MEIS3_ENST00000561096.1_Missense_Mutation_p.S111N|MEIS3_ENST00000559524.1_Missense_Mutation_p.S23N|MEIS3_ENST00000558555.1_Missense_Mutation_p.S23N|MEIS3_ENST00000441740.2_Missense_Mutation_p.S23N|MEIS3_ENST00000561293.1_Missense_Mutation_p.S23N NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 23 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CTCTGGGAAGCTAGCCAGGGC 0.687000 15 75 0 0 0.000566183 0 0 ITGAD 3681 broad.mit.edu 37 16 31426181 31426181 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31426181G>A ENST00000389202.2 + 18 2201 c.2151_splice c.e18-1 p.D718_splice NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 718 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCTCTCTCAGGATTGTGTGGA 0.587000 80 51 0 0 0.000781405 0 0 HOXD13 3239 broad.mit.edu 37 2 176958087 176958087 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:176958087G>A ENST00000392539.3 + 1 469 c.469G>A c.(469-471)Gcc>Acc p.A157T NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 157 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) ATCGCCGCACGCCTCGCTGGG 0.642000 T NUP98 AML* 9 41 0 0 0.000442599 0 0 IGF2R 3482 broad.mit.edu 37 6 160471585 160471585 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:160471585C>T ENST00000356956.1 + 19 2743 c.2595C>T c.(2593-2595)ctC>ctT p.L865L NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 865 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GCGGCAGCCTCCTTCTGGAAT 0.572000 23 22 0 0 0.000720815 0 0 SPRED1 161742 broad.mit.edu 37 15 38643461 38643461 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:38643461T>A ENST00000299084.4 + 7 1791 c.931T>A c.(931-933)Ttt>Att p.F311I NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 311 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CTCTGTGGTATTTAAGACGCA 0.388000 Legius syndrome 21 7 0 0 0.00121646 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881442 108881442 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:108881442C>T ENST00000329106.2 + 6 783 c.783C>T c.(781-783)atC>atT p.I261I NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 261 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ACCACTCCATCTCCCCTTTTA 0.403000 13 51 0 0 0.000308642 0 0 SF3B4 10262 broad.mit.edu 37 1 149895580 149895580 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149895580G>A ENST00000271628.8 - 6 1713 c.1129C>T c.(1129-1131)Cct>Tct p.P377S NM_005850.4 NP_005841.1 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4, 49kDa 377 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATCAGTGGAGGAGGTCCACGC 0.617000 17 64 0 0 0.00121646 0 0 ZNF106 64397 broad.mit.edu 37 15 42743985 42743985 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:42743985A>C ENST00000263805.4 - 2 742 c.416T>G c.(415-417)tTt>tGt p.F139C ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 AGTATTATTAAAGCCATCTTT 0.493000 24 37 0 0 0.00229938 0 0 SPN 6693 broad.mit.edu 37 16 29675288 29675288 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:29675288C>T ENST00000360121.3 + 2 331 c.239C>T c.(238-240)tCc>tTc p.S80F SPN_ENST00000395389.2_Missense_Mutation_p.S80F|AC009133.19_ENST00000449759.1_Intron NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 80 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CTTTGGACTTCCATTGGTGCC 0.532000 61 53 0 0 0.000781405 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629941 32629941 + Missense_Mutation SNP T T G rs9274001 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32629941T>G ENST00000399084.1 - 4 642 c.464A>C c.(463-465)tAt>tCt p.Y155S HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.Y155S|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.Y65S|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.Y155S|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.Y155S P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 155 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGGCCTGGATAGAAATCTGT 0.562000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 19 26 0 0 0.000958276 0 0 IGHV1-8 28472 broad.mit.edu 37 14 106539144 106539144 + RNA SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106539144T>C ENST00000390599.2 - 0 347 TAGGCTGTGCTTATGGAGGTG 0.527000 140 50 0 0 0.000781405 0 0 ZNF385D 79750 broad.mit.edu 37 3 21466984 21466984 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:21466984C>T ENST00000281523.2 - 6 1370 c.852_splice c.e6+1 p.Q284_splice NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 284 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TGCTGTTTACCTGTTTAAGTT 0.408000 14 56 0 0 0.00244969 0 0 OR6C76 390326 broad.mit.edu 37 12 55820117 55820117 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55820117C>T ENST00000328314.3 + 1 80 c.80C>T c.(79-81)tCg>tTg p.S27L NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 GTGATTTTCTCGTTCCTATTT 0.418000 10 29 0 0 0.000442599 0 0 DSC3 1825 broad.mit.edu 37 18 28588235 28588235 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28588235C>T ENST00000434452.1 - 10 1674 c.1520_splice c.e10+1 p.R507_splice DSC3_ENST00000360428.4_Splice_Site_p.R507_splice NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 507 Cadherin 4. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTATTTTTACCTTAAACCATT 0.318000 14 32 0 0 0.000422831 0 0 NDST4 64579 broad.mit.edu 37 4 115858526 115858526 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:115858526G>A ENST00000264363.2 - 5 2033 c.1355C>T c.(1354-1356)cCa>cTa p.P452L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 452 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity 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) TTTCAGATGTGGATATTCTTC 0.468000 46 26 0 0 0.000781405 0 0 TMEM252 169693 broad.mit.edu 37 9 71152294 71152294 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:71152294C>T ENST00000377311.3 - 2 446 c.394G>A c.(394-396)Gaa>Aaa p.E132K NM_153237.1 NP_694969.1 transmembrane protein 252 TCCTGGAATTCCAGGCCCGTC 0.552000 18 32 0 0 0.000958276 0 0 POLR2B 5431 broad.mit.edu 37 4 57896476 57896476 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:57896476G>A ENST00000381227.1 + 25 3759 c.3346G>A c.(3346-3348)Gtt>Att p.V1116I POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116I|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041I|POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109I P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 1116 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 binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.V1116F(2)|p.V1116I(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TCCATATCAGGTTCATGTTTG 0.458000 33 26 0 0 0.00283554 0 0 SCN10A 6336 broad.mit.edu 37 3 38768117 38768117 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38768117C>T ENST00000449082.2 - 16 3066 c.3067G>A c.(3067-3069)Gaa>Aaa p.E1023K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1023 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGGATCACTTCCTGCTGGAAG 0.532000 23 59 0 0 0.000586117 0 0 USP21 27005 broad.mit.edu 37 1 161130441 161130441 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161130441C>T ENST00000368002.3 + 3 388 c.11C>T c.(10-12)gCc>gTc p.A4V USP21_ENST00000289865.8_Missense_Mutation_p.A4V|USP21_ENST00000368001.1_Missense_Mutation_p.A4V NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 4 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ATGCCCCAGGCCTCTGAGCAC 0.602000 20 76 0 0 0.00188189 0 0 SEC14L5 9717 broad.mit.edu 37 16 5057370 5057370 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:5057370A>C ENST00000251170.7 + 13 1635 c.1455A>C c.(1453-1455)ggA>ggC p.G485G NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 485 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TCCCCGAAGGAGGGCTGGTCC 0.602000 7 27 0 0 0.000442599 0 0 LAMA5 3911 broad.mit.edu 37 20 60892525 60892525 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:60892525C>T ENST00000252999.3 - 55 7453 c.7387G>A c.(7387-7389)Ggg>Agg p.G2463R NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2463 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCCGAGCCCCATCCAGGCTG 0.677000 6 31 0 0 0.000157383 0 0 ADAM2 2515 broad.mit.edu 37 8 39626980 39626980 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:39626980G>A ENST00000265708.4 - 12 1246 c.1143C>T c.(1141-1143)ttC>ttT p.F381F ADAM2_ENST00000379853.2_Silent_p.F255F|ADAM2_ENST00000347580.4_Silent_p.F362F|ADAM2_ENST00000521880.1_Silent_p.F381F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 381 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTGCTGTTTGAAAAAAGGAT 0.443000 15 15 0 0 0.000566183 0 0 CBLB 868 broad.mit.edu 37 3 105470439 105470439 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:105470439A>T ENST00000264122.4 - 5 911 c.590T>A c.(589-591)tTc>tAc p.F197Y CBLB_ENST00000394027.3_Missense_Mutation_p.F219Y|CBLB_ENST00000405772.1_Missense_Mutation_p.F197Y|CBLB_ENST00000545639.1_Missense_Mutation_p.F170Y|CBLB_ENST00000403724.1_Missense_Mutation_p.F197Y NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 197 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GCACTGTCTGAATACTTTCCA 0.373000 Mis S AML 13 21 0 0 0.000566183 0 0 PLB1 151056 broad.mit.edu 37 2 28800975 28800975 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:28800975G>A ENST00000422425.2 + 22 1512 c.1466_splice c.e22-1 p.D490_splice PLB1_ENST00000329020.6_Splice_Site_p.D167_splice|PLB1_ENST00000327757.5_Splice_Site_p.D479_splice NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 479 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TTTCCACAGGGATCTACCTGT 0.557000 28 36 0 0 0.00058488 0 0 DMRTC2 63946 broad.mit.edu 37 19 42353036 42353036 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42353036C>T ENST00000269945.3 + 5 672 c.621C>T c.(619-621)ccC>ccT p.P207P DMRTC2_ENST00000596827.1_Silent_p.P207P NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 207 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CTCTGCCTCCCTTCCCTGGTA 0.527000 51 64 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13845071 13845071 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13845071G>A ENST00000265104.4 - 32 5250 c.5146C>T c.(5146-5148)Cgg>Tgg p.R1716W NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1716 Stem (By similarity). R -> L (in CILD3). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGAAAAACCGAGGAAAGCAC 0.443000 Kartagener syndrome 17 25 0 0 0.000566183 0 0 CD72 971 broad.mit.edu 37 9 35612968 35612968 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35612968C>T ENST00000396757.1 - 7 875 c.711G>A c.(709-711)tgG>tgA p.W237* CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.W237* P21854 CD72_HUMAN CD72 molecule 237 C-type lectin. axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATGCATTATCCATCCCGACG 0.413000 47 23 0 0 0.000781405 0 0 C3orf30 152405 broad.mit.edu 37 3 118866239 118866239 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:118866239C>T ENST00000295622.1 + 1 1243 c.1203C>T c.(1201-1203)gaC>gaT p.D401D RP11-484M3.5_ENST00000490594.1_Silent_p.D6D NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 401 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GCCAAGTAGACCTCAATTCCA 0.448000 12 24 0 0 0.000978159 0 0 CUX2 23316 broad.mit.edu 37 12 111748223 111748223 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:111748223C>T ENST00000261726.6 + 15 1791 c.1637C>T c.(1636-1638)cCc>cTc p.P546L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 546 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCGGCGGGGCCCGGGGCAGAG 0.711000 6 15 0 0 0.000157383 0 0 RORB 6096 broad.mit.edu 37 9 77275628 77275628 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:77275628G>A ENST00000376896.2 + 5 1345 c.733G>A c.(733-735)Gaa>Aaa p.E245K RORB_ENST00000396204.2_Missense_Mutation_p.E256K NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 256 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CCACACCTATGAAGAAATTAA 0.448000 36 48 0 0 0.00058488 0 0 ABRA 137735 broad.mit.edu 37 8 107781815 107781815 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:107781815C>T ENST00000311955.3 - 1 658 c.604G>A c.(604-606)Gag>Aag p.E202K NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 202 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TCGGGCCTCTCCTCAGCCTCT 0.592000 156 54 0 0 0.000781405 0 0 PPP6C 5537 broad.mit.edu 37 9 127920583 127920583 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:127920583G>A ENST00000451402.1 - 5 647 c.427C>T c.(427-429)Cgt>Tgt p.R143C PPP6C_ENST00000415905.1_Missense_Mutation_p.R84C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R106C|PPP6C_ENST00000373546.3_Intron NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 106 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 AGTGTAATACGATCAGGCCAT 0.353000 114 115 0 0 0.000781405 0 0 CEP112 201134 broad.mit.edu 37 17 64171218 64171218 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:64171218C>T ENST00000392769.2 - 4 632 c.414G>A c.(412-414)tgG>tgA p.W138* CEP112_ENST00000535342.2_Nonsense_Mutation_p.W138*|CEP112_ENST00000537949.1_Nonsense_Mutation_p.W138* NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 138 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 AAGAGAGTTTCCATGATTCAT 0.418000 22 102 0 0 0.000586117 0 0 PTPRH 5794 broad.mit.edu 37 19 55698954 55698954 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55698954G>A ENST00000376350.3 - 14 2515 c.2493C>T c.(2491-2493)ggC>ggT p.G831G PTPRH_ENST00000263434.5_Silent_p.G653G NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 831 Tyrosine-protein phosphatase. G -> D (in dbSNP:rs36092369). apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ACTGGCTGTGGCCCACCAGGG 0.587000 18 57 0 0 0.00152264 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551667 1551667 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1551667C>T ENST00000381605.4 - 4 932 c.868G>A c.(868-870)Gga>Aga p.G290R RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 290 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GACACATTTCCATTCTCCAAC 0.552000 15 53 0 0 0.00074312 0 0 C1orf173 127254 broad.mit.edu 37 1 75036972 75036972 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75036972G>A ENST00000326665.5 - 14 4640 c.4422C>T c.(4420-4422)ttC>ttT p.F1474F C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1474 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATCCTAATCGGAATTTTTCAG 0.567000 66 80 0 0 0.000781405 0 0 IRF2 3660 broad.mit.edu 37 4 185311898 185311898 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:185311898C>T ENST00000393593.3 - 8 907 c.700G>A c.(700-702)Gaa>Aaa p.E234K NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 234 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) TCAGTCGTTTCGCTTTCTGTT 0.537000 14 45 0 0 0.00244969 0 0 DFNB59 494513 broad.mit.edu 37 2 179325105 179325105 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179325105G>A ENST00000409117.3 + 6 1054 c.698G>A c.(697-699)gGa>gAa p.G233E DFNB59_ENST00000375129.4_Missense_Mutation_p.G233E NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 233 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TCAAAAGGAGGATTTGAAAGG 0.328000 35 31 0 0 0.00148497 0 0 C10orf12 26148 broad.mit.edu 37 10 98741766 98741766 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:98741766C>T ENST00000286067.2 + 1 726 c.619C>T c.(619-621)Cgt>Tgt p.R207C NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 207 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GCCAACTGTTCGTACACTGGC 0.433000 35 36 0 0 0.00111076 0 0 ECEL1 9427 broad.mit.edu 37 2 233348802 233348802 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:233348802C>T ENST00000304546.1 - 7 1526 c.1316G>A c.(1315-1317)cGg>cAg p.R439Q ECEL1_ENST00000409941.1_Missense_Mutation_p.R439Q NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 439 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAAGCAGACCCGGGCCAGCTC 0.627000 31 59 0 0 0.00058488 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419725 105419725 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105419725G>A ENST00000333244.5 - 7 2182 c.2063C>T c.(2062-2064)tCa>tTa p.S688L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 688 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCTGGGGCTGACGCCCCGAA 0.542000 192 70 0 0 0.000781405 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119938786 119938786 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:119938786T>G ENST00000297350.4 - 4 1142 c.764A>C c.(763-765)aAg>aCg p.K255T NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 255 Death 1. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TTTCCATAACTTCAGCAGCTG 0.383000 29 126 0 0 0.00058488 0 0 C1orf173 127254 broad.mit.edu 37 1 75065431 75065431 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75065431C>T ENST00000326665.5 - 11 1892 c.1674G>A c.(1672-1674)gtG>gtA p.V558V RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.V361V NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 558 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTCATCTTTCACATTGTCAC 0.418000 29 20 0 0 0.00127121 0 0 GABRG1 2565 broad.mit.edu 37 4 46043158 46043158 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:46043158G>A ENST00000295452.4 - 9 1412 c.1245C>T c.(1243-1245)ttC>ttT p.F415F NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 415 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGCAACAGAAGAAGCTGGCAC 0.413000 6 29 0 0 0.000157383 0 0 OTP 23440 broad.mit.edu 37 5 76932724 76932724 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:76932724G>A ENST00000306422.3 - 2 1507 c.369C>T c.(367-369)ttC>ttT p.F123F OTP_ENST00000515716.1_5'UTR NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 123 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GAGTCTTGGCGAAGCTCCTCT 0.637000 39 90 0 0 0.00195071 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841430 8841430 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8841430C>T ENST00000324060.2 + 1 115 c.40C>T c.(40-42)Ctg>Ttg p.L14L NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGACTTCATTCTGGTGGGCCT 0.512000 6 39 0 0 0.00116845 0 0 SGSM1 129049 broad.mit.edu 37 22 25270412 25270412 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:25270412C>T ENST00000400359.4 + 13 1329 c.1322C>T c.(1321-1323)tCc>tTc p.S441F SGSM1_ENST00000400358.4_Intron NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 441 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGCACTTCCTCCGTCTCTGTG 0.607000 6 47 0 0 0.00198382 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405795 106405795 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106405795C>T ENST00000390593.2 - 0 230 TGGGGACTGCCTGATCCAGTT 0.527000 25 95 0 0 0.000878237 0 0 TIGD4 201798 broad.mit.edu 37 4 153690662 153690662 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:153690662A>T ENST00000304337.2 - 2 2315 c.1495T>A c.(1495-1497)Tta>Ata p.L499I NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 499 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) AGGTCTGCTAAAGAATTTTGA 0.294000 14 35 0 0 0.00244969 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38483273 38483273 + Splice_Site SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38483273T>A ENST00000381669.3 - 11 1263 c.e11-2 NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) CAACCGCTCCTGTGGGGTAGA 0.592000 39 69 0 0 0.00222228 0 0 FBN3 84467 broad.mit.edu 37 19 8176551 8176551 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8176551C>T ENST00000600128.1 - 32 4479 c.4065G>A c.(4063-4065)ggG>ggA p.G1355G FBN3_ENST00000601739.1_Silent_p.G1355G|FBN3_ENST00000270509.2_Silent_p.G1355G Q75N90 FBN3_HUMAN fibrillin 3 1355 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGAAGCCATCCCCGGCAAAGC 0.632000 15 11 0 0 0.000422831 0 0 OR1J1 347168 broad.mit.edu 37 9 125239944 125239944 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125239944G>A ENST00000259357.2 - 1 291 c.262C>T c.(262-264)Cag>Tag p.Q88* NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GCTAGGTGCTGAGTCTGCATG 0.428000 51 58 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179477638 179477638 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179477638C>T ENST00000589042.1 - 265 50034 c.49810G>A c.(49810-49812)Ggg>Agg p.G16604R TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14963R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7664R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7731R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14036R|TTN_ENST00000460472.2_Missense_Mutation_p.G7539R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14963 Fibronectin type-III 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGGAACCCCTTCCGCCACT 0.493000 8 17 0 0 0.000442599 0 0 RPN2 6185 broad.mit.edu 37 20 35827600 35827600 + Missense_Mutation SNP C C T rs147803642 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:35827600C>T ENST00000237530.6 + 4 762 c.451C>T c.(451-453)Cgt>Tgt p.R151C RPN2_ENST00000373622.5_Missense_Mutation_p.R119C NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 151 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CCTTACTGCTCGTCTCAGCAA 0.522000 12 40 0 0 0.00185496 0 0 PLSCR2 57047 broad.mit.edu 37 3 146177693 146177693 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:146177693C>T ENST00000497985.1 - 4 657 c.218G>A c.(217-219)tGg>tAg p.W73* PLSCR2_ENST00000336685.2_5'UTR NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 0 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 TGCTGGCATCCATGGTACCCC 0.463000 33 25 0 0 0.00058488 0 0 SALL1 6299 broad.mit.edu 37 16 51171359 51171359 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:51171359G>A ENST00000440970.1 - 3 3779 c.3348C>T c.(3346-3348)ttC>ttT p.F1116F SALL1_ENST00000251020.4_Silent_p.F1213F|SALL1_ENST00000541611.1_Silent_p.F36F|SALL1_ENST00000566102.1_3'UTR NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1213 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACATTTCTGGGAACTTGACGG 0.567000 11 34 0 0 0.000673444 0 0 NEBL 10529 broad.mit.edu 37 10 21115453 21115453 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:21115453C>T ENST00000377122.4 - 18 2188 c.1792G>A c.(1792-1794)Gaa>Aaa p.E598K NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 598 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCTCCCACTTCTTTCTTATAA 0.358000 9 20 0 0 0.000442599 0 0 CRB2 286204 broad.mit.edu 37 9 126133697 126133697 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:126133697G>A ENST00000373631.3 + 8 2277 c.2276G>A c.(2275-2277)tGg>tAg p.W759* CRB2_ENST00000359999.3_Nonsense_Mutation_p.W759*|CRB2_ENST00000373629.2_Nonsense_Mutation_p.W427* NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 759 Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 AGCCAGCCCTGGGGTGGGCCC 0.667000 25 97 0 0 0.000720815 0 0 DCHS1 8642 broad.mit.edu 37 11 6650991 6650991 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:6650991G>A ENST00000299441.3 - 11 5358 c.4947C>T c.(4945-4947)ttC>ttT p.F1649F NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1649 Cadherin 15. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) CCTGCTGCTGGAAAGTAGGCG 0.642000 14 16 0 0 0.000308642 0 0 SLC2A14 144195 broad.mit.edu 37 12 7980222 7980222 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7980222C>T ENST00000543909.1 - 12 1561 c.802G>A c.(802-804)Gat>Aat p.D268N SLC2A14_ENST00000340749.5_Missense_Mutation_p.D245N|SLC2A14_ENST00000542546.1_Missense_Mutation_p.D159N|SLC2A14_ENST00000535295.1_Missense_Mutation_p.D159N|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.D245N|SLC2A14_ENST00000539924.1_Missense_Mutation_p.D283N|SLC2A14_ENST00000396589.2_Missense_Mutation_p.D268N Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 268 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GCACTCTCATCTTTCATCTCC 0.493000 14 41 0 0 0.00229938 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41742086 41742086 + Silent SNP C C T rs149401669 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:41742086C>T ENST00000352645.4 + 14 1796 c.1539C>T c.(1537-1539)acC>acT p.T513T ZC3H7B_ENST00000351589.4_Silent_p.T513T NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 529 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACGTGTGGACCGAGGAGCGGA 0.592000 181 124 0 0 0.000781405 0 0 RNASE9 390443 broad.mit.edu 37 14 21025085 21025085 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:21025085C>T ENST00000557068.1 - 4 1869 c.144G>A c.(142-144)ttG>ttA p.L48L RNASE9_ENST00000553706.1_Silent_p.L53L|RNASE9_ENST00000557209.1_Silent_p.L53L|RNASE9_ENST00000553541.1_Silent_p.L48L|RNASE9_ENST00000554964.1_Silent_p.L48L|RNASE9_ENST00000404716.3_Silent_p.L53L|RNASE9_ENST00000338904.3_Silent_p.L48L|RNASE9_ENST00000555230.1_Silent_p.L48L|RNASE9_ENST00000556208.1_Silent_p.L53L|RNASE9_ENST00000429244.2_Silent_p.L48L P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 48 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) AAAATTTTTCCAAACACTCTT 0.408000 32 20 0 0 0.00178596 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325271 150325271 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150325271C>T ENST00000328902.5 - 3 631 c.415G>A c.(415-417)Gat>Aat p.D139N GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 139 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCTGCTGATCCTCATCCGTG 0.642000 48 67 0 0 0.000781405 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7672110 7672110 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:7672110C>T ENST00000299492.4 + 22 2549 c.2161C>T c.(2161-2163)Cac>Tac p.H721Y PPFIBP2_ENST00000528883.1_Missense_Mutation_p.H609Y|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.H563Y|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.H578Y NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 721 SAM 3. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTGGTCCAACCACAGGGTGAT 0.522000 32 33 0 0 0.00283554 0 0 OR2L13 284521 broad.mit.edu 37 1 248263173 248263173 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248263173C>T ENST00000366478.2 + 3 833 c.496C>T c.(496-498)Ccc>Tcc p.P166S OR2L13_ENST00000358120.2_Missense_Mutation_p.P166S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTCATATTCCCTACTGCAG 0.458000 37 136 0 0 0.00148497 0 0 EOMES 8320 broad.mit.edu 37 3 27761771 27761771 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:27761771G>T ENST00000295743.4 - 2 1130 c.927C>A c.(925-927)ccC>ccA p.P309P EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.P309P|EOMES_ENST00000537516.1_Silent_p.P14P O95936 EOMES_HUMAN eomesodermin 309 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 AGTGGGCAGTGGGATTGAGTC 0.498000 7 145 0.000442599 0.00162127 0.000442599 1 0 TDRD6 221400 broad.mit.edu 37 6 46657589 46657589 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:46657589C>T ENST00000544460.1 + 1 1978 c.1724C>T c.(1723-1725)tCg>tTg p.S575L TDRD6_ENST00000316081.6_Missense_Mutation_p.S575L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 575 Tudor 3. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CGAGGCAATTCGGAAAATGTG 0.443000 29 59 0 0 0.001512 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316957 72316957 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:72316957C>T ENST00000340595.3 + 8 1325 c.1129C>T c.(1129-1131)Cat>Tat p.H377Y SLC4A4_ENST00000512686.1_Missense_Mutation_p.H377Y|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.H421Y|SLC4A4_ENST00000351898.6_Missense_Mutation_p.H421Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.H421Y NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 421 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GGATACGCCCCATGATGGAGG 0.438000 16 50 0 0 0.00074312 0 0 UGT2B7 7364 broad.mit.edu 37 4 69972913 69972913 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:69972913G>A ENST00000305231.7 + 4 1069 c.1023G>A c.(1021-1023)ggG>ggA p.G341G UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Silent_p.G341G NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 341 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GATTTGATGGGAATAAACCAG 0.353000 13 37 0 0 0.000308642 0 0 OR5L1 219437 broad.mit.edu 37 11 55579799 55579799 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55579799A>G ENST00000333973.2 + 1 946 c.857A>G c.(856-858)aAc>aGc p.N286S NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CCTATGCTGAACTCTGTGATC 0.438000 11 11 0 0 0.00136819 0 0 BCL9 607 broad.mit.edu 37 1 147096628 147096628 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:147096628C>T ENST00000234739.3 + 10 4889 c.4149C>T c.(4147-4149)tcC>tcT p.S1383S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1383 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TGATGATGTCCATGCAGGGCA 0.627000 T """IGH@, IGL@""" B-ALL 14 37 0 0 0.00244969 0 0 BTBD1 53339 broad.mit.edu 37 15 83718918 83718918 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:83718918C>T ENST00000261721.4 - 3 773 c.571G>A c.(571-573)Gat>Aat p.D191N BTBD1_ENST00000379403.2_Missense_Mutation_p.D191N|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 191 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) TGAGGTTCATCAAATAATCGA 0.303000 29 10 0 0 0.00178596 0 0 LTN1 26046 broad.mit.edu 37 21 30308901 30308901 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:30308901G>T ENST00000361371.4 - 26 4751 c.4601C>A c.(4600-4602)cCa>cAa p.P1534Q LTN1_ENST00000389194.2_Missense_Mutation_p.P1580Q NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1534 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GTCCTTATTTGGGACCTCAAC 0.393000 10 315 0.000673444 0.00246429 0.000673444 1 0 LAMC1 3915 broad.mit.edu 37 1 183093967 183093967 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:183093967T>G ENST00000258341.4 + 14 2860 c.2603T>G c.(2602-2604)tTt>tGt p.F868C NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 868 Laminin EGF-like 8. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAGACGGATTTTTTGGAAAT 0.453000 29 46 0 0 0.001512 0 0 MUC16 94025 broad.mit.edu 37 19 9071966 9071966 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9071966C>A ENST00000397910.4 - 3 15683 c.15480G>T c.(15478-15480)gtG>gtT p.V5160V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5162 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGATCTCCCACAGTGGTGG 0.478000 9 268 3.86212e-05 0.000141867 0.000673444 1 0 SPTBN1 6711 broad.mit.edu 37 2 54845318 54845318 + Silent SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:54845318T>C ENST00000333896.5 + 6 1097 c.712T>C c.(712-714)Ttg>Ctg p.L238L SPTBN1_ENST00000356805.4_Silent_p.L251L NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 251 Actin-binding.|CH 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CACTAAACTGTTGGACCCCGA 0.428000 17 41 0 0 0.000958276 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216247 140216247 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140216247C>T ENST00000525929.1 + 1 2279 c.2279C>T c.(2278-2280)tCt>tTt p.S760F PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S760F|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGTGTGCTCTGGGGAGGGC 0.572000 13 22 0 0 0.00136819 0 0 DLX4 1748 broad.mit.edu 37 17 48050392 48050392 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48050392C>T ENST00000411890.2 + 1 263 c.23C>T c.(22-24)cCt>cTt p.P8L DLX4_ENST00000240306.3_Intron|DLX4_ENST00000503410.1_Intron NM_001934.3 NP_001925.2 Q92988 DLX4_HUMAN distal-less homeobox 4 75 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 GTCCTACCCCCTCGCTCCCTC 0.647000 13 26 0 0 0.00185496 0 0 GRIK1 2897 broad.mit.edu 37 21 30927556 30927556 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:30927556C>T ENST00000399914.1 - 15 2900 c.2379G>A c.(2377-2379)atG>atA p.M793I GRIK1_ENST00000327783.4_Missense_Mutation_p.M808I|GRIK1_ENST00000399909.1_Missense_Mutation_p.M793I|GRIK1_ENST00000389125.3_Missense_Mutation_p.M793I|GRIK1_ENST00000399907.1_Missense_Mutation_p.M808I|GRIK1_ENST00000399913.1_Missense_Mutation_p.M808I|GRIK1_ENST00000389124.2_Missense_Mutation_p.M808I|GRIK1_ENST00000309434.7_Missense_Mutation_p.M810I|GRIK1_ENST00000535441.1_Missense_Mutation_p.M810I P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 808 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCTCTTTCATCATATGCAGCT 0.458000 37 87 0 0 0.00128727 0 0 DUSP10 11221 broad.mit.edu 37 1 221913007 221913007 + Nonsense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:221913007A>C ENST00000366899.3 - 2 318 c.80T>G c.(79-81)tTa>tGa p.L27* DUSP10_ENST00000323825.3_Intron NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 27 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) ACTAGAGTCTAAACAAAGGTT 0.542000 31 148 0 0 0.00058488 0 0 C17orf53 78995 broad.mit.edu 37 17 42226384 42226384 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:42226384C>T ENST00000319977.4 + 3 1450 c.1213C>T c.(1213-1215)Ctg>Ttg p.L405L C17orf53_ENST00000245382.6_Silent_p.L405L|C17orf53_ENST00000585683.1_Silent_p.L405L NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 405 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AGCTGGGATCCTGCCTCACCA 0.617000 11 20 0 0 0.000978159 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537542 27537542 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:27537542C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TTCCAAAGCTCAGTTCTGTGA 0.353000 40 42 0 0 0.0025221 0 0 IGSF9 57549 broad.mit.edu 37 1 159904552 159904552 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:159904552G>A ENST00000368094.1 - 7 931 c.734C>T c.(733-735)tCa>tTa p.S245L IGSF9_ENST00000361509.3_Missense_Mutation_p.S245L NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 245 Ig-like 3. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAGGCCAATGAAACATCCTG 0.567000 14 57 0 0 0.00185496 0 0 VWA5A 4013 broad.mit.edu 37 11 124012423 124012423 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124012423A>G ENST00000456829.2 + 16 2249 c.1998A>G c.(1996-1998)atA>atG p.I666M VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.I666M NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 666 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GTGGGTTGATAAGTCACAAGG 0.448000 29 30 0 0 0.000692331 0 0 CERKL 375298 broad.mit.edu 37 2 182412558 182412558 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:182412558G>A ENST00000410087.3 - 9 1250 c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S CERKL_ENST00000409440.3_Missense_Mutation_p.P366S|CERKL_ENST00000374970.2_Missense_Mutation_p.P315S|CERKL_ENST00000339098.5_Missense_Mutation_p.P410S|CERKL_ENST00000374969.2_Missense_Mutation_p.P271S|CERKL_ENST00000479558.1_5'UTR NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 410 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CCAGATTTGGGAGATCCCTGT 0.398000 35 131 0 0 0.00128727 0 0 SLC47A1 55244 broad.mit.edu 37 17 19451411 19451411 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:19451411C>T ENST00000270570.4 + 4 506 c.420C>T c.(418-420)atC>atT p.I140I SLC47A1_ENST00000436810.2_Silent_p.I117I|SLC47A1_ENST00000395585.1_Silent_p.I140I|SLC47A1_ENST00000542886.1_Silent_p.I140I|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.I140I|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000457293.1_Silent_p.I140I NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 140 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CCCAGCACATCCTGCTGCTCT 0.597000 14 9 0 0 0.000308642 0 0 AARS2 57505 broad.mit.edu 37 6 44271982 44271982 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:44271982G>A ENST00000244571.4 - 14 1945 c.1943C>T c.(1942-1944)cCt>cTt p.P648L TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 648 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CTCTGTGCCAGGGCCCAGGGT 0.607000 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 17 0 0 0.00121646 0 0 CNTN3 5067 broad.mit.edu 37 3 74344349 74344349 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:74344349G>A ENST00000263665.6 - 18 2467 c.2440C>T c.(2440-2442)Cta>Tta p.L814L NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 814 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GAGGAAGATAGGCTATTTGCA 0.378000 19 77 0 0 0.00188189 0 0 ADAM19 8728 broad.mit.edu 37 5 156929909 156929909 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:156929909G>A ENST00000257527.4 - 12 1288 c.1210C>T c.(1210-1212)Ctc>Ttc p.L404F ADAM19_ENST00000430702.2_Missense_Mutation_p.L137F|ADAM19_ENST00000517905.1_Missense_Mutation_p.L404F|ADAM19_ENST00000394020.1_Missense_Mutation_p.L406F NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 404 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGTTGGAGAGACACATTCCA 0.547000 26 55 0 0 0.000878237 0 0 CEACAM6 4680 broad.mit.edu 37 19 42259569 42259569 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42259569C>T ENST00000199764.6 + 1 241 c.23C>T c.(22-24)cCc>cTc p.P8L CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 8 cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) TCAGCCCCTCCCTGCAGATTG 0.607000 22 61 0 0 0.00047179 0 0 TTN 7273 broad.mit.edu 37 2 179648473 179648473 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179648473G>A ENST00000589042.1 - 17 3039 c.2815C>T c.(2815-2817)Cct>Tct p.P939S TTN_ENST00000360870.5_Missense_Mutation_p.P939S|TTN_ENST00000591111.1_Missense_Mutation_p.P939S|TTN_ENST00000359218.5_Missense_Mutation_p.P893S|TTN_ENST00000342175.6_Missense_Mutation_p.P893S|TTN_ENST00000342992.6_Missense_Mutation_p.P939S|TTN_ENST00000460472.2_Missense_Mutation_p.P893S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 939 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAGTAACAGGAATTTCAACA 0.348000 17 72 0 0 0.00121646 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003225 23003225 + Missense_Mutation SNP G G A rs115978162 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:23003225G>A ENST00000312584.3 - 5 786 c.692C>T c.(691-693)tCa>tTa p.S231L NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 231 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CTTCCGACATGAAAAGCCAAC 0.512000 15 20 0 0 0.000308642 0 0 ASTN1 460 broad.mit.edu 37 1 176903372 176903372 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:176903372C>T ENST00000367654.2 - 16 2624 c.2611G>A c.(2611-2613)Ggc>Agc p.G871S ASTN1_ENST00000361833.2_Missense_Mutation_p.G863S|ASTN1_ENST00000424564.2_Missense_Mutation_p.G863S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G863S O14525 ASTN1_HUMAN astrotactin 1 871 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCTCAAAGCCGTAGATAGCT 0.527000 36 23 0 0 0.00058488 0 0 ROS1 6098 broad.mit.edu 37 6 117725504 117725504 + Missense_Mutation SNP C C T rs34245787 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:117725504C>T ENST00000368508.3 - 5 575 c.377G>A c.(376-378)gGa>gAa p.G126E GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G135E NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 126 Fibronectin type-III 1. G -> V (in dbSNP:rs34245787). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTATTTTACTCCAGAGAAGTT 0.428000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 25 20 0 0 0.00278032 0 0 REPS2 9185 broad.mit.edu 37 X 17065603 17065603 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:17065603C>T ENST00000357277.3 + 6 1076 c.905C>T c.(904-906)tCa>tTa p.S302L REPS2_ENST00000380064.4_Missense_Mutation_p.S162L|REPS2_ENST00000303843.7_Missense_Mutation_p.S301L NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 302 EH 2. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) TCTTTCATTTCAGGTAAGAAT 0.483000 65 3 0 0 0.000781405 0 0 PASK 23178 broad.mit.edu 37 2 242080004 242080004 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:242080004G>A ENST00000403638.3 - 3 452 c.361C>T c.(361-363)Cct>Tct p.P121S PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.P121S|PASK_ENST00000234040.4_Missense_Mutation_p.P121S|PASK_ENST00000405260.1_Missense_Mutation_p.P121S NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 121 PAS 1. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGAAGCAGAGGTGAGGACCAC 0.612000 11 42 0 0 0.00185496 0 0 KCNK10 54207 broad.mit.edu 37 14 88652317 88652317 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:88652317G>A ENST00000340700.5 - 7 1630 c.1179C>T c.(1177-1179)tcC>tcT p.S393S KCNK10_ENST00000319231.5_Silent_p.S398S|KCNK10_ENST00000312350.5_Silent_p.S398S NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 393 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GCTTCTCGGGGGACAGCATGT 0.662000 24 74 0 0 0.000720815 0 0 MYO5B 4645 broad.mit.edu 37 18 47431112 47431112 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:47431112C>T ENST00000285039.7 - 20 2800 c.2501G>A c.(2500-2502)aGg>aAg p.R834K NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 834 Arg-rich.|IQ 3. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCTGCGGACCCTCTGGTAGGC 0.637000 15 107 0 0 0.000566183 0 0 SYT8 90019 broad.mit.edu 37 11 1858068 1858068 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1858068G>A ENST00000341958.3 + 6 1069 c.767G>A c.(766-768)cGa>cAa p.R256Q SYT8_ENST00000381968.3_Missense_Mutation_p.R270Q|SYT8_ENST00000535046.1_3'UTR Q8NBV8 SYT8_HUMAN synaptotagmin VIII 270 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGGAGGCTCGAGGCCTGCGT 0.687000 11 9 0 0 0.000978159 0 0 C12orf52 84934 broad.mit.edu 37 12 113629232 113629232 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113629232C>T ENST00000548278.1 + 4 1112 c.420C>T c.(418-420)ctC>ctT p.L140L C12orf52_ENST00000552495.1_Silent_p.L164L|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.L140L NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 140 Interaction with RBPJ/RBPSUH. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 TCCGTGCTCTCTTGTGGACGC 0.662000 5 12 0 0 0.000602214 0 0 IVL 3713 broad.mit.edu 37 1 152882751 152882751 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152882751G>A ENST00000368764.3 + 2 542 c.478G>A c.(478-480)Gag>Aag p.E160K IVL_ENST00000392667.2_Missense_Mutation_p.E14K P07476 INVO_HUMAN involucrin 160 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGagcagcaggaggggcacct 0.582000 7 33 0 0 0.000157383 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274210 10274210 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:10274210C>T ENST00000396573.2 - 3 368 c.59G>A c.(58-60)gGt>gAt p.G20D GRIN2A_ENST00000330684.3_Missense_Mutation_p.G20D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G20D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G20D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G20D NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 20 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGGCGCCGGACCGCGCCAGAC 0.652000 7 31 0 0 0.00198382 0 0 SLC35F3 148641 broad.mit.edu 37 1 234445036 234445036 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:234445036C>T ENST00000366618.3 + 4 943 c.798C>T c.(796-798)atC>atT p.I266I SLC35F3_ENST00000366617.3_Silent_p.I197I NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 197 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TCTCATGGATCGTTCTCAGGG 0.443000 47 29 0 0 0.000781405 0 0 CACNA1E 777 broad.mit.edu 37 1 181702848 181702848 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181702848C>T ENST00000526775.1 + 20 3332 c.3167C>T c.(3166-3168)cCc>cTc p.P1056L CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1026L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1075L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1056L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1075L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1007L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P682L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1075 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTCGCCATCCCCGACGTGGAC 0.652000 8 43 0 0 0.000274275 0 0 OR51V1 283111 broad.mit.edu 37 11 5221178 5221178 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5221178G>A ENST00000321255.1 - 1 752 c.753C>T c.(751-753)atC>atT p.I251I NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) AGATGTGGGAGATGCAGGTCT 0.483000 14 18 0 0 0.00185496 0 0 CAPN13 92291 broad.mit.edu 37 2 30966359 30966359 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:30966359G>A ENST00000295055.8 - 13 1511 c.1335C>T c.(1333-1335)ttC>ttT p.F445F CAPN13_ENST00000534090.2_Silent_p.F445F NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 445 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAGTCATGGTGAAGTTGCGGC 0.468000 62 196 0 0 0.000781405 0 0 CDH11 1009 broad.mit.edu 37 16 64984894 64984894 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:64984894C>T ENST00000394156.3 - 12 2123 c.1670G>A c.(1669-1671)cGt>cAt p.R557H CDH11_ENST00000268603.4_Missense_Mutation_p.R557H|CDH11_ENST00000566827.1_Missense_Mutation_p.R431H P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 557 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GAACCCTCCACGCCGGGCGTA 0.602000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 7 29 0 0 0.00198382 0 0 MYO5B 4645 broad.mit.edu 37 18 47455914 47455914 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:47455914C>T ENST00000285039.7 - 17 2357 c.2058G>A c.(2056-2058)acG>acA p.T686T NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 686 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGATTCGAATCGTCTCCAACA 0.537000 9 39 0 0 0.00136819 0 0 CCDC129 223075 broad.mit.edu 37 7 31692375 31692375 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:31692375G>A ENST00000319386.3 + 14 3616 c.2623G>A c.(2623-2625)Gca>Aca p.A875T CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.A931T|CCDC129_ENST00000407970.3_Missense_Mutation_p.A1023T Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 1023 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ATCAGCTTGGGCAAAGTTAGG 0.502000 48 23 0 0 0.000781405 0 0 NLRP11 204801 broad.mit.edu 37 19 56321216 56321216 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56321216G>A ENST00000443188.1 - 5 1470 c.760C>T c.(760-762)Ccc>Tcc p.P254S NLRP11_ENST00000360133.3_Missense_Mutation_p.P254S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P254S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P155S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P254S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 254 NACHT. ATP binding p.P254S(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACTGGAATGGGAACTTTCTGG 0.448000 37 41 0 0 0.000953801 0 0 LAMC3 10319 broad.mit.edu 37 9 133962954 133962954 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:133962954C>T ENST00000361069.4 + 26 4455 c.4322C>T c.(4321-4323)tCc>tTc p.S1441F LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1441 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CAACAGGCGTCCCAGCAGGTG 0.657000 14 56 0 0 0.00244969 0 0 FBN2 2201 broad.mit.edu 37 5 127674668 127674668 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:127674668G>A ENST00000508053.1 - 32 4403 c.3429C>T c.(3427-3429)ttC>ttT p.F1143F FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000508989.1_Silent_p.F1110F|FBN2_ENST00000262464.4_Silent_p.F1143F P35556 FBN2_HUMAN fibrillin 2 1143 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATAGCCTTCGAAGCACTCGC 0.502000 31 18 0 0 0.00178596 0 0 EVPLL 645027 broad.mit.edu 37 17 18284921 18284921 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:18284921G>A ENST00000399134.4 + 4 581 c.223G>A c.(223-225)Gag>Aag p.E75K RP1-37N7.1_ENST00000579352.1_RNA NM_001145127.1 NP_001138599.1 A8MZ36 EVPLL_HUMAN envoplakin-like 75 NS(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TGACAGCATCGAGCAGCTGCA 0.662000 7 10 0 0 0.000157383 0 0 TBX21 30009 broad.mit.edu 37 17 45820503 45820503 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45820503C>T ENST00000177694.1 + 3 924 c.713C>T c.(712-714)tCa>tTa p.S238L NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 238 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAGGAAGTTTCATTTGGGAAA 0.572000 40 21 0 0 0.00148497 0 0 LRRC16A 55604 broad.mit.edu 37 6 25492246 25492246 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25492246C>T ENST00000329474.6 + 15 1582 c.1214C>T c.(1213-1215)tCt>tTt p.S405F NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 405 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ACTGTCTTCTCTCACCGGTAT 0.408000 8 36 0 0 0.000274275 0 0 MYO1H 283446 broad.mit.edu 37 12 109834264 109834264 + Silent SNP G G A rs142805645 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109834264G>A ENST00000310903.5 + 4 424 c.318G>A c.(316-318)gaG>gaA p.E106E MYO1H_ENST00000431443.2_Silent_p.E106E B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TTTCTGGAGAGAGTGGGGCAG 0.488000 14 28 0 0 0.000308642 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966376 23966376 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:23966376C>T ENST00000335694.4 - 5 663 c.459G>A c.(457-459)tgG>tgA p.W153* GGTLC1_ENST00000286890.4_Nonsense_Mutation_p.W153*|GGTLC1_ENST00000278765.4_Nonsense_Mutation_p.W153* NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 153 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CCTCCACGGCCCACTTCACGT 0.612000 29 73 0 0 0.00283554 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826539 43826539 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:43826539C>T ENST00000389420.3 - 20 2795 c.2796G>A c.(2794-2796)atG>atA p.M932I ADAMTS20_ENST00000553158.1_Missense_Mutation_p.M932I|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.M86I NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 932 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGGAATACTTCATGCAATGGA 0.408000 35 80 0 0 0.00111076 0 0 OPRK1 4986 broad.mit.edu 37 8 54163366 54163366 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:54163366A>G ENST00000265572.3 - 2 529 c.232T>C c.(232-234)Tcg>Ccg p.S78P OPRK1_ENST00000520287.1_Missense_Mutation_p.S78P NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 78 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.S78T(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ATGACCAGCGAGTTGCCCACC 0.692000 4 21 0 0 0.00024832 0 0 PEAR1 375033 broad.mit.edu 37 1 156883701 156883701 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156883701C>T ENST00000338302.3 + 23 2996 c.2771C>T c.(2770-2772)cCa>cTa p.P924L PEAR1_ENST00000292357.7_Missense_Mutation_p.P924L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 924 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGTGAGAACCCATATGCCACC 0.622000 9 43 0 0 0.000442599 0 0 TRAV24 28659 broad.mit.edu 37 14 22574118 22574118 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22574118C>T ENST00000390453.1 + 0 338 TACCTCTGTGCCTTTACACAG 0.473000 11 6 0 0 0.00136819 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144865845 144865845 + Missense_Mutation SNP C C T rs148146447 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:144865845C>T ENST00000369359.4 - 38 6181 c.6143G>A c.(6142-6144)cGa>cAa p.R2048Q PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1997Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1806Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1912Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1912Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1912 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGAAGTCTTCGATTGTCTTC 0.478000 T PDGFRB MPD 108 589 0 0 0.000781405 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338312 28338312 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:28338312C>T ENST00000284987.5 - 1 520 c.399G>A c.(397-399)cgG>cgA p.R133R NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 133 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CCACTGTGCCCCGATAGAAGC 0.657000 13 21 0 0 0.00136819 0 0 PRL 5617 broad.mit.edu 37 6 22294638 22294638 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:22294638G>A ENST00000306482.1 - 2 722 c.204_splice c.e2+1 p.F68_splice RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 68 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding p.F68F(1) NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) TGGTACTTACGAATTCGCTGA 0.527000 25 83 0 0 0.00127121 0 0 PRAMEF17 391004 broad.mit.edu 37 1 13716832 13716832 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:13716832G>A ENST00000376098.4 + 2 345 c.319G>A c.(319-321)Gat>Aat p.D107N NM_001099851.1 NP_001093321.1 Q5VTA0 PRA17_HUMAN PRAME family member 17 107 kidney(1)|lung(2) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGATTTGCGGGATGTTGATGG 0.522000 22 119 0 0 0.000680045 0 0 IL18R1 8809 broad.mit.edu 37 2 103010956 103010956 + Missense_Mutation SNP C C T rs141625347 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:103010956C>T ENST00000409599.1 + 11 1495 c.1139C>T c.(1138-1140)tCt>tTt p.S380F IL18R1_ENST00000233957.1_Missense_Mutation_p.S380F Q13478 IL18R_HUMAN interleukin 18 receptor 1 380 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GCTTTTGTGTCTTACCTAAAA 0.358000 20 48 0 0 0.00121646 0 0 UNC5B 219699 broad.mit.edu 37 10 73046512 73046512 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:73046512G>A ENST00000335350.6 + 5 1035 c.619G>A c.(619-621)Gac>Aac p.D207N UNC5B_ENST00000373192.4_Missense_Mutation_p.D207N NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 207 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCTCACCATCGACCACAACCT 0.612000 47 53 0 0 0.000781405 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540786 133540786 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:133540786C>T ENST00000409261.1 - 14 3971 c.3598G>A c.(3598-3600)Gag>Aag p.E1200K NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1200K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1200 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTGTGATCTCCATGCTTGCT 0.488000 18 54 0 0 0.000566183 0 0 KRT71 112802 broad.mit.edu 37 12 52943863 52943863 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52943863C>T ENST00000267119.5 - 2 675 c.606G>A c.(604-606)ctG>ctA p.L202L NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 202 Coil 1B.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GCTCCGAGTCCAGCCTCACCC 0.587000 61 48 0 0 0.000781405 0 0 KIAA1244 57221 broad.mit.edu 37 6 138619790 138619790 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:138619790C>T ENST00000251691.4 + 22 3862 c.3696C>T c.(3694-3696)ttC>ttT p.F1232F NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1232 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGTTTCCTTCATCCATGACA 0.478000 7 12 0 0 0.000157383 0 0 GLP2R 9340 broad.mit.edu 37 17 9783831 9783831 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:9783831C>T ENST00000262441.5 + 11 1795 c.1282C>T c.(1282-1284)Cat>Tat p.H428Y GLP2R_ENST00000574745.1_Missense_Mutation_p.H248Y NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 428 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GAGCTCCTTTCATGTAAGTAG 0.403000 20 33 0 0 0.00152264 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931860 109931860 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:109931860C>T ENST00000218054.4 - 9 1143 c.947G>A c.(946-948)gGa>gAa p.G316E CHRDL1_ENST00000482160.1_Missense_Mutation_p.G237E|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G317E|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G316E|CHRDL1_ENST00000444321.2_Missense_Mutation_p.G316E|CHRDL1_ENST00000372045.1_Missense_Mutation_p.G310E|CHRDL1_ENST00000434224.1_Missense_Mutation_p.G237E NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 310 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GCAGCATTTTCCGTCTATTTT 0.443000 48 54 0 0 0.000781405 0 0 TCF3 6929 broad.mit.edu 37 19 1615672 1615672 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:1615672G>A ENST00000395423.3 - 14 1473 c.1446C>T c.(1444-1446)acC>acT p.T482T TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron P15923 TFE2_HUMAN transcription factor 3 528 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) AGTGCCGAGGGGTGGGTTGGC 0.687000 T """PBX1, HLF, TFPT""" pre B-ALL 48 36 0 0 0.000781405 0 0 MOB3C 148932 broad.mit.edu 37 1 47080744 47080744 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47080744T>C ENST00000271139.8 - 1 61 c.5A>G c.(4-6)aAg>aGg p.K2R MOB3C_ENST00000371940.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000319928.3_Intron|MOB3C_ENST00000477318.1_Intron NM_145279.4 NP_660322.2 Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 0 metal ion binding ATTTCTGCGCTTCATTTGCCA 0.522000 23 35 0 0 0.00047179 0 0 PRKAG1 5571 broad.mit.edu 37 12 49397357 49397357 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49397357G>A ENST00000548065.1 - 10 1181 c.725C>T c.(724-726)tCc>tTc p.S242F RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.S251F|PRKAG1_ENST00000547306.1_Missense_Mutation_p.S191F|PRKAG1_ENST00000395170.3_Missense_Mutation_p.S158F|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.S210F P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 242 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 ATCAAACTTGGAGTAGATGTC 0.542000 11 33 0 0 0.000978159 0 0 FAM184A 79632 broad.mit.edu 37 6 119345183 119345183 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:119345183G>A ENST00000338891.7 - 2 1398 c.955C>T c.(955-957)Ctt>Ttt p.L319F FAM184A_ENST00000352896.5_Missense_Mutation_p.L199F|FAM184A_ENST00000521531.1_Missense_Mutation_p.L319F|FAM184A_ENST00000522284.1_Missense_Mutation_p.L199F|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.L199F NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 319 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTGTCAAGAAGACTTCCAGCT 0.348000 52 70 0 0 0.000781405 0 0 CRLF2 64109 broad.mit.edu 37 X 1327758 1327758 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:1327758G>A ENST00000381567.3 - 2 122 c.123C>T c.(121-123)acC>acT p.T41T CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.T41T NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 41 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TCACCTGCACGGTTTCTAAAT 0.478000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 81 109 0 0 0.000781405 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182908376 182908376 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:182908376C>T ENST00000367547.3 - 5 1247 c.1011G>A c.(1009-1011)tgG>tgA p.W337* SHCBP1L_ENST00000423786.1_Nonsense_Mutation_p.W218*|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 409 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 AGTATTTTTTCCAGCATTCAA 0.358000 60 48 0 0 0.000781405 0 0 SALL1 6299 broad.mit.edu 37 16 51173298 51173298 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:51173298C>T ENST00000440970.1 - 2 2975 c.2544G>A c.(2542-2544)gaG>gaA p.E848E SALL1_ENST00000251020.4_Silent_p.E945E|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 945 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTGGTTTCTCCTCAATGCTGG 0.552000 10 25 0 0 0.00136819 0 0 DMBT1 1755 broad.mit.edu 37 10 124358479 124358479 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124358479G>A ENST00000338354.3 + 26 3252 c.3146G>A c.(3145-3147)gGt>gAt p.G1049D DMBT1_ENST00000368909.3_Missense_Mutation_p.G1049D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1039D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G550D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G550D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1039D Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1049 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCCCGGTTTGGTCAGGGCTCA 0.597000 98 104 0 0 0.000781405 0 0 SLC44A3 126969 broad.mit.edu 37 1 95307626 95307626 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:95307626A>C ENST00000271227.6 + 8 933 c.831A>C c.(829-831)gaA>gaC p.E277D SLC44A3_ENST00000532427.1_Missense_Mutation_p.E197D|SLC44A3_ENST00000446120.2_Missense_Mutation_p.E241D|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.E245D|SLC44A3_ENST00000467909.1_Missense_Mutation_p.E229D|SLC44A3_ENST00000527077.1_Missense_Mutation_p.E209D|RP11-465K1.2_ENST00000422162.1_RNA NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 277 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TGGACACAGAAAGGGAAAATA 0.468000 45 252 0 0 0.00285205 0 0 OR10H3 26532 broad.mit.edu 37 19 15852289 15852289 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15852289C>T ENST00000305892.1 + 1 87 c.87C>T c.(85-87)ttC>ttT p.F29F NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTGTCTTGTTCCTGCTGTACC 0.493000 60 185 0 0 0.000781405 0 0 IPO8 10526 broad.mit.edu 37 12 30833521 30833521 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:30833521G>A ENST00000256079.4 - 5 872 c.534C>T c.(532-534)ttC>ttT p.F178F NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 178 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TACGAGGCAGGAATATCTGCA 0.353000 35 88 0 0 0.00148497 0 0 DMBT1 1755 broad.mit.edu 37 10 124390604 124390604 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124390604G>A ENST00000338354.3 + 46 5872 c.5766G>A c.(5764-5766)gtG>gtA p.V1922V DMBT1_ENST00000368909.3_Silent_p.V1922V|DMBT1_ENST00000368955.3_Silent_p.V1912V|DMBT1_ENST00000359586.6_Silent_p.V642V|DMBT1_ENST00000368956.2_Silent_p.V1294V|DMBT1_ENST00000330163.4_Silent_p.V1294V|DMBT1_ENST00000344338.3_Silent_p.V1912V Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1922 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AAGCTGAGGTGGTCTGCAGAC 0.532000 42 19 0 0 0.0025221 0 0 CD86 942 broad.mit.edu 37 3 121822506 121822506 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121822506G>A ENST00000330540.2 + 3 328 c.212G>A c.(211-213)gGc>gAc p.G71D CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.G65D|CD86_ENST00000264468.5_Intron NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 71 Ig-like V-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GTATACTTAGGCAAAGAGAAA 0.433000 18 41 0 0 0.00121646 0 0 PKHD1 5314 broad.mit.edu 37 6 51889718 51889718 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51889718C>A ENST00000371117.3 - 32 5165 c.4890G>T c.(4888-4890)ggG>ggT p.G1630G PKHD1_ENST00000340994.4_Silent_p.G1630G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1630 IPT/TIG 11. 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 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) CAGAGCCATTCCCTGTGGGAA 0.488000 34 39 1.836e-18 6.78449e-18 0.000692331 1 0 ADCYAP1R1 117 broad.mit.edu 37 7 31102932 31102932 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:31102932G>A ENST00000304166.4 + 2 340 c.e2+1 ADCYAP1R1_ENST00000396211.2_Splice_Site|ADCYAP1R1_ENST00000409363.1_Splice_Site|ADCYAP1R1_ENST00000409489.1_Splice_Site NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GCTGCCTATGGTAAGGGCCCA 0.592000 10 79 0 0 0.000673444 0 0 DGKE 8526 broad.mit.edu 37 17 54912440 54912440 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:54912440A>C ENST00000284061.3 + 2 464 c.284A>C c.(283-285)gAc>gCc p.D95A DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.D95A NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 95 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) CTCCGCGTGGACGAGGGCTGC 0.637000 14 21 0 0 0.00185496 0 0 PCSK5 5125 broad.mit.edu 37 9 78973651 78973651 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78973651G>A ENST00000545128.1 + 37 5934 c.5396G>A c.(5395-5397)aGc>aAc p.S1799N NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 616 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TATAGAGAGAGCACCAGCTTT 0.512000 78 112 0 0 0.000781405 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799065 16799065 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:16799065C>T ENST00000187762.2 + 6 874 c.783C>T c.(781-783)aaC>aaT p.N261N NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 261 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 ACCACGACAACCATGGTGGGT 0.637000 33 91 0 0 0.00178596 0 0 POPDC2 64091 broad.mit.edu 37 3 119367193 119367193 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:119367193G>A ENST00000493094.1 - 3 1382 c.923C>T c.(922-924)cCc>cTc p.P308L POPDC2_ENST00000264231.3_Missense_Mutation_p.P308L|POPDC2_ENST00000468801.1_Missense_Mutation_p.P308L|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Missense_Mutation_p.P308L Q9HBU9 POPD2_HUMAN popeye domain containing 2 308 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) AGAACAAGGGGGTGTTTGCTG 0.607000 32 17 0 0 0.000814825 0 0 ARGFX 503582 broad.mit.edu 37 3 121289614 121289614 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121289614G>A ENST00000334384.3 + 1 64 c.54G>A c.(52-54)agG>agA p.R18R NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 18 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) TCATCAATAGGAATTATTCCA 0.463000 17 56 0 0 0.000958276 0 0 FOXP2 93986 broad.mit.edu 37 7 114329980 114329980 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:114329980G>A ENST00000408937.3 + 18 2596 c.2222G>A c.(2221-2223)tGa>tAa p.*741* FOXP2_ENST00000393489.3_Silent_p.*624*|FOXP2_ENST00000393494.2_Silent_p.*716*|FOXP2_ENST00000350908.4_Silent_p.*716*|FOXP2_ENST00000393491.3_Silent_p.*531*|FOXP2_ENST00000393498.2_Silent_p.*695*|FOXP2_ENST00000403559.4_Silent_p.*733* NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 0 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GATCTGGAATGAGAACTGACT 0.403000 9 33 0 0 0.000673444 0 0 CD163L1 283316 broad.mit.edu 37 12 7559179 7559179 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7559179T>A ENST00000313599.3 - 5 1093 c.1036A>T c.(1036-1038)Acc>Tcc p.T346S CD163L1_ENST00000416109.2_Missense_Mutation_p.T356S|CD163L1_ENST00000396630.1_Missense_Mutation_p.T346S Q9NR16 C163B_HUMAN CD163 molecule-like 1 346 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAATTGACGGTTCCGGAATGT 0.423000 9 40 0 0 0.000978159 0 0 PRDM8 56978 broad.mit.edu 37 4 81124550 81124550 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:81124550G>A ENST00000339711.4 + 10 3165 c.1934G>A c.(1933-1935)aGg>aAg p.R645K PRDM8_ENST00000415738.2_Missense_Mutation_p.R645K|PRDM8_ENST00000504452.1_Missense_Mutation_p.R645K NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 TACCATATGAGGTCGCACCAC 0.602000 7 17 0 0 0.000157383 0 0 ZNF19 7567 broad.mit.edu 37 16 71510036 71510036 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:71510036G>A ENST00000288177.5 - 6 669 c.414C>T c.(412-414)caC>caT p.H138H ZNF19_ENST00000565637.1_Silent_p.H96H|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Silent_p.H138H|ZNF19_ENST00000565100.2_Silent_p.H68H NM_006961.3 NP_008892.2 P17023 ZNF19_HUMAN zinc finger protein 19 138 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) GGATGTCCTGGTGCTTTTCCA 0.458000 14 28 0 0 0.00185496 0 0 XIRP1 165904 broad.mit.edu 37 3 39225952 39225952 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:39225952G>A ENST00000340369.3 - 2 5213 c.4985C>T c.(4984-4986)tCc>tTc p.S1662F XIRP1_ENST00000421646.1_Missense_Mutation_p.S345F|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1662 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ATCTCGGCTGGAAGGTAAAAC 0.542000 32 99 0 0 0.00283554 0 0 DOCK3 1795 broad.mit.edu 37 3 51297624 51297624 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:51297624G>A ENST00000266037.9 + 23 2245 c.2222G>A c.(2221-2223)cGg>cAg p.R741Q NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 741 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GTACAGTCACGGATCCTGTAC 0.458000 5 36 0 0 0.00116845 0 0 CDH11 1009 broad.mit.edu 37 16 64981796 64981796 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:64981796G>A ENST00000268603.4 - 13 2716 c.2101C>T c.(2101-2103)Cag>Tag p.Q701* CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Nonsense_Mutation_p.Q575* NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 701 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGCATGTACTGATACTCAGGT 0.527000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 31 72 0 0 0.0024448 0 0 PSPC1 55269 broad.mit.edu 37 13 20346608 20346608 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:20346608G>A ENST00000338910.4 - 2 607 c.448C>T c.(448-450)Cgc>Tgc p.R150C NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 150 RRM 1.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GTAGCGAAGCGAATCCGTAGA 0.453000 24 37 0 0 0.00278032 0 0 BAI3 577 broad.mit.edu 37 6 69348981 69348981 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:69348981C>T ENST00000370598.1 + 3 1235 c.414C>T c.(412-414)ttC>ttT p.F138F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 138 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CAACTAATTTCCCAGGATTAC 0.333000 10 23 0 0 0.000978159 0 0 MX2 4600 broad.mit.edu 37 21 42767678 42767678 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:42767678G>A ENST00000330714.3 + 7 1220 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 346 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AACCAAGAAAGAAATTACATT 0.488000 8 47 0 0 0.00136819 0 0 SRCAP 10847 broad.mit.edu 37 16 30724869 30724869 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:30724869C>T ENST00000262518.4 + 16 2715 c.2330C>T c.(2329-2331)cCc>cTc p.P777L SRCAP_ENST00000344771.4_Missense_Mutation_p.P777L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P777L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 777 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACAGGAACTCCCTTGCAGAAC 0.512000 31 68 0 0 0.000953801 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378867 113378867 + Silent SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:113378867A>T ENST00000316407.4 - 7 2072 c.1662T>A c.(1660-1662)atT>atA p.I554I KIAA2018_ENST00000478658.1_Silent_p.I554I|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 554 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GTGGCTGAAGAATTATAACAT 0.433000 25 52 0 0 0.00106085 0 0 ZNF304 57343 broad.mit.edu 37 19 57868827 57868827 + Silent SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:57868827T>C ENST00000391705.3 + 4 1874 c.1590T>C c.(1588-1590)ccT>ccC p.P530P ZNF304_ENST00000443917.2_Silent_p.P577P|ZNF304_ENST00000598744.1_Silent_p.P488P|ZNF304_ENST00000282286.5_Silent_p.P530P NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GAGCAAAGCCTTATGAGTGCA 0.453000 11 16 0 0 0.00185496 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668201 94668201 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:94668201G>A ENST00000260526.6 - 11 1224 c.1042C>T c.(1042-1044)Cgt>Tgt p.R348C ARHGAP29_ENST00000370217.3_Missense_Mutation_p.R348C NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 348 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCTTCTGCACGAAACATGGAA 0.408000 107 126 0 0 0.000781405 0 0 IMPG2 50939 broad.mit.edu 37 3 101023106 101023106 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:101023106G>A ENST00000193391.7 - 3 572 c.385C>T c.(385-387)Cct>Tct p.P129S NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 129 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCACGCCCAGGAAGTCGATCC 0.413000 12 23 0 0 0.00185496 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2568691 2568691 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:2568691C>T ENST00000397195.5 + 3 509 c.58C>T c.(58-60)Cgt>Tgt p.R20C NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 20 Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).|LisH.|Required for self-association and interaction with PAFAH1B2 and PAFAH1B3 (By similarity). acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 AGATTATCTTCGTTCAAATGG 0.274000 21 35 0 0 0.000720815 0 0 ANKAR 150709 broad.mit.edu 37 2 190585403 190585403 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:190585403A>G ENST00000520309.1 + 12 2613 c.2525A>G c.(2524-2526)aAt>aGt p.N842S ANKAR_ENST00000281412.6_Missense_Mutation_p.N606S|ANKAR_ENST00000313581.4_Missense_Mutation_p.N842S|ANKAR_ENST00000431575.2_Missense_Mutation_p.N771S|ANKAR_ENST00000438402.2_Missense_Mutation_p.N842S NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 842 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GTGCTAGTAAATGTAATGAAC 0.299000 56 232 0 0 0.000781405 0 0 PAPPA 5069 broad.mit.edu 37 9 119115011 119115011 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:119115011G>A ENST00000328252.3 + 16 4360 c.3991G>A c.(3991-3993)Gag>Aag p.E1331K PAPPA_ENST00000534838.1_Missense_Mutation_p.E369K NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1331 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GACCTGCATGGAGGATGGGCT 0.587000 25 56 0 0 0.00106085 0 0 MIP 4284 broad.mit.edu 37 12 56848292 56848292 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56848292G>A ENST00000257979.4 - 1 134 c.106C>T c.(106-108)Cct>Tct p.P36S MIP_ENST00000555551.1_Intron NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 36 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 AGGGGTCCAGGAGCCCAGCGC 0.582000 22 50 0 0 0.00047179 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6213229 6213229 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6213229C>T ENST00000400104.3 - 12 1100 c.900G>A c.(898-900)atG>atA p.M300I L3MBTL4_ENST00000317931.7_Missense_Mutation_p.M300I|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.M113I|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.M300I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.M300I Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 300 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTTCAAGTTTCATATTTGGCA 0.318000 26 47 0 0 0.00209593 0 0 ACSS3 79611 broad.mit.edu 37 12 81545701 81545701 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81545701G>A ENST00000548058.1 + 6 1910 c.1000G>A c.(1000-1002)Gag>Aag p.E334K ACSS3_ENST00000261206.3_Missense_Mutation_p.E333K|ACSS3_ENST00000548324.1_Missense_Mutation_p.E16K Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 334 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TCAACCCGGAGAGGTAATCGT 0.388000 31 12 0 0 0.00178596 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215689 50215689 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:50215689G>A ENST00000284509.6 - 17 1786 c.1645C>T c.(1645-1647)Cga>Tga p.R549* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.R549* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 549 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCTGGGTTTCGAACTGAAAAG 0.378000 7 20 0 0 0.000274275 0 0 FAM21C 253725 broad.mit.edu 37 10 46254773 46254773 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46254773C>T ENST00000336378.4 + 17 1677 c.1559C>T c.(1558-1560)tCt>tTt p.S520F FAM21C_ENST00000540872.1_Missense_Mutation_p.S520F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S520F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S496F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S464F NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 520 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GTTACCTTATCTTACAGCAAA 0.403000 20 38 0 0 0.00278032 0 0 CCDC8 83987 broad.mit.edu 37 19 46915887 46915887 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:46915887T>C ENST00000307522.3 - 1 954 c.181A>G c.(181-183)Aag>Gag p.K61E NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 61 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) ggggtgctcttctccatgatg 0.657000 17 55 0 0 0.00121646 0 0 HMCN1 83872 broad.mit.edu 37 1 186043883 186043883 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186043883C>T ENST00000271588.4 + 53 8379 c.8150C>T c.(8149-8151)tCc>tTc p.S2717F HMCN1_ENST00000367492.2_Missense_Mutation_p.S2717F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2717 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCCCTTAAATCCGATGATCAT 0.353000 13 27 0 0 0.000308642 0 0 SVEP1 79987 broad.mit.edu 37 9 113231282 113231282 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:113231282T>G ENST00000401783.2 - 17 3434 c.3098A>C c.(3097-3099)aAg>aCg p.K1033T SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.K1010T|SVEP1_ENST00000302728.8_Missense_Mutation_p.K1033T NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1033 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGGGCAAAGCTTGCACTCAAG 0.443000 13 66 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179659879 179659879 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179659879G>A ENST00000589042.1 - 7 1239 c.1015C>T c.(1015-1017)Cct>Tct p.P339S TTN_ENST00000360870.5_Missense_Mutation_p.P339S|TTN_ENST00000591111.1_Missense_Mutation_p.P339S|TTN_ENST00000359218.5_Missense_Mutation_p.P339S|TTN_ENST00000342175.6_Missense_Mutation_p.P339S|TTN_ENST00000342992.6_Missense_Mutation_p.P339S|TTN_ENST00000460472.2_Missense_Mutation_p.P339S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 339 ZIS1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCACTTCAGGACCTGTGGCC 0.562000 43 52 0 0 0.00285205 0 0 GBP1P1 400759 broad.mit.edu 37 1 89890038 89890038 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:89890038C>T ENST00000513638.1 + 0 779 NR_003133.2 CTTGAGGTTTCTGTTTTTCTG 0.488000 37 134 0 0 0.000814825 0 0 FBXO33 254170 broad.mit.edu 37 14 39868916 39868916 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:39868916G>A ENST00000298097.7 - 4 1809 c.1472C>T c.(1471-1473)aCc>aTc p.T491I FBXO33_ENST00000554190.1_3'UTR NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 491 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) GCTTTCTTCGGTGACTTCAAG 0.483000 9 18 0 0 0.000442599 0 0 CCDC65 85478 broad.mit.edu 37 12 49315121 49315121 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49315121G>A ENST00000266984.5 + 8 1577 c.1350G>A c.(1348-1350)ctG>ctA p.L450L ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L450L Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 450 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 ACGAAGTGCTGAGCCAGCTCA 0.493000 24 42 0 0 0.00047179 0 0 SALL1 6299 broad.mit.edu 37 16 51175853 51175853 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:51175853G>A ENST00000251020.4 - 2 313 c.280C>T c.(280-282)Cct>Tct p.P94S SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 94 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGTTCATCAGGATTATCAGGA 0.448000 33 76 0 0 0.000692331 0 0 MUC16 94025 broad.mit.edu 37 19 9068288 9068288 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9068288G>A ENST00000397910.4 - 3 19361 c.19158C>T c.(19156-19158)gtC>gtT p.V6386V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6388 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTTGTCAAAGACCGTGCTTG 0.463000 11 46 0 0 0.000673444 0 0 VAV3 10451 broad.mit.edu 37 1 108417609 108417609 + Missense_Mutation SNP G G A rs151122345 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:108417609G>A ENST00000370056.4 - 2 509 c.235C>T c.(235-237)Ctc>Ttc p.L79F VAV3_ENST00000527011.1_Missense_Mutation_p.L79F|VAV3_ENST00000371846.4_Missense_Mutation_p.L14F NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 79 CH. 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 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) CAGGCCGTGAGAAATGTCCTT 0.383000 52 26 0 0 0.000781405 0 0 EPHA10 284656 broad.mit.edu 37 1 38185215 38185215 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:38185215T>C ENST00000373048.4 - 15 2626 c.2627A>G c.(2626-2628)cAc>cGc p.H876R EPHA10_ENST00000330210.7_Missense_Mutation_p.H371R|EPHA10_ENST00000427468.2_Missense_Mutation_p.H876R|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 876 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CATTAGTCGGTGCAGAAGGTT 0.627000 47 39 0 0 0.000781405 0 0 CHD4 1108 broad.mit.edu 37 12 6710877 6710877 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6710877T>A ENST00000309577.6 - 5 657 c.494A>T c.(493-495)cAc>cTc p.H165L CHD4_ENST00000544484.1_Missense_Mutation_p.H162L|CHD4_ENST00000544040.1_Missense_Mutation_p.H158L|CHD4_ENST00000357008.2_Missense_Mutation_p.H165L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 165 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 central_nervous_system(2) 2 TGAGAACACGTGGTCAATGTC 0.512000 79 213 0 0 0.000781405 0 0 ANO5 203859 broad.mit.edu 37 11 22276938 22276938 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:22276938G>A ENST00000324559.8 + 13 1519 c.1202G>A c.(1201-1203)tGg>tAg p.W401* NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 401 chloride channel complex|endoplasmic reticulum membrane chloride channel activity 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 TTGGAGTTTTGGAAACAACGA 0.338000 25 33 0 0 0.000720815 0 0 IL9R 3581 broad.mit.edu 37 X 155233513 155233513 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:155233513G>A ENST00000540897.1 + 5 598 c.530G>A c.(529-531)gGa>gAa p.G177E IL9R_ENST00000244174.5_Silent_p.R142R|IL9R_ENST00000424344.3_Silent_p.R121R|IL9R_ENST00000369423.2_Missense_Mutation_p.G187E NM_176786.1 NP_789743.2 Q01113 IL9R_HUMAN interleukin 9 receptor 151 Fibronectin type-III. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACCTGCCCCGGAGACACGGTG 0.617000 24 19 0 0 0.001512 0 0 NOL4 8715 broad.mit.edu 37 18 31538286 31538286 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:31538286C>T ENST00000261592.5 - 7 1450 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K NOL4_ENST00000538587.1_Missense_Mutation_p.E311K|NOL4_ENST00000269185.4_Missense_Mutation_p.E271K|NOL4_ENST00000535384.1_Missense_Mutation_p.E100K|NOL4_ENST00000535475.1_Missense_Mutation_p.E230K|NOL4_ENST00000589544.1_Missense_Mutation_p.E385K NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 385 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGGTCATCTTCGTCCTCATCT 0.502000 62 104 0 0 0.000781405 0 0 PAK7 57144 broad.mit.edu 37 20 9538276 9538276 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9538276G>A ENST00000378429.3 - 8 2268 c.1722C>T c.(1720-1722)atC>atT p.I574I PAK7_ENST00000378423.1_Silent_p.I574I|PAK7_ENST00000353224.5_Silent_p.I574I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 574 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity 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) TTGTCAGGAGGATGGAGTCAC 0.453000 15 14 0 0 0.000308642 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091442 17091442 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:17091442G>A ENST00000443236.1 - 14 1622 c.1591C>T c.(1591-1593)Ctg>Ttg p.L531L CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 484 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TCGTAGTACAGGGTAAAGTTG 0.592000 45 55 0 0 0.000781405 0 0 APOB 338 broad.mit.edu 37 2 21230280 21230280 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21230280C>T ENST00000233242.1 - 26 9587 c.9460G>A c.(9460-9462)Gaa>Aaa p.E3154K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3154 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 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) CCTGTTTTTTCCCATAGAGAG 0.348000 93 346 0 0 0.000781405 0 0 CFTR 1080 broad.mit.edu 37 7 117175322 117175322 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:117175322C>T ENST00000003084.6 + 6 732 c.600C>T c.(598-600)ttC>ttT p.F200F CFTR_ENST00000454343.1_Silent_p.F200F NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 200 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGGCACATTTCGTGTGGATCG 0.453000 Cystic Fibrosis 56 198 0 0 0.000781405 0 0 PGBD5 79605 broad.mit.edu 37 1 230486707 230486707 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:230486707G>A ENST00000321327.2 - 5 980 c.981C>T c.(979-981)atC>atT p.I327I PGBD5_ENST00000525115.1_Silent_p.I228I|PGBD5_ENST00000391860.1_Silent_p.I182I Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 228 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GGCTCACCTGGATGATGAAGC 0.557000 28 97 0 0 0.00106085 0 0 RP11-704M14.1 0 broad.mit.edu 37 4 70080499 70080499 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:70080499G>A ENST00000505646.1 + 0 663 CTTATATACAGAGATAAATCA 0.363000 10 13 0 0 0.000673444 0 0 SALL1 6299 broad.mit.edu 37 16 51174598 51174598 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:51174598G>A ENST00000440970.1 - 2 1675 c.1244C>T c.(1243-1245)cCt>cTt p.P415L SALL1_ENST00000251020.4_Missense_Mutation_p.P512L|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 512 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTCAGGCACAGGATAGGGGTT 0.512000 30 60 0 0 0.000692331 0 0 PCSK5 5125 broad.mit.edu 37 9 78848417 78848417 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78848417G>A ENST00000545128.1 + 22 3309 c.2771G>A c.(2770-2772)tGg>tAg p.W924* NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 625 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGCCCCTCATGGAAATTTGAA 0.502000 14 48 0 0 0.000422831 0 0 RANBP2 5903 broad.mit.edu 37 2 109380827 109380827 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:109380827C>T ENST00000283195.6 + 20 3958 c.3832C>T c.(3832-3834)Cca>Tca p.P1278S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1278 RanBD1 1. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GTTGCCAAAACCAGAACAACT 0.393000 8 82 0 0 0.000442599 0 0 PPFIA2 8499 broad.mit.edu 37 12 81751897 81751897 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81751897C>T ENST00000550584.2 - 15 2032 c.1737G>A c.(1735-1737)agG>agA p.R579R PPFIA2_ENST00000549396.1_Silent_p.R579R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.R426R|PPFIA2_ENST00000541570.2_Silent_p.R146R|PPFIA2_ENST00000548586.1_Silent_p.R579R|PPFIA2_ENST00000549325.1_Silent_p.R561R|PPFIA2_ENST00000443686.3_Silent_p.R480R|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Silent_p.R579R|PPFIA2_ENST00000407050.4_Silent_p.R505R|PPFIA2_ENST00000333447.7_Silent_p.R561R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 505 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TGCGGCCTCTCCTTGGTCTTC 0.408000 5 6 0 0 0.00116845 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677759 25677759 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:25677759C>T ENST00000382051.3 + 13 1511 c.1461C>T c.(1459-1461)atC>atT p.I487I SLC34A2_ENST00000504570.1_Silent_p.I486I|SLC34A2_ENST00000503434.1_Silent_p.I486I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 487 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TGTTGCAGATCGCCCTGTGCC 0.602000 T ROS1 NSCLC 7 14 0 0 0.000157383 0 0 IL31 386653 broad.mit.edu 37 12 122658458 122658458 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122658458C>T ENST00000377035.1 - 2 124 c.98G>A c.(97-99)cGa>cAa p.R33Q NM_001014336.1 NP_001014358.1 Q6EBC2 IL31_HUMAN interleukin 31 33 extracellular space cytokine activity central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) ATCACTTGGTCGTAGTAAACG 0.502000 51 29 0 0 0.000781405 0 0 GALNT14 79623 broad.mit.edu 37 2 31135209 31135209 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:31135209C>T ENST00000349752.5 - 14 2020 c.e14-1 GALNT14_ENST00000324589.5_Splice_Site|GALNT14_ENST00000420311.2_Splice_Site|GALNT14_ENST00000406653.1_Splice_Site|GALNT14_ENST00000356174.3_Splice_Site|GALNT14_ENST00000486564.1_Splice_Site NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) AGGCCCATACCTGGGGAGAAA 0.547000 16 83 0 0 0.000958276 0 0 LMBR1 64327 broad.mit.edu 37 7 156619310 156619310 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:156619310G>A ENST00000353442.4 - 4 544 c.308C>T c.(307-309)tCc>tTc p.S103F LMBR1_ENST00000540390.1_Missense_Mutation_p.S82F|LMBR1_ENST00000354505.4_Missense_Mutation_p.S103F NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 103 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) ATGAATCAGGGAGCCATTTAG 0.323000 3 8 0 0 6.4e-05 0 0 DNAH7 56171 broad.mit.edu 37 2 196741308 196741308 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196741308C>T ENST00000312428.6 - 37 6177 c.6077G>A c.(6076-6078)aGa>aAa p.R2026K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2026 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCCCTTTCTTCTCTTGTCCAA 0.398000 35 44 0 0 0.00128727 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110510883 110510883 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:110510883G>A ENST00000378402.5 + 67 10815 c.e67-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGGTAAAAGGTGGGAGAAG 0.398000 HNSCC(38;0.096) 22 10 0 0 0.00047179 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687801 27687801 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:27687801C>T ENST00000438700.3 - 4 1843 c.1726G>A c.(1726-1728)Gaa>Aaa p.E576K NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 576 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GTTCCATGTTCATCTGGGACA 0.383000 15 9 0 0 0.00244969 0 0 OR2W5 441932 broad.mit.edu 37 1 247655219 247655219 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:247655219C>T ENST00000522351.1 + 0 850 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-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) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGAAGCCGGCCAACAGCTACT 0.522000 63 43 0 0 0.000781405 0 0 IGF2R 3482 broad.mit.edu 37 6 160494835 160494835 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:160494835C>T ENST00000356956.1 + 35 5142 c.4994C>T c.(4993-4995)cCc>cTc p.P1665L NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1665 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GACTTGTCTCCCCTTATTCAT 0.418000 17 24 0 0 0.00188189 0 0 BSND 7809 broad.mit.edu 37 1 55474182 55474182 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:55474182G>A ENST00000371265.4 + 4 1098 c.844G>A c.(844-846)Gac>Aac p.D282N NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 282 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 GGAGGCTTCGGACACAGGTGG 0.597000 36 23 0 0 0.00283554 0 0 FAM135B 51059 broad.mit.edu 37 8 139164862 139164862 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:139164862C>T ENST00000395297.1 - 13 2026 c.1856G>A c.(1855-1857)gGa>gAa p.G619E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 619 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) TATTCCCTTTCCTAGAGTACT 0.478000 HNSCC(54;0.14) 29 93 0 0 0.001512 0 0 UNC13C 440279 broad.mit.edu 37 15 54305220 54305220 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:54305220G>A ENST00000545554.1 + 1 120 c.120G>A c.(118-120)aaG>aaA p.K40K UNC13C_ENST00000537900.1_Silent_p.K40K|UNC13C_ENST00000260323.11_Silent_p.K40K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 40 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding 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) AGCAGAAAAAGGATCAAGACT 0.368000 27 10 0 0 0.00127121 0 0 MAG 4099 broad.mit.edu 37 19 35801058 35801058 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:35801058G>A ENST00000361922.4 + 8 1663 c.1513G>A c.(1513-1515)Gga>Aga p.G505R MAG_ENST00000537831.2_Missense_Mutation_p.G480R|MAG_ENST00000392213.3_Missense_Mutation_p.G505R|MAG_ENST00000593348.1_3'UTR NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 505 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GCCCTTCCAGGGAGCCCGTGA 0.677000 23 21 0 0 0.00278032 0 0 BHLHE40 8553 broad.mit.edu 37 3 5024874 5024874 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:5024874G>A ENST00000256495.3 + 5 1339 c.736G>A c.(736-738)Gga>Aga p.G246R NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 246 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 CAGTGGCTATGGAGGAGAATC 0.582000 25 48 0 0 0.000878237 0 0 IYD 389434 broad.mit.edu 37 6 150713566 150713566 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:150713566C>T ENST00000344419.3 + 3 596 c.456C>T c.(454-456)atC>atT p.I152I IYD_ENST00000229447.5_Silent_p.I152I|IYD_ENST00000500320.3_Silent_p.I152I|IYD_ENST00000392256.2_Silent_p.I152I|IYD_ENST00000425615.3_Silent_p.I97I|IYD_ENST00000392255.3_Silent_p.I152I NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 152 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane p.I152M(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TTCGAAAGATCATTGAGGAGG 0.522000 28 32 0 0 0.000720815 0 0 ABCA6 23460 broad.mit.edu 37 17 67103946 67103946 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:67103946G>A ENST00000284425.2 - 18 2454 c.2280C>T c.(2278-2280)ttC>ttT p.F760F NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 760 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CCAGATCACTGAAAAGATCTA 0.318000 8 21 0 0 0.000157383 0 0 FNDC1 84624 broad.mit.edu 37 6 159687154 159687154 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:159687154G>A ENST00000297267.9 + 21 5523 c.5323G>A c.(5323-5325)Gat>Aat p.D1775N FNDC1_ENST00000340366.6_Missense_Mutation_p.D1712N NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1775 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TTTCAAACATGATCCCAGCTA 0.468000 20 33 0 0 0.000958276 0 0 DNAH1 25981 broad.mit.edu 37 3 52403981 52403981 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:52403981C>T ENST00000420323.2 + 38 6345 c.6084C>T c.(6082-6084)ccC>ccT p.P2028P NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2028 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGCTGCCTCCCTTGCTGAAGC 0.607000 35 103 0 0 0.00111076 0 0 TRERF1 55809 broad.mit.edu 37 6 42237097 42237097 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:42237097C>T ENST00000541110.1 - 5 800 c.232G>A c.(232-234)Gat>Aat p.D78N TRERF1_ENST00000354325.2_Missense_Mutation_p.D78N|TRERF1_ENST00000372922.4_Missense_Mutation_p.D78N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D78N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D78N Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 78 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCGAGGTATCCATTTGGCCA 0.582000 40 37 0 0 0.00148497 0 0 AGBL1 123624 broad.mit.edu 37 15 86801215 86801215 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:86801215G>A ENST00000441037.2 + 8 879 c.784G>A c.(784-786)Gat>Aat p.D262N AGBL1_ENST00000421325.2_Missense_Mutation_p.D262N NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 262 Asp-rich. C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 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 AGATGATGGCGATGATGAAGT 0.433000 33 66 0 0 0.00111076 0 0 OR6N1 128372 broad.mit.edu 37 1 158736239 158736239 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158736239G>A ENST00000335094.2 - 1 253 c.234C>T c.(232-234)atC>atT p.I78I NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GCATCTTAGGGATGGTGGCAG 0.498000 34 49 0 0 0.000692331 0 0 KLF11 8462 broad.mit.edu 37 2 10188702 10188702 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:10188702C>T ENST00000535335.1 + 3 1403 c.1187C>T c.(1186-1188)gCc>gTc p.A396V KLF11_ENST00000540845.1_Missense_Mutation_p.A396V|KLF11_ENST00000305883.1_Missense_Mutation_p.A413V NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 413 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) CACCTTAAGGCCCATCTTCGC 0.557000 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 219 0 0 0.000781405 0 0 SV2A 9900 broad.mit.edu 37 1 149883442 149883442 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149883442G>A ENST00000369146.3 - 3 1203 c.713C>T c.(712-714)tCg>tTg p.S238L SV2A_ENST00000369145.1_Missense_Mutation_p.S238L NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 238 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GACTGAGAGCGAGATGAGCAG 0.582000 9 55 0 0 0.000274275 0 0 IQCA1 79781 broad.mit.edu 37 2 237300694 237300694 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:237300694C>T ENST00000409907.3 - 11 1612 c.1338G>A c.(1336-1338)caG>caA p.Q446Q IQCA1_ENST00000431676.2_Silent_p.Q405Q|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000309507.5_Silent_p.Q442Q Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 446 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TTTTAAGTTCCTGTCTCATCA 0.408000 35 179 0 0 0.00111076 0 0 FAM83D 81610 broad.mit.edu 37 20 37580853 37580853 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:37580853C>T ENST00000217429.4 + 4 1579 c.1538C>T c.(1537-1539)tCc>tTc p.S513F NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 483 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) TCTGTGTCTTCCCAAGGCTCT 0.512000 16 56 0 0 0.00074312 0 0 DNM1 1759 broad.mit.edu 37 9 131002264 131002264 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:131002264G>A ENST00000341179.7 + 14 1638 c.1545_splice c.e14-1 p.D516_splice DNM1_ENST00000486160.1_Splice_Site_p.D516_splice|DNM1_ENST00000475805.1_Splice_Site_p.D516_splice|DNM1_ENST00000393594.3_Splice_Site_p.D516_splice|DNM1_ENST00000372923.3_Splice_Site_p.D516_splice NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 516 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTCTTTGCAGGATGAGATTCT 0.602000 40 132 0 0 0.000781405 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223174 118223174 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:118223174C>T ENST00000402510.2 - 11 2018 c.2019G>A c.(2017-2019)gtG>gtA p.V673V NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 673 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AAAGGCTTTCCACCATCAGTG 0.463000 10 16 0 0 0.000442599 0 0 PDE1B 5153 broad.mit.edu 37 12 54968987 54968987 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:54968987G>A ENST00000243052.3 + 11 1606 c.1170G>A c.(1168-1170)gaG>gaA p.E390E PDE1B_ENST00000538346.1_Silent_p.E349E|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Silent_p.E370E NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 390 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 CCCTCATGGAGGAATTCTTCC 0.572000 27 68 0 0 0.001512 0 0 WDR41 55255 broad.mit.edu 37 5 76736641 76736641 + Silent SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:76736641T>C ENST00000296679.4 - 9 1254 c.879A>G c.(877-879)gaA>gaG p.E293E WDR41_ENST00000414719.2_Silent_p.E39E|WDR41_ENST00000507029.1_Silent_p.E238E NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 293 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TTTTTACCTCTTCATCACATG 0.323000 27 17 0 0 0.00106085 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375766 93375766 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:93375766G>A ENST00000375765.3 - 2 732 c.344C>T c.(343-345)cCc>cTc p.P115L NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 115 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CAGCATGATGGGGATGCTCTC 0.582000 22 86 0 0 0.00047179 0 0 DCTN4 51164 broad.mit.edu 37 5 150102495 150102495 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150102495G>A ENST00000447998.2 - 9 997 c.882C>T c.(880-882)atC>atT p.I294I DCTN4_ENST00000446090.2_Silent_p.I301I|DCTN4_ENST00000424236.1_Silent_p.I237I NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 294 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTTGAATTTGATTGACGTTG 0.338000 17 5 0 0 0.00152264 0 0 SMG6 23293 broad.mit.edu 37 17 2202762 2202762 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:2202762G>A ENST00000544865.1 - 2 1702 c.1192C>T c.(1192-1194)Cct>Tct p.P398S SMG6_ENST00000263073.5_Missense_Mutation_p.P429S Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 429 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGTCCCAAAGGCGCGGACTCT 0.547000 36 36 0 0 0.00058488 0 0 HLA-B 3106 broad.mit.edu 37 6 31323340 31323340 + Missense_Mutation SNP G G A rs77659523 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31323340G>A ENST00000412585.2 - 4 677 c.649C>T c.(649-651)Ccc>Tcc p.P217S NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 TCAGAGATGGGGTGGTGGGTC 0.582000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 33 36 0 0 0.000953801 0 0 TTC30B 150737 broad.mit.edu 37 2 178416698 178416698 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:178416698C>T ENST00000408939.2 - 1 1044 c.794G>A c.(793-795)aGa>aAa p.R265K NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 265 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CTCATAGTTTCTCAGTTGGTA 0.512000 45 119 0 0 0.00222228 0 0 SNRNP35 11066 broad.mit.edu 37 12 123950399 123950399 + Silent SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:123950399C>G ENST00000526639.2 + 2 891 c.312C>G c.(310-312)gcC>gcG p.A104A SNRNP35_ENST00000412157.2_Silent_p.A109A|SNRNP35_ENST00000350887.5_Silent_p.A104A|SNRNP35_ENST00000527158.2_Intron NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 104 RRM. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 AGGAGCGTGCCGTGATCAAAG 0.527000 76 42 0 0 0.000781405 0 0 TSC2 7249 broad.mit.edu 37 16 2138580 2138580 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2138580C>T ENST00000219476.3 + 42 6023 c.5393C>T c.(5392-5394)tCc>tTc p.S1798F TSC2_ENST00000382538.6_Missense_Mutation_p.S1683F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1731F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1742F|TSC2_ENST00000439673.2_Missense_Mutation_p.S1695F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1775F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1755F NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1798 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CGCCTCATCTCCTCGGTGGAG 0.602000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 11 15 0 0 0.000978159 0 0 SCN2A 6326 broad.mit.edu 37 2 166167084 166167084 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166167084G>A ENST00000375437.2 + 7 1239 c.949G>A c.(949-951)Gat>Aat p.D317N SCN2A_ENST00000283256.6_Missense_Mutation_p.D317N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D317N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D317N NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 317 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATTTAACTGGGATGAATATAT 0.259000 5 23 0 0 0.000602214 0 0 EIF4G1 1981 broad.mit.edu 37 3 184035276 184035276 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:184035276C>T ENST00000342981.4 + 4 729 c.315C>T c.(313-315)atC>atT p.I105I EIF4G1_ENST00000382330.3_Silent_p.I112I|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000319274.6_Silent_p.I105I|EIF4G1_ENST00000392537.2_Silent_p.I18I|EIF4G1_ENST00000346169.2_Silent_p.I105I|EIF4G1_ENST00000414031.1_Silent_p.I65I|EIF4G1_ENST00000424196.1_Silent_p.I112I|EIF4G1_ENST00000427845.1_Silent_p.I18I|EIF4G1_ENST00000352767.3_Silent_p.I112I|EIF4G1_ENST00000411531.1_Silent_p.I65I|EIF2B5_ENST00000444495.1_Intron NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 105 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTACTACATCCCTGGACAGG 0.587000 11 32 0 0 0.00185496 0 0 CD300LB 124599 broad.mit.edu 37 17 72527465 72527465 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:72527465G>A ENST00000392621.1 - 1 140 c.136C>T c.(136-138)Ctt>Ttt p.L46F CD300LB_ENST00000314401.3_Missense_Mutation_p.L46F NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 9 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 AGGCTGAGAAGGAGCAGAGCA 0.622000 25 59 0 0 0.00127121 0 0 PSD 5662 broad.mit.edu 37 10 104176661 104176661 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:104176661G>A ENST00000020673.5 - 2 661 c.135C>T c.(133-135)tcC>tcT p.S45S PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Silent_p.S45S NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 45 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCCGTAGCAAGGAGCCTGTGC 0.692000 11 9 0 0 0.000958276 0 0 GRM7 2917 broad.mit.edu 37 3 7620609 7620609 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:7620609C>T ENST00000486284.1 + 8 2290 c.2016C>T c.(2014-2016)gcC>gcT p.A672A GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Silent_p.A672A|GRM7_ENST00000403881.1_Silent_p.A672A|GRM7_ENST00000389336.4_Silent_p.A672A|GRM7_ENST00000402647.2_Silent_p.A672A NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 672 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GTTATGCAGCCCTCTTGACGA 0.458000 22 53 0 0 0.00152264 0 0 DSE 29940 broad.mit.edu 37 6 116757438 116757438 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:116757438C>T ENST00000331677.3 + 7 2251 c.1807C>T c.(1807-1809)Cat>Tat p.H603Y DSE_ENST00000359564.2_Missense_Mutation_p.H603Y|DSE_ENST00000452085.3_Missense_Mutation_p.H603Y|DSE_ENST00000537543.1_Missense_Mutation_p.H622Y Q9UL01 DSE_HUMAN dermatan sulfate epimerase 603 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity p.H603Y(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) AGATGGTGTCCATGGGGCTTT 0.488000 16 14 0 0 0.000422831 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24979684 24979684 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:24979684G>A ENST00000289968.6 - 6 518 c.449C>T c.(448-450)tCa>tTa p.S150L ARHGAP17_ENST00000441763.2_Missense_Mutation_p.S150L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S150L NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 150 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GGCTCTGACTGAATCCCAGTC 0.493000 25 50 0 0 0.00178596 0 0 KRT26 353288 broad.mit.edu 37 17 38928098 38928098 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38928098G>A ENST00000335552.4 - 1 316 c.268C>T c.(268-270)Ctc>Ttc p.L90F NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 90 Coil 1A.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) CGGTCGTTGAGATTCTGCATG 0.547000 26 79 0 0 0.00178596 0 0 LRRC7 57554 broad.mit.edu 37 1 70505081 70505081 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:70505081C>T ENST00000310961.5 + 22 3893 c.3475C>T c.(3475-3477)Cgc>Tgc p.R1159C LRRC7_ENST00000415775.2_Missense_Mutation_p.R438C|LRRC7_ENST00000035383.5_Missense_Mutation_p.R1154C Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1154 centrosome|focal adhesion|nucleolus protein binding 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 AGGGCTGGATCGCCAAAGCAG 0.527000 31 71 0 0 0.00058488 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064625 78064625 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:78064625G>A ENST00000299642.4 + 3 593 c.508G>A c.(508-510)Ggt>Agt p.G170S CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.G161S NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 161 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 ACAGCCTAACGGTGGCAAGCG 0.527000 21 48 0 0 0.00229938 0 0 SHOX2 6474 broad.mit.edu 37 3 157816015 157816015 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:157816015G>A ENST00000490689.2 - 5 1907 c.374C>T c.(373-375)cCg>cTg p.P125L SHOX2_ENST00000483851.2_Missense_Mutation_p.P254L|SHOX2_ENST00000441443.2_Missense_Mutation_p.P125L|SHOX2_ENST00000389589.4_Missense_Mutation_p.P290L|SHOX2_ENST00000425436.3_Missense_Mutation_p.P266L O60902 SHOX2_HUMAN short stature homeobox 2 266 E -> D (in Ref. 1; CAA05341). nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GGCCAGGTGCGGATGCAGGTG 0.672000 36 63 0 0 0.00283554 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 11 437 0 0 0.00229938 0 0 KLHL4 56062 broad.mit.edu 37 X 86773011 86773011 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:86773011G>A ENST00000373119.4 + 1 260 c.115G>A c.(115-117)Gaa>Aaa p.E39K KLHL4_ENST00000373114.4_Missense_Mutation_p.E39K NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 39 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TCTTCAGCAGGAAGGATATGA 0.498000 20 19 0 0 0.00121646 0 0 ASB10 136371 broad.mit.edu 37 7 150883911 150883911 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150883911G>A ENST00000422024.1 - 1 567 c.442C>T c.(442-444)Cgt>Tgt p.R148C ASB10_ENST00000275838.1_Missense_Mutation_p.R103C|ASB10_ENST00000420175.2_Missense_Mutation_p.R103C|ASB10_ENST00000434669.1_Missense_Mutation_p.R148C|ASB10_ENST00000377867.3_Intron NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 103 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCAGAGCACGGATGTTGAAG 0.632000 8 16 0 0 0.000274275 0 0 TRIM36 55521 broad.mit.edu 37 5 114466515 114466515 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:114466515G>A ENST00000513154.1 - 9 1896 c.1570C>T c.(1570-1572)Cgt>Tgt p.R524C TRIM36_ENST00000514154.1_Missense_Mutation_p.R381C|TRIM36_ENST00000282369.3_Missense_Mutation_p.R536C Q9NQ86 TRI36_HUMAN tripartite motif containing 36 536 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CTCTCTACACGGTCTCTCTTC 0.398000 41 31 0 0 0.00222228 0 0 PTH1R 5745 broad.mit.edu 37 3 46944973 46944973 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46944973C>T ENST00000449590.1 + 16 1812 c.1609C>T c.(1609-1611)Cat>Tat p.H537Y PTH1R_ENST00000430002.2_Missense_Mutation_p.H537Y|PTH1R_ENST00000313049.5_Missense_Mutation_p.H537Y|PTH1R_ENST00000418619.1_Missense_Mutation_p.H537Y NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 537 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GCTGCCTGGCCATGCCAAGCC 0.677000 25 76 0 0 0.00047179 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107450509 107450509 + Missense_Mutation SNP G G A rs138821621 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:107450509G>A ENST00000409382.3 - 3 1647 c.1037C>T c.(1036-1038)tCg>tTg p.S346L ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 346 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.S346L(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TCTTACCTGCGAATTAATGAT 0.393000 87 79 0 0 0.000781405 0 0 MAST1 22983 broad.mit.edu 37 19 12981851 12981851 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12981851G>A ENST00000251472.4 + 24 3167 c.3126_splice c.e24-1 p.S1043_splice NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1043 PDZ. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TTCCCCCAGAGTGGCAACAAG 0.592000 47 63 0 0 0.000781405 0 0 MRPL20 55052 broad.mit.edu 37 1 1341166 1341166 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:1341166G>T ENST00000482352.1 - 3 371 c.299C>A c.(298-300)cCa>cAa p.P100Q MRPL20_ENST00000493287.1_Intron|MRPL20_ENST00000344843.7_Intron Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 0 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GAATTTCAGTGGGACCCACAT 0.512000 8 234 0.000442599 0.00162127 0.000442599 1 0 FCGR1B 2210 broad.mit.edu 37 1 120930086 120930086 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:120930086C>T ENST00000369384.4 - 4 557 c.515G>A c.(514-516)gGa>gAa p.G172E RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000472543.1_5'UTR|FCGR1B_ENST00000369383.4_Missense_Mutation_p.G80E NM_001017986.3 NP_001017986.1 Q92637 FCGRB_HUMAN Fc fragment of IgG, high affinity Ib, receptor (CD64) 172 Ig-like C2-type 2. interferon-gamma-mediated signaling pathway integral to membrane|plasma membrane IgG binding|immunoglobulin receptor activity breast(1)|endometrium(1)|lung(2) 4 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) GCGATGCTTTCCCATGCCTGA 0.433000 30 191 0 0 0.0025221 0 0 XPO6 23214 broad.mit.edu 37 16 28113227 28113227 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:28113227A>T ENST00000304658.5 - 22 3486 c.2986T>A c.(2986-2988)Ttt>Att p.F996I XPO6_ENST00000565698.1_Missense_Mutation_p.F982I NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 996 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TTTTGTTTAAAAAGGTGGATG 0.468000 15 43 0 0 0.000422831 0 0 VSTM2A 222008 broad.mit.edu 37 7 54612448 54612448 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:54612448C>T ENST00000302287.3 + 2 619 c.213C>T c.(211-213)gaC>gaT p.D71D VSTM2A_ENST00000407838.3_Silent_p.D71D|VSTM2A_ENST00000402026.2_Silent_p.D70D|VSTM2A_ENST00000402613.3_Silent_p.D71D|VSTM2A_ENST00000404951.1_Silent_p.D71D Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 71 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GGCCGGAGGACCTGGATCCCG 0.731000 11 29 0 0 0.00185496 0 0 PRSS36 146547 broad.mit.edu 37 16 31157129 31157129 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31157129C>T ENST00000268281.4 - 6 759 c.701G>A c.(700-702)gGc>gAc p.G234D PRSS36_ENST00000418068.2_Missense_Mutation_p.G234D|PRSS36_ENST00000569305.1_Missense_Mutation_p.G234D NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 234 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GTCCCTGCGGCCCTCTGGGTA 0.607000 44 37 0 0 0.000680045 0 0 COL5A1 1289 broad.mit.edu 37 9 137653774 137653774 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:137653774G>A ENST00000371817.3 + 19 2353 c.1939G>A c.(1939-1941)Gac>Aac p.D647N NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 647 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTCCTAGGGTGACCCTGGTCC 0.567000 34 55 0 0 0.00170553 0 0 C4orf22 255119 broad.mit.edu 37 4 81866028 81866028 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:81866028G>A ENST00000358105.3 + 5 590 c.541G>A c.(541-543)Gat>Aat p.D181N C4orf22_ENST00000508675.1_Missense_Mutation_p.D198N NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 181 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AGTGATTGCCGATAATCCAGA 0.323000 25 21 0 0 0.000878237 0 0 NTRK3 4916 broad.mit.edu 37 15 88476406 88476406 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:88476406C>T ENST00000394480.1 - 16 2047 c.1726G>A c.(1726-1728)Gat>Aat p.D576N NTRK3_ENST00000357724.2_Missense_Mutation_p.D568N|NTRK3_ENST00000542733.2_Missense_Mutation_p.D478N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D576N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D568N|NTRK3_ENST00000360948.2_Missense_Mutation_p.D576N|NTRK3_ENST00000558676.1_Missense_Mutation_p.D568N NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 576 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.D576N(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) AGGGTGGGATCCTTCAGGGCC 0.562000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 20 7 0 0 0.00047179 0 0 PAGE3 139793 broad.mit.edu 37 X 55287011 55287011 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:55287011C>T ENST00000374951.1 - 4 583 c.275G>A c.(274-276)gGa>gAa p.G92E PAGE3_ENST00000519203.1_Missense_Mutation_p.G92E P antigen family, member 3 (prostate associated) endometrium(1)|kidney(1)|lung(1) 3 CAGAAATTCTCCCTTGACATT 0.393000 8 10 0 0 0.000673444 0 0 ACACA 31 broad.mit.edu 37 17 35548085 35548085 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:35548085G>A ENST00000353139.5 - 38 5029 c.4548C>T c.(4546-4548)ccC>ccT p.P1516P ACACA_ENST00000394406.2_Silent_p.P1479P|ACACA_ENST00000335166.5_Silent_p.P1401P|ACACA_ENST00000360679.3_Silent_p.P1421P NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1479 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGATAACCGTGGGCACAAAGT 0.453000 14 49 0 0 0.000308642 0 0 LIN7A 8825 broad.mit.edu 37 12 81239607 81239607 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81239607T>A ENST00000552864.1 - 4 587 c.385A>T c.(385-387)Aat>Tat p.N129Y NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 129 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 ATGGGGGAATTTTGCTCCTTT 0.498000 15 46 0 0 0.000308642 0 0 ZNF92 168374 broad.mit.edu 37 7 64864337 64864337 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:64864337C>T ENST00000328747.7 + 4 1509 c.1310C>T c.(1309-1311)tCc>tTc p.S437F ZNF92_ENST00000357512.2_Missense_Mutation_p.S405F|ZNF92_ENST00000450302.2_Missense_Mutation_p.S368F|ZNF92_ENST00000431504.1_Missense_Mutation_p.S361F NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 437 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) TTTAGCTGGTCCTCAGCTTTT 0.363000 13 16 0 0 0.00185496 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961340 73961340 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:73961340C>T ENST00000373468.1 - 3 3703 c.3052G>A c.(3052-3054)Ggc>Agc p.G1018S KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1018S Q5QGS0 K2022_HUMAN KIAA2022 1018 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCATCATCGCCATCCTTTTCA 0.463000 23 2 0 0 0.00229938 0 0 RBM38 55544 broad.mit.edu 37 20 55982684 55982684 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:55982684C>T ENST00000356208.5 + 4 677 c.502C>T c.(502-504)Ccc>Tcc p.P168S RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.P87S NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 168 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GCTGTCCTCGCCCTACATTGA 0.682000 12 36 0 0 0.00185496 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813867 106813867 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:106813867G>A ENST00000407775.2 + 8 1807 c.1557G>A c.(1555-1557)aaG>aaA p.K519K ZFPM2_ENST00000520492.1_Silent_p.K387K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.K250K|ZFPM2_ENST00000517361.1_Silent_p.K387K|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 519 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCTTAGCTAAGATGTCTGAAC 0.498000 19 72 0 0 0.000958276 0 0 NPAP1 23742 broad.mit.edu 37 15 24922679 24922679 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:24922679C>T ENST00000329468.2 + 1 2139 c.1665C>T c.(1663-1665)tcC>tcT p.S555S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.S555S(1) CAGTCATTTCCACTGTCACAA 0.488000 27 68 0 0 0.000878237 0 0 PSD2 84249 broad.mit.edu 37 5 139193033 139193033 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:139193033G>A ENST00000274710.3 + 3 716 c.511G>A c.(511-513)Gac>Aac p.D171N NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 171 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGAGAGCGACAGCTGCGT 0.657000 15 39 0 0 0.000308642 0 0 ASAH2 56624 broad.mit.edu 37 10 51974591 51974591 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:51974591C>T ENST00000395526.3 - 8 1051 c.1052G>A c.(1051-1053)gGa>gAa p.G351E ASAH2_ENST00000443575.1_Missense_Mutation_p.G193E|ASAH2_ENST00000329428.6_Missense_Mutation_p.G332E|ASAH2_ENST00000447815.1_Missense_Mutation_p.G351E NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 351 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 GGACACATCTCCTAGGTTTGA 0.448000 11 1 0 0 0.00136819 0 0 CACNA1G 8913 broad.mit.edu 37 17 48650027 48650027 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48650027A>C ENST00000352832.5 + 6 1231 c.859A>C c.(859-861)Acg>Ccg p.T287P CACNA1G_ENST00000515411.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T287P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T287P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T287P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T287P|CACNA1G_ENST00000416767.4_Missense_Mutation_p.T287P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T287P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T287P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T287P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T287P NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 287 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AAGCGTGCCCACGCTGCGCGG 0.622000 3 10 0 0 6.4e-05 0 0 NBAS 51594 broad.mit.edu 37 2 15614280 15614280 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:15614280G>A ENST00000281513.5 - 15 1535 c.1510C>T c.(1510-1512)Cca>Tca p.P504S NBAS_ENST00000441750.1_Missense_Mutation_p.P504S NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 504 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTCCGTGGTGGTGCAAATCGC 0.453000 52 59 0 0 0.000781405 0 0 PLXNA2 5362 broad.mit.edu 37 1 208315790 208315790 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:208315790G>A ENST00000367033.3 - 4 2147 c.1390C>T c.(1390-1392)Ccc>Tcc p.P464S NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 464 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCACCATGGGGGGGACCGTCG 0.597000 35 124 0 0 0.00170553 0 0 GDF3 9573 broad.mit.edu 37 12 7842921 7842921 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7842921A>G ENST00000329913.3 - 2 695 c.648T>C c.(646-648)ttT>ttC p.F216F NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 216 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CTTCAGGCTGAAAATTCACCC 0.493000 16 47 0 0 0.000422831 0 0 ALPK2 115701 broad.mit.edu 37 18 56246784 56246784 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:56246784T>G ENST00000361673.3 - 4 1437 c.1224A>C c.(1222-1224)caA>caC p.Q408H NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 408 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CCCCAACTTCTTGGGGTTGTG 0.562000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 50 0 0 0.000442599 0 0 TRIP13 9319 broad.mit.edu 37 5 900650 900650 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:900650G>A ENST00000166345.3 + 4 786 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 144 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) ATACGATGTGGAAGTCAAATC 0.458000 35 22 0 0 0.00111076 0 0 FAM155B 27112 broad.mit.edu 37 X 68748926 68748926 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:68748926G>A ENST00000252338.4 + 2 994 c.952G>A c.(952-954)Gag>Aag p.E318K NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 318 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 ATACTGCCTGGAGGTGCAGAC 0.587000 10 15 0 0 0.000978159 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510080 77510080 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:77510080G>A ENST00000477717.1 + 3 688 c.453G>A c.(451-453)agG>agA p.R151R NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 151 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 GCATCCAGAGGATCCTCCGCA 0.642000 32 34 0 0 0.001512 0 0 MROH7 374977 broad.mit.edu 37 1 55166875 55166875 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:55166875G>A ENST00000414150.2 + 19 3443 c.3165G>A c.(3163-3165)ggG>ggA p.G1055G MROH7_ENST00000409996.1_Silent_p.G623G|MROH7_ENST00000454855.2_Silent_p.G573G|MROH7_ENST00000421030.2_Silent_p.G1055G maestro heat-like repeat family member 7 ACATGGATGGGATGCTGGTGG 0.592000 32 34 0 0 0.00058488 0 0 CHD7 55636 broad.mit.edu 37 8 61735282 61735282 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:61735282G>A ENST00000423902.2 + 12 3657 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E1060K NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1060 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCAGTTGTATGAAATGTACTT 0.418000 28 55 0 0 0.001512 0 0 ZNF202 7753 broad.mit.edu 37 11 123597480 123597480 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:123597480G>A ENST00000336139.4 - 8 1534 c.1172C>T c.(1171-1173)cCc>cTc p.P391L ZNF202_ENST00000529691.1_Missense_Mutation_p.P391L|ZNF202_ENST00000530393.1_Missense_Mutation_p.P391L O95125 ZN202_HUMAN zinc finger protein 202 391 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CCCTAACAGGGGGTGGACGGG 0.448000 28 20 0 0 0.000720815 0 0 SP140L 93349 broad.mit.edu 37 2 231249953 231249953 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231249953G>A ENST00000243810.6 + 9 718 c.718G>A c.(718-720)Gat>Aat p.D240N SP140L_ENST00000396563.4_Missense_Mutation_p.D240N|SP140L_ENST00000444636.1_Missense_Mutation_p.D240N|SP140L_ENST00000415673.2_Missense_Mutation_p.D240N Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 240 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CAGCAAAGCCGATGGCCAGCT 0.468000 19 52 0 0 0.00047179 0 0 KRT32 3882 broad.mit.edu 37 17 39623238 39623238 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39623238C>T ENST00000225899.3 - 1 443 c.340G>A c.(340-342)Gtg>Atg p.V114M NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 114 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) AGCTGCCGCACCCTCGTCAGG 0.592000 44 78 0 0 0.000781405 0 0 TEX26 122046 broad.mit.edu 37 13 31540496 31540496 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:31540496G>A ENST00000380473.3 + 5 620 c.607G>A c.(607-609)Gga>Aga p.G203R TEX26_ENST00000530916.1_Intron NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 203 TTTCAAATATGGATGCTACTC 0.368000 23 56 0 0 0.000586117 0 0 MAEL 84944 broad.mit.edu 37 1 166963267 166963267 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:166963267G>A ENST00000367872.4 + 5 728 c.484G>A c.(484-486)Gaa>Aaa p.E162K MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.E131K NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 162 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TATTATAGGTGAAATTCCACG 0.348000 7 36 0 0 0.000274275 0 0 SCGN 10590 broad.mit.edu 37 6 25689431 25689431 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25689431C>T ENST00000377961.2 + 8 727 c.559C>T c.(559-561)Caa>Taa p.Q187* SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 187 extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CTTCCTTCTCCAATTTAAAAT 0.368000 17 68 0 0 0.000958276 0 0 KCNA5 3741 broad.mit.edu 37 12 5154222 5154222 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5154222C>T ENST00000252321.3 + 1 1138 c.909C>T c.(907-909)gtC>gtT p.V303V NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 303 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCAGCGGGGTCATGGCCCCGC 0.706000 40 25 0 0 0.00111076 0 0 FBXO41 150726 broad.mit.edu 37 2 73491469 73491469 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:73491469G>A ENST00000521871.1 - 6 2158 c.1743C>T c.(1741-1743)ttC>ttT p.F581F FBXO41_ENST00000520530.2_Silent_p.F581F|FBXO41_ENST00000295133.5_Silent_p.F642F Q8TF61 FBX41_HUMAN F-box protein 41 581 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 GGCGGGCCACGAAGCGCCAGT 0.632000 43 59 0 0 0.00285205 0 0 TRIML1 339976 broad.mit.edu 37 4 189060977 189060977 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:189060977G>A ENST00000332517.3 + 1 405 c.265G>A c.(265-267)Gag>Aag p.E89K NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 89 multicellular organismal development ligase activity|zinc ion binding 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) GCTGCAGAGCGAGGATGAGCA 0.662000 23 13 0 0 0.00229938 0 0 HEPHL1 341208 broad.mit.edu 37 11 93826760 93826760 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:93826760G>A ENST00000315765.9 + 13 2396 c.2388G>A c.(2386-2388)gtG>gtA p.V796V NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 796 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GAGAATTTGTGGAGATCAAAG 0.478000 33 36 0 0 0.00209593 0 0 CAPN5 726 broad.mit.edu 37 11 76823638 76823638 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:76823638A>T ENST00000278559.3 + 4 490 c.301A>T c.(301-303)Atc>Ttc p.I101F CAPN5_ENST00000456580.2_Missense_Mutation_p.I141F|CAPN5_ENST00000529629.1_Missense_Mutation_p.I101F|CAPN5_ENST00000531028.1_Intron NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 101 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 TACCCAGGTCATCCCAGACTG 0.612000 8 16 0 0 0.000673444 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237415 140237415 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140237415C>T ENST00000307360.5 + 1 1782 c.1782C>T c.(1780-1782)cgC>cgT p.R594R PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAAGGTGCGCGCAGTGGACG 0.672000 14 23 0 0 0.00185496 0 0 PCNT 5116 broad.mit.edu 37 21 47831639 47831639 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:47831639G>A ENST00000359568.5 + 28 5759 c.5652G>A c.(5650-5652)aaG>aaA p.K1884K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1884 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACCAGCGGAAGGCGGCCCACT 0.667000 10 40 0 0 0.000978159 0 0 FBXO36 130888 broad.mit.edu 37 2 230875502 230875502 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:230875502G>A ENST00000373652.3 + 5 797 c.376G>A c.(376-378)Ggc>Agc p.G126S FBXO36_ENST00000409992.1_Missense_Mutation_p.G137S|FBXO36_ENST00000283946.3_Missense_Mutation_p.G157S Q8NEA4 FBX36_HUMAN F-box protein 36 157 F-box. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) GGAGGACACAGGCTGGAGACA 0.547000 16 39 0 0 0.000566183 0 0 PBX1 5087 broad.mit.edu 37 1 164532502 164532502 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:164532502G>A ENST00000420696.2 + 2 407 c.219G>A c.(217-219)atG>atA p.M73I PBX1_ENST00000367897.1_Missense_Mutation_p.M73I|PBX1_ENST00000559240.1_Missense_Mutation_p.M73I|PBX1_ENST00000401534.1_Missense_Mutation_p.M73I|PBX1_ENST00000540236.1_Missense_Mutation_p.M73I NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 73 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GCCACAGAATGAAGCCTGCCT 0.368000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 22 120 0 0 0.00278032 0 0 C14orf39 317761 broad.mit.edu 37 14 60903654 60903654 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:60903654G>A ENST00000321731.3 - 18 1832 c.1673C>T c.(1672-1674)tCa>tTa p.S558L NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 558 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) CTGTCCAAATGAAAATGGAAA 0.338000 65 209 0 0 0.000781405 0 0 RIMS1 22999 broad.mit.edu 37 6 72957726 72957726 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:72957726T>C ENST00000264839.7 + 12 2137 c.2137T>C c.(2137-2139)Tcc>Ccc p.S713P RIMS1_ENST00000425662.2_Missense_Mutation_p.S106P|RIMS1_ENST00000517960.1_Missense_Mutation_p.S713P|RIMS1_ENST00000517827.1_Missense_Mutation_p.S172P|RIMS1_ENST00000491071.2_Missense_Mutation_p.S713P|RIMS1_ENST00000518273.1_Missense_Mutation_p.S713P|RIMS1_ENST00000522291.1_Missense_Mutation_p.S713P|RIMS1_ENST00000348717.5_Missense_Mutation_p.S713P|RIMS1_ENST00000401910.3_Missense_Mutation_p.S187P|RIMS1_ENST00000521978.1_Missense_Mutation_p.S713P|RIMS1_ENST00000523963.1_Missense_Mutation_p.S187P|RIMS1_ENST00000520567.1_Missense_Mutation_p.S713P Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 713 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGGTTCAAGTTCCTTTGAATC 0.328000 15 21 0 0 0.000422831 0 0 SLC2A7 155184 broad.mit.edu 37 1 9083116 9083116 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:9083116C>T ENST00000400906.1 - 3 171 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 58 integral to membrane|plasma membrane sugar transmembrane transporter activity p.E58K(2) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AAGTAGGTTTCGTTGTAAAAT 0.483000 70 93 0 0 0.000781405 0 0 ATCAY 85300 broad.mit.edu 37 19 3909546 3909546 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:3909546G>A ENST00000450849.2 + 7 1177 c.710G>A c.(709-711)gGt>gAt p.G237D ATCAY_ENST00000600960.1_Missense_Mutation_p.G237D|ATCAY_ENST00000398448.3_Missense_Mutation_p.G243D|ATCAY_ENST00000301260.6_Missense_Mutation_p.G237D NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 237 CRAL-TRIO. transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) TACCTGAACGGTGCCACGCCC 0.602000 9 29 0 0 0.000673444 0 0 DNAH5 1767 broad.mit.edu 37 5 13928280 13928280 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13928280C>T ENST00000265104.4 - 3 304 c.200G>A c.(199-201)aGa>aAa p.R67K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 67 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R67I(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGATCAATTCTTTCAATCTG 0.318000 Kartagener syndrome 12 42 0 0 0.00185496 0 0 GJA3 2700 broad.mit.edu 37 13 20716813 20716813 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:20716813G>A ENST00000241125.3 - 2 791 c.615C>T c.(613-615)atC>atT p.I205I NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 205 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) CCAGCATGAAGATGATGAAGA 0.632000 17 25 0 0 0.000566183 0 0 DENND1C 79958 broad.mit.edu 37 19 6468914 6468914 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:6468914G>T ENST00000381480.2 - 20 1570 c.1458C>A c.(1456-1458)ctC>ctA p.L486L DENND1C_ENST00000543576.1_Silent_p.L442L NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 486 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 AGCGGCTGGGGAGGGCTGGGG 0.622000 18 38 5.35356e-11 1.97273e-10 0.00278032 1 0 SELRC1 65260 broad.mit.edu 37 1 53153604 53153604 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53153604G>A ENST00000371538.3 - 3 523 c.484C>T c.(484-486)Cca>Tca p.P162S SELRC1_ENST00000486918.1_5'UTR NM_023077.2 NP_075565.2 Q96BR5 SELR1_HUMAN Sel1 repeat containing 1 162 binding breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 GGAAAGCCTGGGGCACCCTGC 0.542000 55 40 0 0 0.000781405 0 0 ASB6 140459 broad.mit.edu 37 9 132402973 132402973 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:132402973G>A ENST00000277458.4 - 2 307 c.142C>T c.(142-144)Cga>Tga p.R48* RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_Nonsense_Mutation_p.R48*|ASB6_ENST00000450050.2_Intron NM_017873.3 NP_060343.1 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box containing 6 48 intracellular signal transduction cytoplasm NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) ACAAGGATTCGGCTCTCCTCG 0.622000 22 24 0 0 0.00229938 0 0 PRSS1 5644 broad.mit.edu 37 7 142459713 142459713 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142459713C>T ENST00000486171.1 + 4 348 c.331C>T c.(331-333)Ccc>Tcc p.P111S PRSS1_ENST00000311737.7_Missense_Mutation_p.P97S P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 97 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CATCCGCCACCCCCAATACGA 0.542000 112 53 0 0 0.000781405 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144852383 144852383 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:144852383G>A ENST00000369356.4 - 44 7350 c.7060C>T c.(7060-7062)Ccc>Tcc p.P2354S PDE4DIP_ENST00000530740.1_3'UTR|PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_3'UTR|PDE4DIP_ENST00000369354.3_3'UTR NM_001198834.2|NM_014644.4 NP_001185763.2|NP_055459.4 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACAAAAGGGGGACAGGCCCAC 0.557000 T PDGFRB MPD 13 56 0 0 0.00185496 0 0 ZADH2 284273 broad.mit.edu 37 18 72913569 72913569 + Nonsense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:72913569A>C ENST00000322342.3 - 2 1225 c.936T>G c.(934-936)taT>taG p.Y312* ZADH2_ENST00000537114.2_Nonsense_Mutation_p.Y189* NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 312 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TGGCTGCTTGATACTTAGAAA 0.527000 13 55 0 0 0.00185496 0 0 DARC 2532 broad.mit.edu 37 1 159175916 159175916 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:159175916G>A ENST00000537147.1 + 3 1530 c.687G>A c.(685-687)aaG>aaA p.K229K DARC_ENST00000368122.2_Silent_p.K229K|DARC_ENST00000368121.2_Silent_p.K231K Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 229 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TTGGAGCCAAGGGGCTGAAGA 0.542000 19 74 0 0 0.00229938 0 0 TESK2 10420 broad.mit.edu 37 1 45820995 45820995 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:45820995G>A ENST00000372086.3 - 5 920 c.520C>T c.(520-522)Cat>Tat p.H174Y TESK2_ENST00000538496.1_Missense_Mutation_p.H91Y|TESK2_ENST00000372084.1_Missense_Mutation_p.H174Y|TESK2_ENST00000341771.6_Missense_Mutation_p.H174Y|TESK2_ENST00000486676.1_5'UTR NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 174 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) AGGTCCCGATGAAAAATGCCT 0.443000 11 35 0 0 0.000978159 0 0 BEST2 54831 broad.mit.edu 37 19 12866691 12866691 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12866691C>T ENST00000549706.1 + 8 1214 c.890C>T c.(889-891)cCc>cTc p.P297L BEST2_ENST00000553030.1_Missense_Mutation_p.P297L|BEST2_ENST00000042931.1_Missense_Mutation_p.P297L Q8NFU1 BEST2_HUMAN bestrophin 2 297 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 CTCATCAACCCCTTCGGAGAG 0.537000 14 61 0 0 0.00074312 0 0 TFPI 7035 broad.mit.edu 37 2 188332640 188332640 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:188332640C>T ENST00000233156.3 - 7 942 c.648G>A c.(646-648)tgG>tgA p.W216* TFPI_ENST00000392365.1_Nonsense_Mutation_p.W216*|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 216 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) GAGTGAGACACCATGAGGGAC 0.393000 10 29 0 0 0.000442599 0 0 TMEM132D 121256 broad.mit.edu 37 12 129569296 129569296 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:129569296C>T ENST00000389441.4 - 1 1249 c.9G>A c.(7-9)cgG>cgA p.R3R TMEM132D_ENST00000422113.2_Intron Q14C87 T132D_HUMAN transmembrane protein 132D 0 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGCTTTCATCCCGTTGCATGG 0.532000 4 5 0 0 0.00024832 0 0 SP140L 93349 broad.mit.edu 37 2 231267534 231267534 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231267534G>A ENST00000415673.2 + 19 1752 c.1666G>A c.(1666-1668)Gga>Aga p.G556R SP140L_ENST00000396563.4_3'UTR|SP140L_ENST00000243810.6_3'UTR NM_138402.4 NP_612411.4 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 0 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 TGGCCAAATGGGACTTAGACT 0.378000 16 78 0 0 0.000422831 0 0 VWF 7450 broad.mit.edu 37 12 6094283 6094283 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6094283G>A ENST00000261405.5 - 40 7158 c.6904C>T c.(6904-6906)Ccc>Tcc p.P2302S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2302 VWFC 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCACACGTGGGAGCTAGAGGA 0.542000 24 59 0 0 0.00278032 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678454 48678454 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48678454C>T ENST00000352832.5 + 18 4137 c.3765C>T c.(3763-3765)ttC>ttT p.F1255F CACNA1G_ENST00000515411.1_Silent_p.F1278F|CACNA1G_ENST00000505165.1_Silent_p.F1278F|CACNA1G_ENST00000515765.1_Silent_p.F1278F|CACNA1G_ENST00000359106.5_Silent_p.F1278F|CACNA1G_ENST00000514717.1_Silent_p.F1255F|CACNA1G_ENST00000503485.1_Silent_p.F1278F|CACNA1G_ENST00000507510.2_Silent_p.F1278F|CACNA1G_ENST00000515165.1_Silent_p.F1278F|CACNA1G_ENST00000514181.1_Silent_p.F1278F|CACNA1G_ENST00000502264.1_Silent_p.F1255F|CACNA1G_ENST00000513964.1_Silent_p.F1278F|CACNA1G_ENST00000507336.1_Silent_p.F1278F|CACNA1G_ENST00000360761.4_Silent_p.F1255F|CACNA1G_ENST00000510366.1_Silent_p.F1278F|CACNA1G_ENST00000512389.1_Silent_p.F1278F|CACNA1G_ENST00000442258.2_Silent_p.F1255F|CACNA1G_ENST00000416767.4_Silent_p.F1278F|CACNA1G_ENST00000507609.1_Silent_p.F1278F|CACNA1G_ENST00000513689.2_Silent_p.F1278F|CACNA1G_ENST00000507896.1_Silent_p.F1278F|CACNA1G_ENST00000510115.1_Silent_p.F1255F|CACNA1G_ENST00000358244.5_Silent_p.F1255F|CACNA1G_ENST00000354983.4_Silent_p.F1255F|CACNA1G_ENST00000514079.1_Silent_p.F1278F|CACNA1G_ENST00000429973.2_Silent_p.F1278F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1278 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ACAAGATGTTCGACCACGTGG 0.607000 30 77 0 0 0.0024448 0 0 VIPAS39 63894 broad.mit.edu 37 14 77919703 77919703 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:77919703G>A ENST00000553888.1 - 3 645 c.135C>T c.(133-135)ttC>ttT p.F45F VIPAS39_ENST00000448935.2_Silent_p.F45F|VIPAS39_ENST00000343765.2_Silent_p.F45F|VIPAS39_ENST00000556412.1_Silent_p.F71F|VIPAS39_ENST00000557658.1_Silent_p.F45F|VIPAS39_ENST00000327028.4_Silent_p.F45F NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog CATCATCCACGAAGTCTCGGA 0.537000 93 285 0 0 0.000781405 0 0 MUC5AC 4586 broad.mit.edu 37 11 1156647 1156647 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1156647G>A ENST00000356191.2 + 10 656 c.656G>A c.(655-657)cGa>cAa p.R219Q mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CGTGGTCAGCGAGCTCCTCTC 0.607000 23 26 0 0 0.00047179 0 0 CCDC147 159686 broad.mit.edu 37 10 106118293 106118293 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:106118293T>A ENST00000369704.3 + 2 338 c.204T>A c.(202-204)aaT>aaA p.N68K CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 68 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAGAGCTAAATGCAGAGATTG 0.433000 11 18 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179417696 179417696 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179417696C>T ENST00000589042.1 - 335 90155 c.89931G>A c.(89929-89931)aaG>aaA p.K29977K TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K28336K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.K21037K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.K21104K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.K27409K|TTN_ENST00000460472.2_Silent_p.K20912K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28336 Ig-like 136. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCATGTTCTCTTGGTGGCAT 0.418000 18 21 0 0 0.000958276 0 0 GPR128 84873 broad.mit.edu 37 3 100368606 100368606 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:100368606C>T ENST00000273352.3 + 11 1602 c.1334C>T c.(1333-1335)tCt>tTt p.S445F GPR128_ENST00000475887.1_Missense_Mutation_p.S150F NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 445 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TGTGCACTGTCTGTTACTGGT 0.348000 35 24 0 0 0.00195071 0 0 IGF2R 3482 broad.mit.edu 37 6 160471586 160471586 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:160471586C>T ENST00000356956.1 + 19 2744 c.2596C>T c.(2596-2598)Ctt>Ttt p.L866F NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 866 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CGGCAGCCTCCTTCTGGAATA 0.567000 23 22 0 0 0.000586117 0 0 EPS8L2 64787 broad.mit.edu 37 11 722701 722701 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:722701C>T ENST00000533256.1 + 15 1612 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S EPS8L2_ENST00000530636.1_Missense_Mutation_p.P413S|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.P413S|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P429S Q9H6S3 ES8L2_HUMAN EPS8-like 2 413 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCACAGGTGCCCCTCTACGT 0.692000 5 9 0 0 0.000602214 0 0 ITGAE 3682 broad.mit.edu 37 17 3643113 3643113 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:3643113G>A ENST00000263087.4 - 20 2606 c.2508C>T c.(2506-2508)gcC>gcT p.A836A NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 836 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AGACGGTGGTGGCCAACTGTA 0.537000 44 6 0 0 0.000781405 0 0 ZNF831 128611 broad.mit.edu 37 20 57766491 57766491 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:57766491G>A ENST00000371030.2 + 1 417 c.417G>A c.(415-417)cgG>cgA p.R139R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 139 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCAAGGTGCGGAATGCGGGCA 0.672000 57 30 0 0 0.000781405 0 0 ALMS1 7840 broad.mit.edu 37 2 73677368 73677368 + Silent SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:73677368T>C ENST00000264448.6 + 8 3822 c.3711T>C c.(3709-3711)tcT>tcC p.S1237S ALMS1_ENST00000377715.1_Silent_p.S1237S|ALMS1_ENST00000409009.1_Silent_p.S1195S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1237 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CCTCTGCTTCTTACTCACACA 0.478000 34 41 0 0 0.00209593 0 0 OR10C1 442194 broad.mit.edu 37 6 29408455 29408455 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29408455C>T ENST00000444197.2 + 1 1373 c.663C>T c.(661-663)ctC>ctT p.L221L OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGCGTATCCTCGTTACCATCT 0.592000 70 113 0 0 0.000781405 0 0 POU2F3 25833 broad.mit.edu 37 11 120175796 120175796 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120175796C>T ENST00000260264.4 + 7 542 c.508C>T c.(508-510)Cag>Tag p.Q170* POU2F3_ENST00000543440.2_Nonsense_Mutation_p.Q168* NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 168 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GGAAGCATCCCAGCATCTCCC 0.567000 21 41 0 0 0.00152264 0 0 OR11H12 440153 broad.mit.edu 37 14 19378112 19378112 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:19378112C>T ENST00000550708.1 + 1 591 c.519C>T c.(517-519)atC>atT p.I173I NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGTTCCTGATCCCCATTGTTC 0.483000 15 149 0 0 0.000878237 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218946 134218946 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:134218946C>T ENST00000305233.5 + 2 1001 c.942C>T c.(940-942)ccC>ccT p.P314P PWWP2B_ENST00000368609.4_Silent_p.P314P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 314 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCTCCATCCCCAAGTTGAAAC 0.731000 6 33 0 0 0.00198382 0 0 TPRX1 284355 broad.mit.edu 37 19 48305217 48305217 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:48305217G>A ENST00000535759.1 - 4 1341 c.1342C>T c.(1342-1344)Cct>Tct p.P448S TPRX1_ENST00000322175.3_Missense_Mutation_p.P351S|TPRX1_ENST00000543508.1_Missense_Mutation_p.P341S Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 351 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P351S(1)|p.P351T(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GTGAAGTGAGGGAATAACTGG 0.592000 41 62 0 0 0.0025221 0 0 EPB41 2035 broad.mit.edu 37 1 29338416 29338416 + Missense_Mutation SNP C C T rs144897337 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:29338416C>T ENST00000343067.4 + 5 953 c.826C>T c.(826-828)Cgt>Tgt p.R276C EPB41_ENST00000398863.2_Missense_Mutation_p.R276C|EPB41_ENST00000373797.1_Missense_Mutation_p.R276C|EPB41_ENST00000373798.1_Missense_Mutation_p.R276C|EPB41_ENST00000373800.3_Missense_Mutation_p.R67C|EPB41_ENST00000356093.2_Missense_Mutation_p.R276C|EPB41_ENST00000347529.3_Missense_Mutation_p.R241C|EPB41_ENST00000349460.4_Missense_Mutation_p.R67C NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 276 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AAAGCAGGTTCGTGGTAAGTG 0.393000 50 84 0 0 0.000781405 0 0 MKL1 57591 broad.mit.edu 37 22 40814646 40814646 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:40814646G>A ENST00000396617.3 - 12 2386 c.1796C>T c.(1795-1797)cCc>cTc p.P599L MKL1_ENST00000407029.1_Missense_Mutation_p.P599L|MKL1_ENST00000355630.3_Missense_Mutation_p.P599L|MKL1_ENST00000402042.1_Missense_Mutation_p.P549L Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 599 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 CGCCAGGCTGGGGTTGAATGG 0.711000 T RBM15 acute megakaryocytic leukemia 9 32 0 0 0.000978159 0 0 SCAND3 114821 broad.mit.edu 37 6 28543082 28543082 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28543082C>T ENST00000452236.2 - 3 2017 c.1400G>A c.(1399-1401)tGc>tAc p.C467Y NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 467 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CTGGCTTTGGCAGGTCTGAGA 0.428000 7 32 0 0 0.00198382 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375879 113375879 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:113375879G>A ENST00000316407.4 - 7 5060 c.4650C>T c.(4648-4650)tcC>tcT p.S1550S KIAA2018_ENST00000478658.1_Silent_p.S1550S|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1550 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGCCAGTCTTGGATCGGGATT 0.498000 16 32 0 0 0.00152264 0 0 KIAA1109 84162 broad.mit.edu 37 4 123147970 123147970 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:123147970C>T ENST00000264501.4 + 24 3275 c.2902C>T c.(2902-2904)Cgt>Tgt p.R968C KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R968C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R968C Q2LD37 K1109_HUMAN KIAA1109 968 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 TGGAATTGATCGTCGGTTCTG 0.338000 36 34 0 0 0.000692331 0 0 PSD4 23550 broad.mit.edu 37 2 113940402 113940402 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:113940402G>A ENST00000245796.6 + 2 564 c.369G>A c.(367-369)agG>agA p.R123R PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.R123R NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 123 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGCCCAGAGGGAGCACAGGC 0.612000 11 45 0 0 0.00185496 0 0 TPTE 7179 broad.mit.edu 37 21 10920164 10920164 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:10920164C>T ENST00000298232.7 - 18 1403 c.1035_splice c.e18-1 p.E346_splice TPTE_ENST00000361285.4_Splice_Site_p.E364_splice|TPTE_ENST00000342420.5_Splice_Site_p.E326_splice|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 364 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) TACAGGCTTTCCTACAAAAAA 0.378000 8 53 0 0 0.000157383 0 0 WARS 7453 broad.mit.edu 37 14 100820169 100820169 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:100820169G>A ENST00000355338.2 - 6 1198 c.580C>T c.(580-582)Cag>Tag p.Q194* WARS_ENST00000557135.1_Nonsense_Mutation_p.Q194*|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Nonsense_Mutation_p.Q153*|WARS_ENST00000344102.5_Nonsense_Mutation_p.Q153*|WARS_ENST00000358655.4_Nonsense_Mutation_p.Q153*|WARS_ENST00000392882.2_Nonsense_Mutation_p.Q194*|WARS_ENST00000554084.1_5'UTR NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 194 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TCCGTCATCTGGATGACCAAG 0.537000 28 69 0 0 0.00178596 0 0 HCLS1 3059 broad.mit.edu 37 3 121351017 121351017 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121351017G>A ENST00000314583.3 - 13 1346 c.1255C>T c.(1255-1257)Ccg>Tcg p.P419S HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.P382S NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 419 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) gccccagccGGGCAGCCTGAT 0.527000 12 28 0 0 0.00136819 0 0 GRHL3 57822 broad.mit.edu 37 1 24663621 24663621 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:24663621G>A ENST00000361548.4 + 5 896 c.666G>A c.(664-666)gaG>gaA p.E222E GRHL3_ENST00000342072.4_Silent_p.E129E|GRHL3_ENST00000356046.2_Silent_p.E176E|GRHL3_ENST00000236255.4_Silent_p.E227E|GRHL3_ENST00000350501.5_Silent_p.E222E NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 222 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CATGTCCAGAGGACTACCCCA 0.562000 11 33 0 0 0.00136819 0 0 GAMT 2593 broad.mit.edu 37 19 1397385 1397385 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:1397385C>T ENST00000252288.2 - 6 750 c.684G>A c.(682-684)atG>atA p.M228I NM_000156.5 NP_000147.1 Q14353 GAMT_HUMAN guanidinoacetate N-methyltransferase 228 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1) 6 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) GGGGCGTGATCATCTGTGGGA 0.701000 5 25 0 0 0.000602214 0 0 THSD7A 221981 broad.mit.edu 37 7 11676263 11676263 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:11676263G>A ENST00000423059.3 - 2 767 c.516C>T c.(514-516)atC>atT p.I172I THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 172 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTCACAGATGATATCCTCCG 0.498000 HNSCC(18;0.044) 32 53 0 0 0.00283554 0 0 FAT2 2196 broad.mit.edu 37 5 150946634 150946634 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150946634G>A ENST00000261800.5 - 1 1871 c.1859C>T c.(1858-1860)tCc>tTc p.S620F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 620 Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGTTTGAGGGATATCACTCC 0.418000 41 25 0 0 0.00148497 0 0 SAGE1 55511 broad.mit.edu 37 X 134994479 134994479 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:134994479G>A ENST00000535938.1 + 19 2688 c.e19-1 SAGE1_ENST00000324447.3_Splice_Site|SAGE1_ENST00000370709.3_Splice_Site|SAGE1_ENST00000537770.1_Splice_Site NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 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) AATATCTTCAGATTATGAAAG 0.313000 57 3 0 0 0.000781405 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48606153 48606153 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48606153G>A ENST00000323776.5 + 17 2796 c.2634G>A c.(2632-2634)ggG>ggA p.G878G MYCBPAP_ENST00000436259.2_Silent_p.G841G NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 841 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGCAACTGGGGATCAAAGACA 0.557000 24 14 0 0 0.000586117 0 0 IPCEF1 26034 broad.mit.edu 37 6 154567812 154567812 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:154567812C>T ENST00000265198.4 - 5 311 c.156G>A c.(154-156)aaG>aaA p.K52K IPCEF1_ENST00000519344.1_Silent_p.K24K|IPCEF1_ENST00000367220.4_Silent_p.K53K|IPCEF1_ENST00000422970.2_Silent_p.K53K|OPRM1_ENST00000337049.4_Intron NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 TTCCCTTTTCCTTTTTCTTAT 0.438000 18 24 0 0 0.00152264 0 0 DDX60L 91351 broad.mit.edu 37 4 169351758 169351758 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:169351758G>A ENST00000511577.1 - 13 1795 c.1548C>T c.(1546-1548)ttC>ttT p.F516F DDX60L_ENST00000505890.1_Silent_p.F516F|DDX60L_ENST00000260184.7_Silent_p.F516F Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 516 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TCTTTTTCAGGAAATCAAGAA 0.333000 7 9 0 0 0.00198382 0 0 C1orf210 149466 broad.mit.edu 37 1 43748510 43748510 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:43748510C>T ENST00000523677.1 - 3 521 c.288G>A c.(286-288)caG>caA p.Q96Q C1orf210_ENST00000423420.1_Silent_p.Q96Q NM_001164829.1|NM_182517.2 NP_001158301.1|NP_872323.1 Q8IVY1 CA210_HUMAN chromosome 1 open reading frame 210 96 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGTCCCAGGCTGAATGTAAT 0.602000 25 72 0 0 0.000878237 0 0 MMP12 4321 broad.mit.edu 37 11 102733896 102733896 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:102733896C>T ENST00000532855.1 - 0 1443 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 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) AAGTCATATTCAAATTGGTTA 0.313000 34 32 0 0 0.00148497 0 0 MUC16 94025 broad.mit.edu 37 19 8976641 8976641 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8976641G>A ENST00000397910.4 - 74 42538 c.42335C>T c.(42334-42336)cCc>cTc p.P14112L MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.P753L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14143 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGAACAAGGGTCTGAGCTT 0.567000 14 14 0 0 0.000422831 0 0 RNF17 56163 broad.mit.edu 37 13 25356014 25356014 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:25356014G>A ENST00000255324.5 + 6 595 c.543G>A c.(541-543)gaG>gaA p.E181E RNF17_ENST00000381921.1_Silent_p.E181E|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.E181E NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 181 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAACGATAGAGGAAAGAGAAA 0.308000 10 12 0 0 0.00185496 0 0 GNB5 10681 broad.mit.edu 37 15 52446245 52446245 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:52446245G>A ENST00000261837.7 - 4 332 c.267C>T c.(265-267)gcC>gcT p.A89A GNB5_ENST00000560116.1_Silent_p.A47A|GNB5_ENST00000396335.4_Silent_p.A47A|GNB5_ENST00000358784.7_Silent_p.A47A NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 89 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) ACTGCCCCAGGGCCTCCACCC 0.572000 6 13 0 0 0.00198382 0 0 SCN9A 6335 broad.mit.edu 37 2 167055909 167055909 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:167055909G>A ENST00000375387.4 - 27 5583 c.5243C>T c.(5242-5244)tCc>tTc p.S1748F AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1736F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1748F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1747F Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1747 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AACCAGGAAGGATATGATGAT 0.403000 135 120 0 0 0.000781405 0 0 TSNARE1 203062 broad.mit.edu 37 8 143381912 143381912 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143381912G>A ENST00000519651.1 - 8 671 c.568C>T c.(568-570)Ccg>Tcg p.P190S TSNARE1_ENST00000520166.1_Missense_Mutation_p.P409S|TSNARE1_ENST00000307180.3_Missense_Mutation_p.P409S|TSNARE1_ENST00000524325.1_Missense_Mutation_p.P408S|TSNARE1_ENST00000518928.1_5'UTR Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 409 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGATGTCCGGGAGCAGCGCC 0.632000 15 35 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 9091626 9091626 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9091626G>T ENST00000397910.4 - 1 392 c.189C>A c.(187-189)acC>acA p.T63T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 63 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTGGCCAAGGTCTTATCTG 0.512000 12 55 6.40141e-05 0.000235061 0.000978159 1 0 LY9 4063 broad.mit.edu 37 1 160797565 160797565 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160797565C>T ENST00000263285.5 + 10 1957 c.1927C>T c.(1927-1929)Ctt>Ttt p.L643F LY9_ENST00000368040.1_Missense_Mutation_p.L258F|LY9_ENST00000341032.4_Missense_Mutation_p.L509F|LY9_ENST00000368041.2_Missense_Mutation_p.L514F|LY9_ENST00000368035.1_Missense_Mutation_p.L258F NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 643 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACAGAATGATCTTGAGATTCC 0.473000 58 307 0 0 0.000781405 0 0 KIF25 3834 broad.mit.edu 37 6 168445589 168445589 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:168445589C>T ENST00000443060.2 + 10 1459 c.1068C>T c.(1066-1068)ttC>ttT p.F356F KIF25_ENST00000351261.3_Silent_p.F304F|KIF25_ENST00000354419.2_Silent_p.F356F Q9UIL4 KIF25_HUMAN kinesin family member 25 356 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCCTGGGTTTCGGGATCCGAG 0.562000 29 44 0 0 0.00127121 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767939 31767939 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31767939C>T ENST00000240587.4 - 2 3087 c.2760G>A c.(2758-2760)ggG>ggA p.G920G NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 920 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGATGTACTTCCCTTCTGAGG 0.622000 13 54 0 0 0.00244969 0 0 FBXW8 26259 broad.mit.edu 37 12 117465961 117465961 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:117465961C>T ENST00000455858.2 + 11 1656 c.1583C>T c.(1582-1584)cCc>cTc p.P528L FBXW8_ENST00000309909.5_Missense_Mutation_p.P594L NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 594 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CTGGCCTTTCCCTATAACCAT 0.532000 27 16 0 0 0.00127121 0 0 IP6K1 9807 broad.mit.edu 37 3 49770250 49770250 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49770250G>A ENST00000321599.4 - 4 891 c.590C>T c.(589-591)tCc>tTc p.S197F IP6K1_ENST00000395238.1_Missense_Mutation_p.S32F|IP6K1_ENST00000460540.1_Missense_Mutation_p.S32F|IP6K1_ENST00000468463.1_Missense_Mutation_p.S197F NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 197 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 CTTGGACTCGGAGCGCATGCG 0.557000 11 63 0 0 0.00244969 0 0 RUFY3 22902 broad.mit.edu 37 4 71630223 71630223 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:71630223C>T ENST00000226328.4 + 4 1065 c.502C>T c.(502-504)Cgt>Tgt p.R168C RUFY3_ENST00000502653.1_Missense_Mutation_p.R115C|RUFY3_ENST00000417478.2_Missense_Mutation_p.R228C|RUFY3_ENST00000536664.1_Missense_Mutation_p.R152C|RUFY3_ENST00000381006.3_Missense_Mutation_p.R168C NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 168 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AGCCTGGCTTCGTTTGGCATT 0.368000 27 70 0 0 0.00178596 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209217485 209217485 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:209217485C>T ENST00000264380.4 + 39 5981 c.5823C>T c.(5821-5823)ttC>ttT p.F1941F NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1941 Catalytic.|PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 AAAATCTTTTCTACGGGAGAA 0.393000 43 66 0 0 0.000781405 0 0 SYT6 148281 broad.mit.edu 37 1 114641753 114641753 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:114641753G>A ENST00000393296.1 - 5 1404 c.1327C>T c.(1327-1329)Caa>Taa p.Q443* SYT6_ENST00000369547.1_Nonsense_Mutation_p.Q358* Q5T7P8 SYT6_HUMAN synaptotagmin VI 443 C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCTGACTTGATCCATGTTT 0.493000 38 194 0 0 0.000680045 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532927 84532927 + RNA SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:84532927T>A ENST00000527857.1 + 0 2949 NR_026851.1 CGAAGCACTTTTCAAGGAGAA 0.478000 7 13 0 0 0.00185496 0 0 HCFC1 3054 broad.mit.edu 37 X 153224144 153224144 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153224144G>A ENST00000310441.7 - 10 2645 c.1679C>T c.(1678-1680)cCc>cTc p.P560L HCFC1_ENST00000354233.3_Missense_Mutation_p.P491L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P560L NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 560 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGAGGAAGGGGGGATCTTCTG 0.657000 13 22 0 0 0.00136819 0 0 ATP12A 479 broad.mit.edu 37 13 25280559 25280559 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:25280559C>T ENST00000218548.6 + 15 2478 c.2145C>T c.(2143-2145)tcC>tcT p.S715S ATP12A_ENST00000381946.3_Silent_p.S709S NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 709 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CCCGGACATCCCCCCAGCAGA 0.572000 21 0 0 0 0.00047179 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62688069 62688069 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:62688069C>T ENST00000281156.4 - 4 663 c.385G>A c.(385-387)Gat>Aat p.D129N NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 129 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TGAAGCTCATCACTCAAGTGG 0.373000 9 14 0 0 0.000442599 0 0 C1orf94 84970 broad.mit.edu 37 1 34663286 34663286 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34663286G>A ENST00000488417.1 + 2 901 c.781G>A c.(781-783)Gac>Aac p.D261N C1orf94_ENST00000373374.3_Missense_Mutation_p.D71N NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 71 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GAATGTGCTGGACAAGACAAG 0.552000 18 66 0 0 0.00121646 0 0 NPY1R 4886 broad.mit.edu 37 4 164246778 164246778 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:164246778G>A ENST00000296533.2 - 3 1363 c.832C>T c.(832-834)Cct>Tct p.P278S NPY1R_ENST00000509586.1_Missense_Mutation_p.P35S NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 278 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATGGTAAGAGGGAGCCAGCAG 0.433000 34 15 0 0 0.0024448 0 0 KCNS3 3790 broad.mit.edu 37 2 18112700 18112700 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:18112700C>T ENST00000403915.1 + 3 876 c.425C>T c.(424-426)aCc>aTc p.T142I KCNS3_ENST00000304101.4_Missense_Mutation_p.T142I|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 142 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GATGTGAGTACCGACTCCTCG 0.478000 46 42 0 0 0.0025221 0 0 TTN 7273 broad.mit.edu 37 2 179647612 179647612 + Silent SNP C C T rs147603843 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179647612C>T ENST00000589042.1 - 18 3245 c.3021G>A c.(3019-3021)gcG>gcA p.A1007A TTN_ENST00000360870.5_Silent_p.A1007A|TTN_ENST00000591111.1_Silent_p.A1007A|TTN_ENST00000359218.5_Silent_p.A961A|TTN_ENST00000342175.6_Silent_p.A961A|TTN_ENST00000342992.6_Silent_p.A1007A|TTN_ENST00000460472.2_Silent_p.A961A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1007 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGCTGTCTTCCGCAAATGCTT 0.502000 22 25 0 0 0.00152264 0 0 BANK1 55024 broad.mit.edu 37 4 102946546 102946546 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:102946546C>T ENST00000504592.1 + 13 1847 c.1429C>T c.(1429-1431)Cct>Tct p.P477S BANK1_ENST00000508653.1_Missense_Mutation_p.P359S|BANK1_ENST00000444316.2_Missense_Mutation_p.P462S|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Missense_Mutation_p.P492S|BANK1_ENST00000428908.1_Missense_Mutation_p.P359S|BANK1_ENST00000510950.1_3'UTR Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 492 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TGTGTTCATTCCTGGTGCTGA 0.498000 27 17 0 0 0.000720815 0 0 TAAR1 134864 broad.mit.edu 37 6 132966171 132966171 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:132966171G>A ENST00000275216.1 - 1 971 c.972C>T c.(970-972)ttC>ttT p.F324F NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 324 plasma membrane 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) AATCTTTTTGGAAAATTTTAC 0.299000 6 9 0 0 0.00198382 0 0 BRINP1 1620 broad.mit.edu 37 9 121930399 121930399 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:121930399C>T ENST00000265922.3 - 8 1710 c.1249G>A c.(1249-1251)Ggc>Agc p.G417S DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 417 cell cycle arrest|cell death cytoplasm protein binding 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 GTGGTGCTGCCGTGGCACACG 0.612000 8 16 0 0 0.000274275 0 0 PCM1 5108 broad.mit.edu 37 8 17822259 17822259 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:17822259G>A ENST00000325083.8 + 18 3276 c.2837G>A c.(2836-2838)gGa>gAa p.G946E PCM1_ENST00000524226.1_Missense_Mutation_p.G947E|PCM1_ENST00000519253.1_Missense_Mutation_p.G946E NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 946 G -> R (in Ref. 1; AAA60120). centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TCCTACAATGGAAAGGAAACT 0.383000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 22 28 0 0 0.00278032 0 0 METAP2 10988 broad.mit.edu 37 12 95887837 95887837 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:95887837C>G ENST00000323666.5 + 5 663 c.434C>G c.(433-435)aCa>aGa p.T145R METAP2_ENST00000261220.9_Missense_Mutation_p.T122R|METAP2_ENST00000551840.1_Missense_Mutation_p.T144R|METAP2_ENST00000550777.1_Missense_Mutation_p.T109R|METAP2_ENST00000546753.1_Missense_Mutation_p.T122R NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 145 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) TAAAGGCGAACAGCTGCTTGG 0.373000 29 19 0 0 0.00127121 0 0 COL7A1 1294 broad.mit.edu 37 3 48621382 48621382 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:48621382G>A ENST00000328333.8 - 38 4336 c.4229C>T c.(4228-4230)cCc>cTc p.P1410L COL7A1_ENST00000454817.1_Missense_Mutation_p.P1410L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1410 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity 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) TGGTCCAGGGGGACCCTGGGA 0.647000 11 28 0 0 0.00136819 0 0 UQCC2 84300 broad.mit.edu 37 6 33669180 33669180 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:33669180G>A ENST00000607484.1 - 2 196 c.156C>T c.(154-156)gcC>gcT p.A52A MNF1_ENST00000374214.3_Intron NM_032340.3 NP_115716.1 Q9BRT2 CF125_HUMAN 52 TCTGATCACAGGCCTCAGGCT 0.493000 45 51 0 0 0.000781405 0 0 PCDH18 54510 broad.mit.edu 37 4 138450973 138450973 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:138450973C>T ENST00000344876.4 - 1 2656 c.2270G>A c.(2269-2271)gGg>gAg p.G757E PCDH18_ENST00000412923.2_Missense_Mutation_p.G757E|PCDH18_ENST00000507846.1_Missense_Mutation_p.G537E|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 757 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTGATGTCCCCTTTGTGAAT 0.493000 15 20 0 0 0.000422831 0 0 ABLIM2 84448 broad.mit.edu 37 4 8089972 8089972 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:8089972C>T ENST00000296372.8 - 4 520 c.378G>A c.(376-378)ggG>ggA p.G126G ABLIM2_ENST00000361737.5_Silent_p.G126G|ABLIM2_ENST00000505872.1_Silent_p.G126G|ABLIM2_ENST00000545242.1_Silent_p.G126G|ABLIM2_ENST00000361581.5_Silent_p.G126G|ABLIM2_ENST00000407564.3_Silent_p.G126G|ABLIM2_ENST00000341937.5_Silent_p.G126G|ABLIM2_ENST00000447017.2_Silent_p.G126G|ABLIM2_ENST00000546334.1_Silent_p.G126G|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000428004.2_Silent_p.G126G Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 126 LIM zinc-binding 2. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TGCATTCCTTCCCGTTGAAGG 0.652000 21 7 0 0 0.00047179 0 0 PPL 5493 broad.mit.edu 37 16 4935829 4935829 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:4935829C>T ENST00000345988.2 - 22 2916 c.2827G>A c.(2827-2829)Gat>Aat p.D943N PPL_ENST00000590782.2_Missense_Mutation_p.D941N NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 943 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 AGCACGGGATCCGGCACCTTC 0.607000 21 58 0 0 0.00278032 0 0 DNAH17 8632 broad.mit.edu 37 17 76526534 76526534 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76526534G>A ENST00000389840.5 - 21 3299 c.3175C>T c.(3175-3177)Cac>Tac p.H1059Y DNAH17_ENST00000585328.1_Missense_Mutation_p.H1056Y dynein, axonemal, heavy chain 17 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) AGCCAGCCGTGGAACACCTTG 0.607000 23 100 0 0 0.000878237 0 0 SUPT5H 6829 broad.mit.edu 37 19 39959788 39959788 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:39959788C>T ENST00000599117.1 + 16 1580 c.1213C>T c.(1213-1215)Ctg>Ttg p.L405L SUPT5H_ENST00000432763.2_Silent_p.L405L|SUPT5H_ENST00000359191.6_Silent_p.L401L|SUPT5H_ENST00000402194.2_Silent_p.L401L|SUPT5H_ENST00000598725.1_Silent_p.L405L O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 405 Interaction with RNA polymerase II. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGCATTGACCTGGAGGTGGT 0.597000 17 68 0 0 0.000422831 0 0 AFF2 2334 broad.mit.edu 37 X 148038032 148038032 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:148038032C>T ENST00000370460.2 + 11 2936 c.2457C>T c.(2455-2457)ctC>ctT p.L819L AFF2_ENST00000342251.3_Silent_p.L786L|AFF2_ENST00000286437.5_Silent_p.L460L|AFF2_ENST00000370457.5_Silent_p.L786L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 819 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCTCACTCCATGCAGCAC 0.532000 33 40 0 0 0.00283554 0 0 TTN 7273 broad.mit.edu 37 2 179597422 179597422 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179597422G>A ENST00000589042.1 - 56 16590 c.16366C>T c.(16366-16368)Ccc>Tcc p.P5456S TTN_ENST00000591111.1_Missense_Mutation_p.P5139S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P4212S|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5139 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGAGCCGGGTTTAGTTACA 0.423000 4 18 0 0 0.000602214 0 0 CELF2 10659 broad.mit.edu 37 10 11047405 11047405 + Splice_Site SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:11047405T>A ENST00000379261.4 + 1 145 c.e1+2 CELF2_ENST00000416382.2_Splice_Site NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 GCTTTTAAGGTATGTTGTTGT 0.393000 48 67 0 0 0.000781405 0 0 ACSS3 79611 broad.mit.edu 37 12 81627164 81627164 + Nonsense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81627164G>T ENST00000548058.1 + 13 2543 c.1633G>T c.(1633-1635)Gaa>Taa p.E545* ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E544*|ACSS3_ENST00000548324.1_Nonsense_Mutation_p.E227* Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 545 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTACATGGATGAAGAAGGCTA 0.338000 11 15 9.05144e-12 3.3377e-11 0.00185496 1 0 GRK4 2868 broad.mit.edu 37 4 3015443 3015443 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:3015443G>A ENST00000398052.4 + 8 972 c.629G>A c.(628-630)gGa>gAa p.G210E GRK4_ENST00000398051.4_Missense_Mutation_p.G178E|GRK4_ENST00000345167.6_Missense_Mutation_p.G178E|GRK4_ENST00000504933.1_Missense_Mutation_p.G210E NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 210 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGAGCCACAGGAAAAATGTAT 0.398000 64 174 0 0 0.000781405 0 0 RTN1 6252 broad.mit.edu 37 14 60076840 60076840 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:60076840C>T ENST00000395090.1 - 2 274 c.16_splice c.e2+1 p.A6_splice RTN1_ENST00000342503.4_Intron|RTN1_ENST00000557422.1_Intron|RTN1_ENST00000267484.5_Intron Q16799 RTN1_HUMAN reticulon 1 589 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGCTTTATACCTGGTAGAAAT 0.463000 8 15 0 0 0.000673444 0 0 CDKN1A 1026 broad.mit.edu 37 6 36651888 36651888 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:36651888C>T ENST00000405375.1 + 2 245 c.10C>T c.(10-12)Ccg>Tcg p.P4S CDKN1A_ENST00000373711.2_Missense_Mutation_p.P4S|CDKN1A_ENST00000244741.5_Missense_Mutation_p.P4S|CDKN1A_ENST00000448526.2_Missense_Mutation_p.P38S|CDKN1A_ENST00000478800.1_3'UTR NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 4 P -> L (in dbSNP:rs4986866). cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CATGTCAGAACCGGCTGGGGA 0.632000 6 12 0 0 0.00116845 0 0 BAGE2 85319 broad.mit.edu 37 21 11039034 11039034 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:11039034G>A ENST00000470054.1 - 0 1169 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) TCAATTGTAGGAGTCATTTCA 0.378000 48 128 0 0 0.000781405 0 0 KRT23 25984 broad.mit.edu 37 17 39092815 39092815 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39092815G>A ENST00000209718.3 - 2 465 c.41C>T c.(40-42)tCc>tTc p.S14F KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 14 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) GCCATGGAAGGAGGCCGAGGG 0.687000 24 41 0 0 0.0024448 0 0 MARCH10 162333 broad.mit.edu 37 17 60814507 60814507 + Missense_Mutation SNP C C T rs17853369 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:60814507C>T ENST00000544856.2 - 7 1097 c.719G>A c.(718-720)gGa>gAa p.G240E RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G241E|MARCH10_ENST00000311269.5_Missense_Mutation_p.G241E|MARCH10_ENST00000583600.1_Missense_Mutation_p.G279E Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 241 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 ACTATTTTTTCCTTGGAAGGC 0.532000 40 163 0 0 0.000953801 0 0 MIP 4284 broad.mit.edu 37 12 56847452 56847452 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56847452C>T ENST00000257979.4 - 2 476 c.448G>A c.(448-450)Gac>Aac p.D150N MIP_ENST00000555551.1_5'UTR NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 150 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 CGCCTCTCGTCGTATGTGGCA 0.602000 11 28 0 0 0.00136819 0 0 RPH3A 22895 broad.mit.edu 37 12 113306309 113306309 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113306309G>A ENST00000389385.4 + 8 1016 c.519G>A c.(517-519)aaG>aaA p.K173K RPH3A_ENST00000551052.1_Silent_p.K169K|RPH3A_ENST00000420983.2_Silent_p.K173K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.K173K|RPH3A_ENST00000447659.2_Silent_p.K124K|RPH3A_ENST00000415485.3_Silent_p.K173K|RPH3A_ENST00000548866.1_Silent_p.K124K NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 173 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGCCTATAAAGAAGACCAAGC 0.592000 13 26 0 0 0.00136819 0 0 BBC3 27113 broad.mit.edu 37 19 47725013 47725013 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:47725013G>A ENST00000449228.1 - 4 894 c.731C>T c.(730-732)cCc>cTc p.P244L BBC3_ENST00000300880.7_Missense_Mutation_p.P84L|BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000439096.2_3'UTR NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) AGGTGGGAGGGGCCTGCCCCC 0.711000 9 10 0 0 0.000673444 0 0 SLC17A4 10050 broad.mit.edu 37 6 25776929 25776929 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25776929C>T ENST00000377905.4 + 9 1213 c.1094C>T c.(1093-1095)aCc>aTc p.T365I SLC17A4_ENST00000439485.2_Missense_Mutation_p.T135I|SLC17A4_ENST00000397076.2_Missense_Mutation_p.T135I NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 365 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AGACTCATCACCATCAGGAAA 0.483000 16 31 0 0 0.000422831 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723084 58723084 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:58723084G>A ENST00000300079.5 + 7 636 c.584_splice c.e7-1 p.E196_splice RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Splice_Site_p.E165_splice NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 165 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TGTCTACAGTGAAACTCCCAA 0.428000 11 14 0 0 0.00136819 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6244543 6244543 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6244543C>T ENST00000400104.3 - 6 464 c.264G>A c.(262-264)atG>atA p.M88I L3MBTL4_ENST00000317931.7_Missense_Mutation_p.M88I|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.M88I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.M88I Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 88 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTTCTAATCTCATTCCAATCT 0.413000 43 201 0 0 0.000781405 0 0 PDGFRA 5156 broad.mit.edu 37 4 55129979 55129979 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:55129979C>T ENST00000257290.5 + 4 844 c.513C>T c.(511-513)tcC>tcT p.S171S PDGFRA_ENST00000508170.1_Silent_p.S171S|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 171 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TACCTGCCTCCTACGACAGCA 0.502000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 12 41 0 0 0.00136819 0 0 MUC5AC 4586 broad.mit.edu 37 11 1156224 1156224 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1156224G>A ENST00000356191.2 + 7 545 c.545G>A c.(544-546)tGg>tAg p.W182* mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) AGGCCAGGCTGGGCCTTGTCC 0.662000 15 23 0 0 0.000422831 0 0 ISX 91464 broad.mit.edu 37 22 35478517 35478517 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:35478517G>A ENST00000308700.6 + 2 1188 c.236G>A c.(235-237)aGg>aAg p.R79K ISX_ENST00000404699.2_Missense_Mutation_p.R79K NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 79 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCAGAAGGAAGGAAGAGCAAG 0.552000 42 123 0 0 0.000680045 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525557 176525557 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:176525557C>A ENST00000367662.3 + 2 1263 c.99C>A c.(97-99)tcC>tcA p.S33S PAPPA2_ENST00000367661.3_Silent_p.S33S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 33 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding 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 GCAAGAAATCCTTGGTTGAGA 0.527000 52 79 2.29192e-23 8.48711e-23 0.000781405 1 0 CYP2B7P 1556 broad.mit.edu 37 19 41442133 41442133 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41442133C>T ENST00000599198.1 + 0 357 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GGGGAAAAATCGTCATCATGG 0.612000 19 19 0 0 0.00229938 0 0 CATSPERG 57828 broad.mit.edu 37 19 38845361 38845361 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:38845361C>T ENST00000409235.3 + 9 1124 c.1009C>T c.(1009-1011)Cgt>Tgt p.R337C CATSPERG_ENST00000215069.4_Missense_Mutation_p.R350C|CATSPERG_ENST00000410018.1_Missense_Mutation_p.R337C NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 337 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CAGTTGGATTCGTGTCCTGGC 0.567000 26 87 0 0 0.000720815 0 0 SRBD1 55133 broad.mit.edu 37 2 45645518 45645518 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:45645518G>A ENST00000263736.4 - 18 2381 c.2319C>T c.(2317-2319)atC>atT p.I773I SRBD1_ENST00000535761.1_Silent_p.I292I|SRBD1_ENST00000490133.1_5'UTR NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 773 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AAAACGTTCGGATATAATCCT 0.413000 27 85 0 0 0.000692331 0 0 SCMH1 22955 broad.mit.edu 37 1 41494270 41494270 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:41494270G>A ENST00000402904.2 - 15 2211 c.1843C>T c.(1843-1845)Ctg>Ttg p.L615L SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000456518.2_Silent_p.L435L|SCMH1_ENST00000372597.1_Silent_p.L546L|SCMH1_ENST00000337495.5_Silent_p.L603L|SCMH1_ENST00000361705.3_Silent_p.L546L|SCMH1_ENST00000361191.5_Silent_p.L532L|SCMH1_ENST00000372596.1_Silent_p.L532L|SCMH1_ENST00000326197.7_Silent_p.L615L|SCMH1_ENST00000372595.1_Silent_p.L554L|SCMH1_ENST00000397171.2_Silent_p.L532L|SCMH1_ENST00000397174.2_Silent_p.L573L NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 615 SAM. anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) TTGCGAAACAGGTCAGCGTGG 0.587000 32 109 0 0 0.00058488 0 0 EP400 57634 broad.mit.edu 37 12 132546845 132546845 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:132546845C>T ENST00000333577.4 + 47 8292 c.8183C>T c.(8182-8184)tCt>tTt p.S2728F EP400_ENST00000330386.6_Missense_Mutation_p.S2611F|EP400_ENST00000389562.2_Missense_Mutation_p.S2691F|EP400_ENST00000389561.2_Missense_Mutation_p.S2692F|EP400_ENST00000332482.4_Missense_Mutation_p.S2655F Q96L91 EP400_HUMAN E1A binding protein p400 2728 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCGGCACGGTCTTTGGTGCCC 0.617000 18 36 0 0 0.00074312 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127354 45127354 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45127354G>A ENST00000575173.1 - 0 418 GAACACCCAAGGTCAAAAAGA 0.433000 58 457 0 0 0.000781405 0 0 COLEC10 10584 broad.mit.edu 37 8 120114604 120114604 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:120114604G>A ENST00000332843.2 + 4 351 c.310G>A c.(310-312)Ggt>Agt p.G104S COLEC10_ENST00000521788.1_3'UTR NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 104 Collagen-like. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) AGGGGAAAAAGGTTTGCTTGG 0.323000 6 20 0 0 0.000673444 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542517 21542517 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:21542517C>T ENST00000298694.4 + 3 755 c.628C>T c.(628-630)Cca>Tca p.P210S ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P210S Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 210 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CTCTGGACCTCCAGGGCTTCC 0.617000 7 12 0 0 0.00198382 0 0 KRT82 3888 broad.mit.edu 37 12 52794341 52794341 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52794341C>G ENST00000257974.2 - 4 824 c.747G>C c.(745-747)gaG>gaC p.E249D RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 249 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GGAAGTCGATCTCCTGCACGA 0.592000 18 60 0 0 0.00188189 0 0 LPPR1 54886 broad.mit.edu 37 9 104032222 104032222 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104032222C>T ENST00000374874.3 + 3 563 c.124C>T c.(124-126)Cag>Tag p.Q42* LPPR1_ENST00000395056.2_Nonsense_Mutation_p.Q42* NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 42 integral to membrane catalytic activity TGACACTTTTCAGGTGCATAT 0.493000 20 75 0 0 0.00188189 0 0 ABCC6 368 broad.mit.edu 37 16 16315560 16315560 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:16315560G>A ENST00000205557.7 - 2 194 c.165C>T c.(163-165)atC>atT p.I55I ABCC6_ENST00000574094.1_5'UTR|ABCC6_ENST00000575728.1_Silent_p.I55I NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 55 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CATGGTGGTGGATGAAGAGGA 0.617000 8 22 0 0 0.000978159 0 0 COL15A1 1306 broad.mit.edu 37 9 101748019 101748019 + Silent SNP C C T rs141708640 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:101748019C>T ENST00000375001.3 + 3 696 c.273C>T c.(271-273)ttC>ttT p.F91F NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 91 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCAGGGACTTCGCCATCAGCG 0.622000 15 36 0 0 0.000566183 0 0 ATAD3C 219293 broad.mit.edu 37 1 1403781 1403781 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:1403781C>T ENST00000378785.2 + 12 2102 c.1107C>T c.(1105-1107)tcC>tcT p.S369S NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 369 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGTATGCCTCCAAGGACGGGG 0.667000 6 67 0 0 0.000442599 0 0 P4HTM 54681 broad.mit.edu 37 3 49043268 49043268 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49043268C>T ENST00000343546.4 + 7 1683 c.1315C>T c.(1315-1317)Cct>Tct p.P439S P4HTM_ENST00000383729.4_Missense_Mutation_p.P378S NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 378 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) GACTGTTTTCCCTGTAGCAGA 0.512000 53 177 0 0 0.000781405 0 0 SULF2 55959 broad.mit.edu 37 20 46313184 46313184 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:46313184G>A ENST00000359930.4 - 6 1730 c.879C>T c.(877-879)tcC>tcT p.S293S CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.S293S|SULF2_ENST00000484875.1_Silent_p.S293S|SULF2_ENST00000467815.1_Silent_p.S293S NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 293 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CCGTCTCCATGGAGTCGTCCA 0.637000 22 8 0 0 0.000878237 0 0 CLRN2 645104 broad.mit.edu 37 4 17528501 17528501 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:17528501G>A ENST00000511148.2 + 3 597 c.495G>A c.(493-495)acG>acA p.T165T NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 165 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 ACGACCTGACGGAACGAATCG 0.547000 22 51 0 0 0.00188189 0 0 TENM2 57451 broad.mit.edu 37 5 167674098 167674098 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:167674098G>A ENST00000519204.1 + 26 5909 c.5791G>A c.(5791-5793)Gtc>Atc p.V1931I TENM2_ENST00000403607.2_Missense_Mutation_p.V1876I|TENM2_ENST00000545108.1_Missense_Mutation_p.V2051I|TENM2_ENST00000520394.1_Missense_Mutation_p.V1813I|TENM2_ENST00000518659.1_Missense_Mutation_p.V2052I teneurin transmembrane protein 2 CTTGAAGATGGTCAACCTCCA 0.527000 37 26 0 0 0.000953801 0 0 DCN 1634 broad.mit.edu 37 12 91572209 91572209 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:91572209G>A ENST00000551354.1 - 2 325 c.121C>T c.(121-123)Cct>Tct p.P41S DCN_ENST00000550099.1_Missense_Mutation_p.P41S|DCN_ENST00000052754.5_Missense_Mutation_p.P41S|DCN_ENST00000546745.1_Missense_Mutation_p.P41S|DCN_ENST00000552962.1_Missense_Mutation_p.P41S|DCN_ENST00000441303.2_Missense_Mutation_p.P41S|DCN_ENST00000393155.1_Missense_Mutation_p.P41S|DCN_ENST00000547568.2_Missense_Mutation_p.P41S|DCN_ENST00000303320.3_Missense_Mutation_p.P41S|DCN_ENST00000425043.1_Missense_Mutation_p.P41S|DCN_ENST00000420120.2_Missense_Mutation_p.P41S|DCN_ENST00000456569.2_Missense_Mutation_p.P41S|DCN_ENST00000546370.1_Missense_Mutation_p.P41S|DCN_ENST00000228329.5_Missense_Mutation_p.P41S P07585 PGS2_HUMAN decorin 41 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 CGGTCATCAGGAACTTCTGGG 0.537000 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 26 0 0 0.00283554 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49362808 49362808 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49362808G>A ENST00000263265.6 - 7 1165 c.610C>T c.(610-612)Cgt>Tgt p.R204C PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R204C|PLEKHA4_ENST00000596713.1_5'UTR NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 204 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGTCTACCACGACCTCTGGAG 0.677000 33 33 0 0 0.000953801 0 0 AP3B1 8546 broad.mit.edu 37 5 77385277 77385277 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:77385277A>C ENST00000255194.6 - 22 2692 c.2517T>G c.(2515-2517)tcT>tcG p.S839S AP3B1_ENST00000519295.1_Silent_p.S790S NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 839 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TCAAACTTGGAGAAAGAGCTG 0.383000 Hermansky-Pudlak syndrome 9 20 0 0 0.00185496 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77359872 77359872 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:77359872G>A ENST00000282849.5 - 13 2341 c.1923C>T c.(1921-1923)aaC>aaT p.N641N NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 641 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N641N(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CATTGCAAGGGTTAATATTGC 0.393000 9 19 0 0 0.000274275 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236409 103236409 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:103236409G>A ENST00000233969.2 + 1 244 c.102G>A c.(100-102)gaG>gaA p.E34E NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 34 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 cCCTGGCGGAGACCTTGCTGA 0.711000 10 7 0 0 0.000673444 0 0 BBS4 585 broad.mit.edu 37 15 73002052 73002052 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:73002052C>T ENST00000268057.4 + 3 129 c.88C>T c.(88-90)Cct>Tct p.P30S BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.P18S|BBS4_ENST00000395205.2_Missense_Mutation_p.P38S NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 30 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TCCAGAGTTTCCTATTTTGGA 0.358000 Bardet-Biedl syndrome 43 82 0 0 0.000781405 0 0 ASB13 79754 broad.mit.edu 37 10 5683848 5683848 + Silent SNP G G A rs61756319 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:5683848G>A ENST00000357700.6 - 5 620 c.594C>T c.(592-594)atC>atT p.I198I ASB13_ENST00000479033.1_5'UTR NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 198 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) TAAGCATCTCGATGAGGTCAA 0.582000 24 24 0 0 0.00178596 0 0 SZRD1 26099 broad.mit.edu 37 1 16721659 16721659 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16721659C>T ENST00000375590.3 + 4 395 c.373C>T c.(373-375)Cgt>Tgt p.R125C SZRD1_ENST00000401088.4_3'UTR|SZRD1_ENST00000471507.1_3'UTR|SZRD1_ENST00000401089.3_3'UTR|SZRD1_ENST00000492354.1_3'UTR|SZRD1_ENST00000472461.1_3'UTR SUZ RNA binding domain containing 1 AAGATGCCGCCGTTGCTGCCG 0.572000 5 22 0 0 0.00116845 0 0 SEC23IP 11196 broad.mit.edu 37 10 121675306 121675306 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:121675306C>T ENST00000369075.3 + 8 1521 c.1449C>T c.(1447-1449)ttC>ttT p.F483F SEC23IP_ENST00000543134.1_Silent_p.F272F NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 483 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GGACACATTTCAAGAAATCTT 0.398000 24 79 0 0 0.00047179 0 0 KLHL4 56062 broad.mit.edu 37 X 86888766 86888766 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:86888766G>A ENST00000373119.4 + 8 1712 c.1567G>A c.(1567-1569)Gga>Aga p.G523R KLHL4_ENST00000373114.4_Missense_Mutation_p.G523R NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 523 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CACTCTTGAAGGACCAATGTA 0.403000 13 19 0 0 0.000422831 0 0 MRPS24 64951 broad.mit.edu 37 7 43906562 43906562 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:43906562G>A ENST00000317534.5 - 4 301 c.240C>T c.(238-240)gaC>gaT p.D80D MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR NM_032014.2 NP_114403.1 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 80 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 CTGCGGCATGGTCCTCTCCAT 0.552000 60 15 0 0 0.000781405 0 0 ABCB4 5244 broad.mit.edu 37 7 87032569 87032569 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:87032569C>T ENST00000265723.4 - 27 3647 c.3536G>A c.(3535-3537)gGg>gAg p.G1179E ABCB4_ENST00000359206.3_Missense_Mutation_p.G1172E|ABCB4_ENST00000358400.3_Missense_Mutation_p.G1125E|ABCB4_ENST00000545634.1_Missense_Mutation_p.G1172E|ABCB4_ENST00000453593.1_Missense_Mutation_p.G1125E NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1179 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GAGCTGAGTCCCCTTATCTCC 0.408000 36 88 0 0 0.00128727 0 0 CPA3 1359 broad.mit.edu 37 3 148601524 148601524 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:148601524C>T ENST00000296046.3 + 9 955 c.903C>T c.(901-903)atC>atT p.I301I RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 301 I -> T (in Ref. 5; AAB22578). proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) AGGTTTACATCACCTTCCATT 0.438000 15 35 0 0 0.000566183 0 0 FAM135B 51059 broad.mit.edu 37 8 139164728 139164728 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:139164728C>T ENST00000395297.1 - 13 2160 c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 664 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) TCCTGCTCTTCTGTGTGAGAG 0.507000 HNSCC(54;0.14) 19 74 0 0 0.00121646 0 0 ABCA2 20 broad.mit.edu 37 9 139915991 139915991 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:139915991G>A ENST00000265662.5 - 8 897 c.750C>T c.(748-750)atC>atT p.I250I ABCA2_ENST00000341511.6_Silent_p.I250I|ABCA2_ENST00000371605.3_Silent_p.I249I|ABCA2_ENST00000492260.1_5'UTR Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 249 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCACAGTGAGGATCCGGCCCA 0.697000 4 5 0 0 0.000602214 0 0 NPC1L1 29881 broad.mit.edu 37 7 44561837 44561837 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:44561837G>A ENST00000289547.4 - 11 2697 c.2642C>T c.(2641-2643)tCg>tTg p.S881L NPC1L1_ENST00000381160.3_Missense_Mutation_p.S881L|NPC1L1_ENST00000546276.1_Intron NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 881 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AAGCAGGTACGAGTCCTAGGA 0.542000 24 2 0 0 0.00047179 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830201 23830201 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:23830201C>T ENST00000264867.2 - 5 698 c.579G>A c.(577-579)gcG>gcA p.A193A PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 193 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AAATACTCTTCGCTTTATTGC 0.413000 26 22 0 0 0.00127121 0 0 ZNF638 27332 broad.mit.edu 37 2 71655768 71655768 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71655768C>T ENST00000409544.1 + 25 6267 c.5637C>T c.(5635-5637)ttC>ttT p.F1879F ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Silent_p.F1879F|ZNF638_ENST00000409407.1_Silent_p.F819F NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1879 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAGAGGCCTTCCAGATGAGTG 0.388000 43 105 0 0 0.00195071 0 0 UBXN2B 137886 broad.mit.edu 37 8 59352256 59352256 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:59352256C>T ENST00000399598.2 + 6 720 c.598C>T c.(598-600)Cat>Tat p.H200Y NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 200 SEP. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 TATGGAGGATCATCAGGATCA 0.383000 27 55 0 0 0.000878237 0 0 IGLV7-43 28776 broad.mit.edu 37 22 22749647 22749647 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:22749647C>T ENST00000390298.2 + 0 205 CAAACTGGTTCCAGCAGAAAC 0.567000 9 38 0 0 0.000274275 0 0 FRMD7 90167 broad.mit.edu 37 X 131212788 131212788 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:131212788C>T ENST00000298542.4 - 12 1432 c.1257G>A c.(1255-1257)atG>atA p.M419I FRMD7_ENST00000370879.1_Missense_Mutation_p.M299I|FRMD7_ENST00000464296.1_Missense_Mutation_p.M404I NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 419 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding 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) AGACAGGGTCCATATAAATAA 0.448000 100 3 0 0 0.000781405 0 0 ATXN1 6310 broad.mit.edu 37 6 16327105 16327105 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:16327105G>A ENST00000244769.4 - 8 2373 c.1437C>T c.(1435-1437)ccC>ccT p.P479P ATXN1_ENST00000436367.1_Silent_p.P479P NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 479 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCAGGTGCTGGGGCAGGCTGC 0.672000 48 151 0 0 0.000781405 0 0 OR4A15 81328 broad.mit.edu 37 11 55136139 55136139 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55136139G>A ENST00000314706.3 + 1 780 c.780G>A c.(778-780)ggG>ggA p.G260G NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GTTTGGAAGGGAAACGAAAAG 0.433000 16 11 0 0 0.000308642 0 0 CACNA1E 777 broad.mit.edu 37 1 181726091 181726091 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181726091G>A ENST00000526775.1 + 29 4266 c.4101G>A c.(4099-4101)gaG>gaA p.E1367E CACNA1E_ENST00000357570.5_Silent_p.E1337E|CACNA1E_ENST00000367570.1_Silent_p.E1386E|CACNA1E_ENST00000360108.3_Silent_p.E1367E|CACNA1E_ENST00000367573.2_Silent_p.E1386E|CACNA1E_ENST00000358338.5_Silent_p.E1318E|CACNA1E_ENST00000367567.4_Silent_p.E993E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1386 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATGTGACAGAGGAAGACCGAG 0.488000 45 124 0 0 0.000781405 0 0 ASPM 259266 broad.mit.edu 37 1 197111575 197111575 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:197111575G>A ENST00000367409.4 - 3 2063 c.1807C>T c.(1807-1809)Cat>Tat p.H603Y ASPM_ENST00000294732.7_Missense_Mutation_p.H603Y NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 603 mitosis cytoplasm|nucleus calmodulin binding 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 GGAGAAAAATGGATTCTTTTG 0.378000 37 203 0 0 0.000953801 0 0 DAW1 164781 broad.mit.edu 37 2 228758545 228758545 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:228758545C>T ENST00000373666.2 + 5 988 c.352C>T c.(352-354)Ctc>Ttc p.L118F DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.L103F|DAW1_ENST00000309931.2_Missense_Mutation_p.L118F dynein assembly factor with WDR repeat domains 1 GACGTGCAAGCTCTGGGACAC 0.468000 12 60 0 0 0.00244969 0 0 ZNF99 7652 broad.mit.edu 37 19 22940868 22940868 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:22940868G>A ENST00000397104.3 - 5 1569 c.1570C>T c.(1570-1572)Cat>Tat p.H524Y ZNF99_ENST00000596209.1_Missense_Mutation_p.H615Y zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTCCAGTATGAATTATCTGA 0.383000 9 16 0 0 0.000673444 0 0 SLC28A3 64078 broad.mit.edu 37 9 86894981 86894981 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:86894981C>T ENST00000376238.4 - 16 1786 c.1737G>A c.(1735-1737)atG>atA p.M579I RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.M510I NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 579 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TGGAAGGAGCCATGGATGCTG 0.532000 8 19 0 0 0.000274275 0 0 DIAPH1 1729 broad.mit.edu 37 5 140953720 140953720 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140953720G>A ENST00000253811.6 - 16 1837 c.1697C>T c.(1696-1698)tCt>tTt p.S566F DIAPH1_ENST00000398557.4_Missense_Mutation_p.S566F|DIAPH1_ENST00000398566.3_Missense_Mutation_p.S557F|DIAPH1_ENST00000389054.3_Missense_Mutation_p.S566F|DIAPH1_ENST00000398562.2_Missense_Mutation_p.S557F|DIAPH1_ENST00000518047.1_Missense_Mutation_p.S557F|DIAPH1_ENST00000520569.1_Missense_Mutation_p.S512F|DIAPH1_ENST00000389057.5_Missense_Mutation_p.S557F O60610 DIAP1_HUMAN diaphanous-related formin 1 566 regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGCCGCAGAGAGGGAAGC 0.498000 20 31 0 0 0.00278032 0 0 FAT4 79633 broad.mit.edu 37 4 126373056 126373056 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:126373056C>T ENST00000394329.3 + 9 10898 c.10885C>T c.(10885-10887)Ccc>Tcc p.P3629S FAT4_ENST00000335110.5_Missense_Mutation_p.P1927S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3629 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAACTTGTTTCCCGGTGGGAT 0.443000 25 16 0 0 0.000878237 0 0 STAC 6769 broad.mit.edu 37 3 36570432 36570432 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:36570432C>T ENST00000273183.3 + 10 1365 c.1065C>T c.(1063-1065)ttC>ttT p.F355F STAC_ENST00000457375.2_Silent_p.F294F NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 355 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TTAGAACCTTCATTGGGTGTA 0.393000 9 34 0 0 0.000274275 0 0 HP1BP3 50809 broad.mit.edu 37 1 21103228 21103228 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21103228G>A ENST00000312239.5 - 4 351 c.212C>T c.(211-213)tCa>tTa p.S71L HP1BP3_ENST00000375000.1_Missense_Mutation_p.S71L|HP1BP3_ENST00000487117.1_5'UTR NM_016287.3 NP_057371.2 Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 71 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) AGATTCCTCTGAACTTATGTC 0.413000 31 122 0 0 0.00283554 0 0 SGSM1 129049 broad.mit.edu 37 22 25294507 25294507 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:25294507C>T ENST00000400358.4 + 19 2648 c.2591C>T c.(2590-2592)tCc>tTc p.S864F SGSM1_ENST00000400359.4_Missense_Mutation_p.S919F NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 919 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CCTGTGTCTTCCAGCGGCGTC 0.557000 126 59 0 0 0.000781405 0 0 TTC18 118491 broad.mit.edu 37 10 75037095 75037095 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:75037095G>A ENST00000401621.2 - 22 2753 c.2633C>T c.(2632-2634)tCa>tTa p.S878L TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.S878L|TTC18_ENST00000355577.3_Missense_Mutation_p.S347L|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.S878L Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 878 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CAGAAGAGCTGATGAATCTTG 0.388000 25 36 0 0 0.000586117 0 0 OR8D2 283160 broad.mit.edu 37 11 124189886 124189886 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124189886C>T ENST00000357438.2 - 1 298 c.208G>A c.(208-210)Gat>Aat p.D70N NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TAGCAGAGATCAATGAAAGAC 0.413000 9 9 0 0 0.000442599 0 0 EVPL 2125 broad.mit.edu 37 17 74015056 74015056 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:74015056C>T ENST00000301607.3 - 11 1476 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q EVPL_ENST00000586740.1_Missense_Mutation_p.R408Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 408 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGGTTTCTTCGCTGTGGCAG 0.682000 10 30 0 0 0.000673444 0 0 RGS11 8786 broad.mit.edu 37 16 320987 320987 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:320987G>A ENST00000397770.3 - 13 992 c.975C>T c.(973-975)ttC>ttT p.F325F RGS11_ENST00000316163.5_Silent_p.F304F|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.F314F O94810 RGS11_HUMAN regulator of G-protein signaling 11 325 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TCTCACCACTGAACTCCTTTC 0.677000 13 12 0 0 0.000308642 0 0 CNGB1 1258 broad.mit.edu 37 16 57965772 57965772 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:57965772C>T ENST00000564448.1 - 17 1425 c.1365G>A c.(1363-1365)acG>acA p.T455T CNGB1_ENST00000251102.8_Silent_p.T461T|CNGB1_ENST00000564654.1_5'UTR Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 461 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGTGCTGTTTCGTGGCAGGCA 0.547000 20 29 0 0 0.00278032 0 0 TAF1L 138474 broad.mit.edu 37 9 32633142 32633142 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:32633142C>T ENST00000242310.4 - 1 2525 c.2436G>A c.(2434-2436)ggG>ggA p.G812G NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 812 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGGAGTTAGGCCCAGGAACTT 0.438000 39 27 0 0 0.00195071 0 0 PADI1 29943 broad.mit.edu 37 1 17548886 17548886 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:17548886A>T ENST00000375471.4 + 2 286 c.194A>T c.(193-195)aAg>aTg p.K65M NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 65 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CCCATAGGCAAGGCCCGTTGG 0.542000 35 164 0 0 0.00148497 0 0 ALPPL2 251 broad.mit.edu 37 2 233274158 233274158 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:233274158G>A ENST00000295453.3 + 10 1352 c.1300_splice c.e10+1 p.G434_splice NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 434 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GAGCGAGAGCGGTGAGTGCCG 0.662000 4 6 0 0 0.00116845 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420946 105420946 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105420946G>A ENST00000333244.5 - 7 961 c.842C>T c.(841-843)tCg>tTg p.S281L NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 281 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCTCTGACGAGCTGTGTGA 0.612000 24 6 0 0 0.000586117 0 0 DHRS7 51635 broad.mit.edu 37 14 60620752 60620752 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:60620752A>G ENST00000216500.5 - 4 773 c.318T>C c.(316-318)ctT>ctC p.L106L PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.L106L|DHRS7_ENST00000536410.2_Silent_p.L56L|PCNXL4_ENST00000406949.1_Intron Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 106 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) GGGGCAAAACAAGTATATCTT 0.398000 35 26 0 0 0.00195071 0 0 CBLC 23624 broad.mit.edu 37 19 45281499 45281499 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:45281499G>A ENST00000270279.3 + 1 374 c.311G>A c.(310-312)aGg>aAg p.R104K CBLC_ENST00000341505.4_Missense_Mutation_p.R104K NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 104 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CGGGGCCGAAGGAGTGCCAAC 0.672000 M AML 63 119 0 0 0.000781405 0 0 AADACL4 343066 broad.mit.edu 37 1 12711266 12711266 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12711266C>T ENST00000376221.1 + 2 293 c.293C>T c.(292-294)cCc>cTc p.P98L NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 98 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGGACGATACCCGTGAGGCTG 0.522000 17 61 0 0 0.000958276 0 0 CYP2C19 1557 broad.mit.edu 37 10 96609702 96609702 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96609702C>T ENST00000371321.3 + 8 1260 c.1178C>T c.(1177-1179)tCt>tTt p.S393F CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 393 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCCCTCACTTCTGTGCTACAT 0.398000 23 23 0 0 0.000586117 0 0 ATP4A 495 broad.mit.edu 37 19 36050865 36050865 + Missense_Mutation SNP C C T rs140861099 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:36050865C>T ENST00000262623.3 - 7 926 c.898G>A c.(898-900)Gag>Aag p.E300K NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 300 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACAAAATGCTCGATCTCGATA 0.582000 15 86 0 0 0.000566183 0 0 PIPSL 266971 broad.mit.edu 37 10 95720783 95720783 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:95720783C>T ENST00000480546.1 - 0 514 NR_002319.2 ACCACTAGCTCCAGAGCTACA 0.502000 15 14 0 0 0.00244969 0 0 SPAM1 6677 broad.mit.edu 37 7 123595075 123595075 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:123595075G>A ENST00000340011.5 + 4 1336 c.979G>A c.(979-981)Gaa>Aaa p.E327K SPAM1_ENST00000439500.1_Missense_Mutation_p.E327K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E327K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E327K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E327K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 327 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.E327K(2) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TACATTTGGCGAAACTGTTGC 0.373000 27 22 0 0 0.000878237 0 0 LIG3 3980 broad.mit.edu 37 17 33321311 33321311 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33321311C>G ENST00000378526.4 + 9 1605 c.1472C>G c.(1471-1473)tCc>tGc p.S491C LIG3_ENST00000262327.5_Missense_Mutation_p.S491C NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 491 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) GCCTGCAAGTCCGTTGAGTAT 0.527000 Other BER factors 20 72 0 0 0.00188189 0 0 EMR2 30817 broad.mit.edu 37 19 14862260 14862260 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:14862260C>T ENST00000315576.3 - 16 2463 c.2012G>A c.(2011-2013)gGa>gAa p.G671E EMR2_ENST00000595839.1_Missense_Mutation_p.G529E|EMR2_ENST00000392965.3_Missense_Mutation_p.G613E|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.G622E|EMR2_ENST00000596991.2_Missense_Mutation_p.G660E|EMR2_ENST00000353876.1_Missense_Mutation_p.G578E|EMR2_ENST00000601345.1_Missense_Mutation_p.G660E|EMR2_ENST00000594076.1_Missense_Mutation_p.G578E|EMR2_ENST00000594294.1_Missense_Mutation_p.G622E|EMR2_ENST00000392967.2_Missense_Mutation_p.G660E|EMR2_ENST00000353005.1_Missense_Mutation_p.G529E NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 671 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GGAAGGTGTTCCATAAAGGTG 0.483000 23 89 0 0 0.000586117 0 0 GPR116 221395 broad.mit.edu 37 6 46849839 46849839 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:46849839C>T ENST00000283296.7 - 7 906 c.618G>A c.(616-618)cgG>cgA p.R206R GPR116_ENST00000456426.2_Silent_p.R206R|GPR116_ENST00000362015.4_Silent_p.R206R|GPR116_ENST00000265417.7_Silent_p.R206R NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 206 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CGTAACCCTTCCGGAACTGAA 0.368000 30 44 0 0 0.00209593 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519909 113519909 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:113519909C>T ENST00000284601.3 - 4 1306 c.1238G>A c.(1237-1239)gGa>gAa p.G413E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 413 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTTGATTTCTCCCATATTTGA 0.403000 15 57 0 0 0.00074312 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378693 114378693 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:114378693G>A ENST00000312719.5 - 5 1957 c.769C>T c.(769-771)Cgc>Tgc p.R257C HS3ST5_ENST00000411826.1_Missense_Mutation_p.R257C|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 257 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTGATGAGGCGATCTCCATCG 0.423000 23 28 0 0 0.00278032 0 0 WNK2 65268 broad.mit.edu 37 9 96019389 96019389 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:96019389C>T ENST00000297954.4 + 10 2350 c.2350C>T c.(2350-2352)Ccc>Tcc p.P784S WNK2_ENST00000395477.2_Missense_Mutation_p.P784S|WNK2_ENST00000395475.2_Missense_Mutation_p.P718S|WNK2_ENST00000427277.2_Missense_Mutation_p.P396S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P396S Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 784 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GCCACAGGCGCCCCTGCAGCC 0.687000 9 44 0 0 0.00136819 0 0 SV2A 9900 broad.mit.edu 37 1 149885275 149885275 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149885275C>T ENST00000369146.3 - 2 608 c.118G>A c.(118-120)Gaa>Aaa p.E40K SV2A_ENST00000369145.1_Missense_Mutation_p.E40K NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 40 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CGGGAATATTCGTCCTGGACT 0.537000 19 119 0 0 0.000958276 0 0 SYT15 83849 broad.mit.edu 37 10 46967500 46967500 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46967500C>T ENST00000374323.3 - 3 1323 c.736G>A c.(736-738)Gag>Aag p.E246K SYT15_ENST00000374321.4_Missense_Mutation_p.E193K|SYT15_ENST00000503753.1_Missense_Mutation_p.E193K|SYT15_ENST00000374325.3_Missense_Mutation_p.E193K Q9BQS2 SYT15_HUMAN synaptotagmin XV 193 C2 1. Q -> R (in Ref. 2; BAC85479). integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AAGCGCCGCTCATCGGGCAGC 0.612000 15 100 0 0 0.000308642 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12924217 12924217 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12924217C>T ENST00000221486.4 + 8 931 c.837C>T c.(835-837)gcC>gcT p.A279A NM_006397.2 NP_006388.2 O75792 RNH2A_HUMAN ribonuclease H2, subunit A 279 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex metal ion binding|ribonuclease H activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 GGTCCCAAGCCCGTCCCCGTT 0.582000 19 42 0 0 0.00152264 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35972511 35972511 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35972511G>A ENST00000325722.3 - 3 602 c.368C>T c.(367-369)tCc>tTc p.S123F NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 123 MANSC. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGAATTGGAGGAGTGTGTCCT 0.502000 28 101 0 0 0.00106085 0 0 MOB3C 148932 broad.mit.edu 37 1 47080746 47080746 + Translation_Start_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47080746C>T ENST00000271139.8 - 1 59 c.3G>A c.(1-3)atG>atA p.M1I MOB3C_ENST00000371940.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000319928.3_Intron|MOB3C_ENST00000477318.1_Intron NM_145279.4 NP_660322.2 Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 0 metal ion binding TTCTGCGCTTCATTTGCCATC 0.527000 24 36 0 0 0.00047179 0 0 FOXE3 2301 broad.mit.edu 37 1 47882374 47882374 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47882374C>T ENST00000335071.2 + 1 631 c.387C>T c.(385-387)ttC>ttT p.F129F NM_012186.2 NP_036318.1 Q13461 FOXE3_HUMAN forkhead box E3 129 cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(3)|prostate(1)|upper_aerodigestive_tract(1) 5 READ - Rectum adenocarcinoma(2;0.0908) ACGACTGCTTCGTCAAGGTGC 0.642000 13 51 0 0 0.000308642 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018182 161018182 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161018182C>T ENST00000368013.3 - 12 2949 c.2629G>A c.(2629-2631)Gag>Aag p.E877K ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E700K NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 877 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGATTGCCCTCTTTGGCACAG 0.582000 16 88 0 0 0.000422831 0 0 DOT1L 84444 broad.mit.edu 37 19 2226333 2226333 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:2226333C>T ENST00000398665.3 + 27 3849 c.3813C>T c.(3811-3813)tcC>tcT p.S1271S NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1271 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGAACTCCCTGTTCACGT 0.687000 6 14 0 0 0.00116845 0 0 ARPP21 10777 broad.mit.edu 37 3 35729321 35729321 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:35729321G>A ENST00000187397.4 + 6 808 c.352G>A c.(352-354)Gat>Aat p.D118N ARPP21_ENST00000444190.1_Missense_Mutation_p.D118N|ARPP21_ENST00000458225.1_Missense_Mutation_p.D118N|ARPP21_ENST00000337271.5_Missense_Mutation_p.D118N|ARPP21_ENST00000417925.1_Missense_Mutation_p.D118N NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 118 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AAAAGAAAAGGATAAAAACAA 0.353000 6 12 0 0 0.00198382 0 0 SLC28A1 9154 broad.mit.edu 37 15 85438184 85438184 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:85438184C>T ENST00000394573.1 + 6 493 c.291C>T c.(289-291)ttC>ttT p.F97F SLC28A1_ENST00000537703.1_Silent_p.F19F|SLC28A1_ENST00000537216.1_Silent_p.F97F|SLC28A1_ENST00000286749.3_Silent_p.F97F|SLC28A1_ENST00000538177.1_Silent_p.F97F|SLC28A1_ENST00000338602.2_Silent_p.F97F|SLC28A1_ENST00000537624.1_Silent_p.F97F NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 97 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTCTGCCTTCCTGCTGGTGG 0.642000 22 44 0 0 0.00229938 0 0 DGKB 1607 broad.mit.edu 37 7 14880849 14880849 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:14880849C>T ENST00000403951.2 - 2 459 c.40G>A c.(40-42)Gaa>Aaa p.E14K DGKB_ENST00000407950.1_Missense_Mutation_p.E14K|DGKB_ENST00000258767.5_Missense_Mutation_p.E14K|DGKB_ENST00000399322.3_Missense_Mutation_p.E14K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.E14K|DGKB_ENST00000444700.2_Missense_Mutation_p.E14K|DGKB_ENST00000402815.1_Missense_Mutation_p.E14K Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 14 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TGGGAAAATTCCGAAGGGCTG 0.378000 33 14 0 0 0.00128727 0 0 CNBD2 140894 broad.mit.edu 37 20 34618321 34618321 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:34618321G>A ENST00000373973.3 + 12 1655 c.1482G>A c.(1480-1482)tgG>tgA p.W494* CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Nonsense_Mutation_p.W490* cyclic nucleotide binding domain containing 2 AGAACAGCTGGAATATCTTTC 0.537000 33 117 0 0 0.00170553 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12924218 12924218 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12924218C>T ENST00000221486.4 + 8 932 c.838C>T c.(838-840)Cgt>Tgt p.R280C NM_006397.2 NP_006388.2 O75792 RNH2A_HUMAN ribonuclease H2, subunit A 280 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex metal ion binding|ribonuclease H activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 GTCCCAAGCCCGTCCCCGTTC 0.577000 18 41 0 0 0.00152264 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599532 136599532 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:136599532C>T ENST00000531224.1 - 4 739 c.487G>A c.(487-489)Gaa>Aaa p.E163K BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 163 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTTTGTTTTTCCTGAGACCCT 0.433000 6 45 0 0 0.00116845 0 0 PRSS1 5644 broad.mit.edu 37 7 142459835 142459835 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142459835G>A ENST00000486171.1 + 4 470 c.453G>A c.(451-453)acG>acA p.T151T PRSS1_ENST00000311737.7_Silent_p.T137T P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 137 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.T137T(2) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCACTGGCACGAAGTGCCTCA 0.552000 26 85 0 0 0.000720815 0 0 RCVRN 5957 broad.mit.edu 37 17 9808255 9808255 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:9808255C>T ENST00000226193.5 - 1 683 c.243G>A c.(241-243)ctG>ctA p.L81L NM_002903.2 NP_002894.1 P35243 RECO_HUMAN recoverin 81 EF-hand 2. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 CCTTGAAGTCCAGGGTGCCGT 0.602000 22 15 0 0 0.00188189 0 0 ZNF645 158506 broad.mit.edu 37 X 22291568 22291568 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:22291568C>T ENST00000323684.1 + 1 504 c.460C>T c.(460-462)Cgt>Tgt p.R154C NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 154 intracellular zinc ion binding p.R154C(1) cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TGAAAAAGTTCGTCCTCATAT 0.448000 32 32 0 0 0.00209593 0 0 RP1 6101 broad.mit.edu 37 8 55540730 55540730 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:55540730G>A ENST00000220676.1 + 4 4436 c.4288G>A c.(4288-4290)Gat>Aat p.D1430N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1430 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAAGTTTCAGGATGAAAATGC 0.373000 14 32 0 0 0.00244969 0 0 AP3D1 8943 broad.mit.edu 37 19 2111297 2111297 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:2111297G>A ENST00000355272.6 - 26 3178 c.2972C>T c.(2971-2973)tCc>tTc p.S991F AP3D1_ENST00000356926.4_Missense_Mutation_p.S888F|AP3D1_ENST00000350812.6_Missense_Mutation_p.S760F|AP3D1_ENST00000345016.5_Missense_Mutation_p.S929F NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 929 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTAACATAGGAATTTTCAGC 0.612000 8 52 0 0 0.000673444 0 0 SCNN1B 6338 broad.mit.edu 37 16 23366796 23366796 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:23366796G>A ENST00000343070.2 + 4 938 c.762G>A c.(760-762)gaG>gaA p.E254E SCNN1B_ENST00000568085.1_Silent_p.E254E|SCNN1B_ENST00000568923.1_Silent_p.E227E|SCNN1B_ENST00000307331.5_Silent_p.E299E NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 254 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TCGGAGCTGAGCCCTGCAACT 0.627000 12 27 0 0 0.00185496 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318758 30318758 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:30318758G>A ENST00000375377.1 - 3 420 c.319C>T c.(319-321)Ccc>Tcc p.P107S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 107 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CCAGTCGGGGGATGAGAGGAC 0.532000 13 20 0 0 0.00136819 0 0 RLBP1 6017 broad.mit.edu 37 15 89761846 89761846 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89761846C>T ENST00000268125.5 - 4 530 c.91G>A c.(91-93)Gga>Aga p.G31R NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 31 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) AAGACAGGTCCATGGTCCTTG 0.602000 5 37 0 0 0.000602214 0 0 CACNA1C 775 broad.mit.edu 37 12 2224609 2224609 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:2224609A>G ENST00000399655.1 + 2 534 c.269A>G c.(268-270)aAg>aGg p.K90R CACNA1C_ENST00000399617.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K90R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K90R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K90R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.K90R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K90R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K90R 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 90 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 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) GGGAAACCCAAGAAGCAGGGC 0.647000 17 32 0 0 0.000566183 0 0 RAB35 11021 broad.mit.edu 37 12 120536901 120536901 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:120536901G>A ENST00000229340.5 - 4 473 c.285C>T c.(283-285)tcC>tcT p.S95S RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Silent_p.S95S NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 95 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) CGTTGACAAAGGACTCGGCAC 0.577000 15 47 0 0 0.000308642 0 0 TTLL2 83887 broad.mit.edu 37 6 167754223 167754223 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:167754223C>T ENST00000239587.5 + 3 923 c.835C>T c.(835-837)Cgg>Tgg p.R279W NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 279 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGGGTTGGTTCGGTTTGCCAC 0.398000 60 76 0 0 0.000781405 0 0 TCF3 6929 broad.mit.edu 37 19 1615671 1615671 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:1615671G>A ENST00000395423.3 - 14 1474 c.1447C>T c.(1447-1449)Cct>Tct p.P483S TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron P15923 TFE2_HUMAN transcription factor 3 528 Breakpoint for translocation to form TCF3-PBX1 oncogene. B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) GAGTGCCGAGGGGTGGGTTGG 0.687000 T """PBX1, HLF, TFPT""" pre B-ALL 46 37 0 0 0.000781405 0 0 APOB 338 broad.mit.edu 37 2 21225916 21225916 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21225916G>A ENST00000233242.1 - 29 12505 c.12378C>T c.(12376-12378)atC>atT p.I4126I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4126 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 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) ACCTCACGTCGATATCATCAA 0.502000 99 324 0 0 0.000781405 0 0 AOC1 26 broad.mit.edu 37 7 150558147 150558147 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150558147C>T ENST00000493429.1 + 7 2690 c.2106C>T c.(2104-2106)ttC>ttT p.F702F AOC1_ENST00000360937.4_Silent_p.F702F|AOC1_ENST00000467291.1_Silent_p.F702F|AOC1_ENST00000416793.2_Silent_p.F721F|AOC1_ENST00000480582.1_3'UTR amine oxidase, copper containing 1 TCAACTTCTTCCCAGAGGACC 0.617000 22 44 0 0 0.00278032 0 0 PRDM16 63976 broad.mit.edu 37 1 3342733 3342733 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:3342733C>T ENST00000378398.3 + 15 3310 c.3228C>T c.(3226-3228)atC>atT p.I1076I PRDM16_ENST00000442529.2_Silent_p.I1075I|PRDM16_ENST00000441472.2_Silent_p.I1075I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.I1076I|PRDM16_ENST00000270722.5_Silent_p.I1076I|PRDM16_ENST00000514189.1_Silent_p.I1076I|PRDM16_ENST00000511072.1_Silent_p.I1077I Q9HAZ2 PRD16_HUMAN PR domain containing 16 1076 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCTCGGAAATCAGAAACTTTA 0.507000 T EVI1 """MDS, AML""" 12 84 0 0 0.00244969 0 0 TPCN1 53373 broad.mit.edu 37 12 113729446 113729446 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113729446C>T ENST00000550785.1 + 25 2377 c.2208C>T c.(2206-2208)agC>agT p.S736S TPCN1_ENST00000392569.4_Silent_p.S596S|TPCN1_ENST00000335509.6_Silent_p.S664S|TPCN1_ENST00000541517.1_Silent_p.S736S NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 664 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 CCCACTGGAGCCGCCTCTACT 0.597000 3 8 0 0 0.00024832 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356958 104356958 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104356958G>A ENST00000374806.1 - 1 325 c.255C>T c.(253-255)ttC>ttT p.F85F GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 82 EF-hand 2. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CCTTGACGCTGAACTGGGAGG 0.552000 58 85 0 0 0.000781405 0 0 USH2A 7399 broad.mit.edu 37 1 215933013 215933013 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:215933013C>T ENST00000366943.2 - 57 11606 c.11220G>A c.(11218-11220)gaG>gaA p.E3740E USH2A_ENST00000307340.3_Silent_p.E3740E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3740 Fibronectin type-III 22. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGCTATTGGGCTCCAGGTTTT 0.408000 HNSCC(13;0.011) 8 58 0 0 0.000274275 0 0 MUC16 94025 broad.mit.edu 37 19 9046168 9046168 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9046168A>C ENST00000397910.4 - 5 35666 c.35463T>G c.(35461-35463)tcT>tcG p.S11821S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11823 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTGAAGAGAGAGGATGTTG 0.493000 20 22 0 0 0.00121646 0 0 SLFN13 146857 broad.mit.edu 37 17 33772624 33772624 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33772624G>A ENST00000285013.6 - 3 351 c.76C>T c.(76-78)Ctg>Ttg p.L26L SLFN13_ENST00000533791.1_Silent_p.L26L|SLFN13_ENST00000526861.1_Silent_p.L26L|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Silent_p.L26L|SLFN13_ENST00000360502.2_Intron NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 26 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCTTCTCCCAGAGTCACTTCT 0.473000 40 26 0 0 0.00170553 0 0 ABCC3 8714 broad.mit.edu 37 17 48746588 48746588 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48746588G>A ENST00000285238.8 + 16 2105 c.2025G>A c.(2023-2025)ctG>ctA p.L675L NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 675 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTGCCCTGCTGGGAGAGATGG 0.652000 24 22 0 0 0.00047179 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128887159 128887159 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:128887159T>A ENST00000371106.3 + 11 1234 c.1042T>A c.(1042-1044)Tcc>Acc p.S348T NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 348 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 AGACACCTACTCCCCAGTGAT 0.582000 35 52 0 0 0.00222228 0 0 PROCR 10544 broad.mit.edu 37 20 33764091 33764091 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:33764091C>T ENST00000216968.4 + 3 525 c.443C>T c.(442-444)gCc>gTc p.A148V EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 148 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) CCGGAGAGAGCCTTGTGGCAG 0.592000 64 36 0 0 0.000781405 0 0 PREP 5550 broad.mit.edu 37 6 105771585 105771585 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:105771585C>T ENST00000369110.3 - 10 1464 c.1272G>A c.(1270-1272)gaG>gaA p.E424E NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 424 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) TTACGGTCACCTCTCGGAAAA 0.418000 17 19 0 0 0.00229938 0 0 ROBO2 6092 broad.mit.edu 37 3 77657030 77657030 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:77657030C>T ENST00000461745.1 + 21 4118 c.3218C>T c.(3217-3219)cCt>cTt p.P1073L ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.P1073L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1089L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1073 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GCCAATGTCCCTCTACCTCCC 0.423000 19 59 0 0 0.00121646 0 0 FNDC1 84624 broad.mit.edu 37 6 159660606 159660606 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:159660606G>A ENST00000297267.9 + 14 4438 c.4238G>A c.(4237-4239)cGa>cAa p.R1413Q FNDC1_ENST00000340366.6_Missense_Mutation_p.R1350Q NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1413 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGGCAGGGGCGACATGGCACA 0.532000 6 8 0 0 0.00198382 0 0 WDR96 80217 broad.mit.edu 37 10 105893452 105893452 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105893452C>T ENST00000357060.3 - 35 4637 c.4522G>A c.(4522-4524)Gag>Aag p.E1508K WDR96_ENST00000428666.1_Missense_Mutation_p.E1480K|WDR96_ENST00000479392.1_5'UTR NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1508 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTTTCCATCTCCATTTTCTTA 0.358000 16 24 0 0 0.000422831 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52902464 52902464 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:52902464C>T ENST00000371544.3 - 26 4384 c.4122G>A c.(4120-4122)gaG>gaA p.E1374E ZCCHC11_ENST00000257177.4_Silent_p.E1375E NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1374 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CCAGCTTGACCTCTGGGCACT 0.488000 153 186 0 0 0.000781405 0 0 C10orf12 26148 broad.mit.edu 37 10 98744594 98744594 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:98744594C>T ENST00000286067.2 + 1 3554 c.3447C>T c.(3445-3447)atC>atT p.I1149I NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1149 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AAGTGAAGATCCCTAAAAAGT 0.502000 10 26 0 0 0.000978159 0 0 ABCA1 19 broad.mit.edu 37 9 107564394 107564394 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:107564394G>A ENST00000374736.3 - 34 5033 c.4639C>T c.(4639-4641)Ccg>Tcg p.P1547S NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1547 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCTTGACTCGGAGGAAGTGCT 0.423000 45 47 0 0 0.000781405 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039788 36039788 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:36039788T>C ENST00000282507.3 - 5 967 c.866A>G c.(865-867)aAg>aGg p.K289R UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.K255R NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 289 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCCCCAAACTTGGCAATGAA 0.448000 11 37 0 0 0.00136819 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909135 101909135 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:101909135C>T ENST00000537097.1 + 6 1107 c.294C>T c.(292-294)ccC>ccT p.P98P GPRASP1_ENST00000415986.1_Silent_p.P98P|GPRASP1_ENST00000444152.1_Silent_p.P98P|GPRASP1_ENST00000361600.5_Silent_p.P98P|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 98 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGGCTCAGCCCAGGTTTGGTG 0.478000 125 6 0 0 0.000781405 0 0 NTNG1 22854 broad.mit.edu 37 1 108023381 108023381 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:108023381C>T ENST00000370067.1 + 7 1929 c.1302C>T c.(1300-1302)ggC>ggT p.G434G NTNG1_ENST00000370070.2_Silent_p.G434G|NTNG1_ENST00000370074.4_Silent_p.G412G|NTNG1_ENST00000370068.1_Silent_p.G513G|NTNG1_ENST00000370061.3_Silent_p.G479G|NTNG1_ENST00000542803.1_Silent_p.G513G|NTNG1_ENST00000370071.2_Silent_p.G454G|NTNG1_ENST00000370073.2_Silent_p.G513G|NTNG1_ENST00000370072.3_Silent_p.G468G|NTNG1_ENST00000370066.1_Silent_p.G454G|NTNG1_ENST00000370065.1_Silent_p.G468G Q9Y2I2 NTNG1_HUMAN netrin G1 513 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CCGACTCTGGCCAGGGCGCGC 0.706000 15 23 0 0 0.00244969 0 0 CFH 3075 broad.mit.edu 37 1 196706692 196706692 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:196706692C>T ENST00000367429.4 + 17 2924 c.2684C>T c.(2683-2685)aCt>aTt p.T895I NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 895 Sushi 15. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GCACATGGGACTAAATTGAGT 0.383000 7 36 0 0 0.00198382 0 0 ITGA11 22801 broad.mit.edu 37 15 68642958 68642958 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:68642958C>T ENST00000423218.2 - 9 1152 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K ITGA11_ENST00000315757.7_Missense_Mutation_p.E353K Q9UKX5 ITA11_HUMAN integrin, alpha 11 353 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TGCTTACCTTCCAGGCTGAAG 0.507000 27 13 0 0 0.00106085 0 0 BAX 581 broad.mit.edu 37 19 49459483 49459483 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49459483C>T ENST00000293288.8 + 4 262 c.262C>T c.(262-264)Ccc>Tcc p.P88S BAX_ENST00000345358.7_Missense_Mutation_p.P88S|BAX_ENST00000539787.1_Missense_Mutation_p.P88S|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.P88S|BAX_ENST00000354470.3_Missense_Mutation_p.P39S NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 88 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) CACAGACTCCCCCCGAGAGGT 0.577000 22 95 0 0 0.00106085 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473767 145473767 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145473767G>A ENST00000323397.4 + 4 1732 c.439G>A c.(439-441)Gat>Aat p.D147N NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 147 endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATCACCACCGATACCTCGCC 0.647000 18 47 0 0 0.000958276 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618646 77618646 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:77618646G>A ENST00000521891.2 + 2 2771 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E775K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E775K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E775K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 775 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGTGATTATGAAACCAATGT 0.507000 HNSCC(33;0.089) 9 17 0 0 0.000673444 0 0 DDX60 55601 broad.mit.edu 37 4 169188838 169188838 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:169188838G>A ENST00000393743.3 - 22 3225 c.2934C>T c.(2932-2934)ctC>ctT p.L978L NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 978 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TCTCTCCATAGAGCACTAAAA 0.348000 17 43 0 0 0.000958276 0 0 WDR90 197335 broad.mit.edu 37 16 716970 716970 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:716970C>T ENST00000549091.1 + 40 5168 c.5076C>T c.(5074-5076)ctC>ctT p.L1692L WDR90_ENST00000293879.4_Silent_p.L1690L|WDR90_ENST00000315764.4_Silent_p.L241L|WDR90_ENST00000547944.1_Silent_p.L289L NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1690 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GGACCCACCTCCTGGCTGTTG 0.617000 4 8 0 0 0.000602214 0 0 CFAP221 200373 broad.mit.edu 37 2 120369265 120369265 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:120369265C>T ENST00000602047.1 + 14 1512 c.400C>T c.(400-402)Cag>Tag p.Q134* PCDP1_ENST00000413369.3_Nonsense_Mutation_p.Q420*|PCDP1_ENST00000597189.1_3'UTR Q4G0U5 PCDP1_HUMAN 420 cilium calmodulin binding Colorectal(110;0.196) TGAGGAATTTCAGCGACTTAA 0.333000 12 58 0 0 0.00244969 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502037 90502037 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:90502037G>A ENST00000325643.5 + 4 2701 c.2635G>A c.(2635-2637)Gcc>Acc p.A879T NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TACCCCCTGGGCCTCCTGGGT 0.562000 16 23 0 0 0.000566183 0 0 TTC13 79573 broad.mit.edu 37 1 231048465 231048465 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:231048465C>A ENST00000366661.4 - 19 2140 c.2133G>T c.(2131-2133)acG>acT p.T711T TTC13_ENST00000366662.4_Silent_p.T657T|TTC13_ENST00000414259.1_Silent_p.T658T NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 711 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCCTTTCTTCCGTGGTTTGAG 0.323000 7 230 0.00198382 0.00723911 0.00198382 1 0 TRBV6-8 28599 broad.mit.edu 37 7 142124529 142124529 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142124529G>A ENST00000390376.2 - 0 36 GCCCACAGGAGAGAAAAGGCC 0.602000 23 68 0 0 0.000720815 0 0 PKHD1 5314 broad.mit.edu 37 6 51503726 51503726 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51503726A>C ENST00000371117.3 - 64 11702 c.11427T>G c.(11425-11427)ggT>ggG p.G3809G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3809 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 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) AGCTAACATAACCATCTTGAG 0.383000 39 62 0 0 0.00222228 0 0 LHCGR 3973 broad.mit.edu 37 2 48952827 48952827 + Missense_Mutation SNP C C T rs140788691 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:48952827C>T ENST00000294954.7 - 4 392 c.371G>A c.(370-372)cGa>cAa p.R124Q LHCGR_ENST00000344775.3_Missense_Mutation_p.R124Q|LHCGR_ENST00000405626.1_Missense_Mutation_p.R124Q|LHCGR_ENST00000403273.1_Missense_Mutation_p.R124Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.R124Q|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 124 R -> G (in Ref. 1; AAA59515 and 4; CAA59234). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTATTTTAATCGGGGAAGATT 0.368000 69 61 0 0 0.000781405 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122173 12122173 + Silent SNP C C T rs34746669 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:12122173C>T ENST00000379388.2 + 4 2477 c.2145C>T c.(2143-2145)acC>acT p.T715T NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 715 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CTCTTGTCACCACGTCAACAC 0.527000 9 38 0 0 0.000978159 0 0 OR13F1 138805 broad.mit.edu 37 9 107266990 107266990 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:107266990G>A ENST00000334726.2 + 1 536 c.447G>A c.(445-447)tgG>tgA p.W149* NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CTGGCTCCTGGATGACAGGCT 0.493000 56 70 0 0 0.000781405 0 0 RANBP17 64901 broad.mit.edu 37 5 170345744 170345744 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:170345744G>A ENST00000523189.1 + 10 1146 c.982G>A c.(982-984)Gaa>Aaa p.E328K NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 328 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TAATTATCATGAATTTTGTCG 0.323000 T TRD@ ALL 12 37 0 0 0.00244969 0 0 IL18R1 8809 broad.mit.edu 37 2 102984507 102984507 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:102984507G>A ENST00000409599.1 + 4 637 c.281G>A c.(280-282)gGa>gAa p.G94E IL18R1_ENST00000334376.3_Missense_Mutation_p.G94E|IL18R1_ENST00000233957.1_Missense_Mutation_p.G94E Q13478 IL18R_HUMAN interleukin 18 receptor 1 94 Ig-like C2-type 1. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AATGACACAGGATCTTACTTT 0.408000 33 124 0 0 0.000953801 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536039 31536039 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31536039C>T ENST00000215885.3 - 1 554 c.302G>A c.(301-303)gGa>gAa p.G101E NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 101 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CAGCTCGGGTCCGGGGGTGTG 0.632000 62 11 0 0 0.000781405 0 0 PPFIA2 8499 broad.mit.edu 37 12 81747075 81747075 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81747075A>C ENST00000550584.2 - 16 2112 c.1817T>G c.(1816-1818)aTt>aGt p.I606S PPFIA2_ENST00000549396.1_Missense_Mutation_p.I606S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.I453S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.I173S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.I606S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.I588S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.I507S|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.I606S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.I532S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.I588S NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 532 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TAGTACTCCAATCTGTTGAGT 0.363000 17 44 0 0 0.000958276 0 0 PXDNL 137902 broad.mit.edu 37 8 52384783 52384783 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:52384783C>T ENST00000356297.4 - 8 876 c.776G>A c.(775-777)gGa>gAa p.G259E PXDNL_ENST00000543296.1_Missense_Mutation_p.G259E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 259 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTTGGGGTTTCCTTCCGCCCG 0.443000 19 78 0 0 0.00188189 0 0 VPS13D 55187 broad.mit.edu 37 1 12401849 12401849 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12401849C>T ENST00000358136.3 + 41 8769 c.8639C>T c.(8638-8640)aCc>aTc p.T2880I VPS13D_ENST00000356315.4_Missense_Mutation_p.T2855I NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2879 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAGGTGAAAACCCCCAAGCGC 0.572000 29 125 0 0 0.00283554 0 0 NYAP2 57624 broad.mit.edu 37 2 226378191 226378191 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:226378191C>T ENST00000272907.6 + 3 739 c.326C>T c.(325-327)cCt>cTt p.P109L NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 109 CTTCCCCATCCTTGCTCCAGT 0.562000 10 31 0 0 0.000673444 0 0 TTLL7 79739 broad.mit.edu 37 1 84386789 84386789 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:84386789G>A ENST00000260505.8 - 12 1722 c.1345C>T c.(1345-1347)Cga>Tga p.R449* TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 449 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CCCATATGTCGATTTTCATGT 0.323000 11 49 0 0 0.00136819 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291234 1291234 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1291234C>T ENST00000461509.2 + 2 357 c.163C>T c.(163-165)Ctg>Ttg p.L55L TPSAB1_ENST00000338844.3_Silent_p.L48L P20231 TRYB2_HUMAN tryptase alpha/beta 1 48 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GCAGGTGAGCCTGAGAGTCCA 0.697000 18 46 0 0 0.00121646 0 0 SGK223 157285 broad.mit.edu 37 8 8234125 8234125 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:8234125C>T ENST00000520004.1 - 3 2058 c.1794G>A c.(1792-1794)cgG>cgA p.R598R SGK223_ENST00000330777.4_Silent_p.R598R Q86YV5 SG223_HUMAN 598 ATP binding|non-membrane spanning protein tyrosine kinase activity CACCGTTGGTCCGGCAGGAAG 0.662000 40 16 0 0 0.000781405 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994724 143994724 + Silent SNP C C T rs61757297 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143994724C>T ENST00000323110.2 - 6 1100 c.1098G>A c.(1096-1098)cgG>cgA p.R366R NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 366 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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) Candesartan(DB00796)|Metyrapone(DB01011) TGAGGGCCGCCCGCAGCAAGG 0.692000 Familial Hyperaldosteronism type I 32 29 0 0 0.000781405 0 0 CACNA1B 774 broad.mit.edu 37 9 140943685 140943685 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:140943685C>T ENST00000277549.5 + 24 3773 c.1204C>T c.(1204-1206)Cac>Tac p.H402Y CACNA1B_ENST00000371355.4_Missense_Mutation_p.H1211Y|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H1211Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.H1210Y|CACNA1B_ENST00000371372.1_Missense_Mutation_p.H1210Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.H1210Y Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1210 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ACTGCTGCTTCACCCTGGAGC 0.527000 17 76 0 0 0.00278032 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037683 14037683 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:14037683C>T ENST00000318003.7 + 20 2364 c.2123C>T c.(2122-2124)cCt>cTt p.P708L CC2D1A_ENST00000589606.1_Missense_Mutation_p.P708L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 708 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) ACAGACTCCCCTGGTGAGCCT 0.562000 18 48 0 0 0.00152264 0 0 CSNK1D 1453 broad.mit.edu 37 17 80210338 80210338 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:80210338G>A ENST00000314028.6 - 5 1057 c.708C>T c.(706-708)ccC>ccT p.P236P CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.P236P|CSNK1D_ENST00000392334.2_Silent_p.P236P NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 236 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) ACACTTCGATGGGGGTGGACA 0.537000 67 203 0 0 0.000781405 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68265132 68265132 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:68265132G>A ENST00000347230.4 - 11 1985 c.1847C>T c.(1846-1848)cCa>cTa p.P616L ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P616L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 616 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding 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) GCTCTCTGATGGGGACCTCAA 0.537000 17 43 0 0 0.000566183 0 0 MXRA5 25878 broad.mit.edu 37 X 3238709 3238709 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:3238709G>A ENST00000217939.6 - 5 5171 c.5017C>T c.(5017-5019)Cct>Tct p.P1673S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1673 extracellular region 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) AATGGGAGAGGAATTGTTGTA 0.413000 80 72 0 0 0.000781405 0 0 SEC11C 90701 broad.mit.edu 37 18 56819910 56819910 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:56819910C>T ENST00000587834.1 + 3 812 c.340C>T c.(340-342)Cat>Tat p.H114Y SEC11C_ENST00000588875.1_Missense_Mutation_p.H114Y NM_033280.2 NP_150596.1 Q9BY50 SC11C_HUMAN SEC11 homolog C (S. cerevisiae) 114 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity endometrium(1)|large_intestine(4)|liver(2)|lung(2) 9 Colorectal(73;0.175) AATCAAAGTTCATGAAAAGTA 0.343000 23 89 0 0 0.00047179 0 0 CACNG2 10369 broad.mit.edu 37 22 36960716 36960716 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36960716G>A ENST00000300105.6 - 4 1635 c.654C>T c.(652-654)ctC>ctT p.L218L NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 218 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGAGGCCTGGAGGTAGTCCG 0.677000 44 421 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196681528 196681528 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196681528C>T ENST00000312428.6 - 51 9685 c.9585G>A c.(9583-9585)aaG>aaA p.K3195K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3195 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.K3195N(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGGTGTCAATCTTTTTCTCTG 0.418000 47 57 0 0 0.000781405 0 0 PRX 57716 broad.mit.edu 37 19 40900623 40900623 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:40900623C>T ENST00000324001.7 - 7 3906 c.3636G>A c.(3634-3636)aaG>aaA p.K1212K PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1212 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGGTGGGCATCTTAAAGACAC 0.662000 22 63 0 0 0.00278032 0 0 DDX27 55661 broad.mit.edu 37 20 47845304 47845304 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:47845304C>T ENST00000371764.4 + 8 861 c.852C>T c.(850-852)ccC>ccT p.P284P DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 284 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTTATAAACCCCGCCAGGCTC 0.577000 43 140 0 0 0.000680045 0 0 PDE6C 5146 broad.mit.edu 37 10 95400711 95400711 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:95400711A>T ENST00000371447.3 + 14 1910 c.1772A>T c.(1771-1773)gAa>gTa p.E591V NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 591 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACAGATCTCGAAGCCTTTGCC 0.348000 13 18 0 0 0.000308642 0 0 PRKG1 5592 broad.mit.edu 37 10 54040554 54040554 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:54040554C>T ENST00000373980.4 + 13 1826 c.1409C>T c.(1408-1410)tCg>tTg p.S470L PRKG1_ENST00000401604.2_Missense_Mutation_p.S455L|PRKG1_ENST00000373975.2_Missense_Mutation_p.S173L|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.S443L|PRKG1-AS1_ENST00000452247.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 455 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CTCAGAGGTTCGTTTGAAGAT 0.343000 9 8 0 0 0.000978159 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900290 112900290 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:112900290C>T ENST00000374530.3 + 8 2646 c.2466C>T c.(2464-2466)tcC>tcT p.S822S AKAP2_ENST00000259318.7_Silent_p.S591S|AKAP2_ENST00000510514.5_Silent_p.S822S|AKAP2_ENST00000374525.1_Silent_p.S680S|AKAP2_ENST00000434623.2_Silent_p.S680S|PALM2-AKAP2_ENST00000302798.7_Silent_p.S822S|AKAP2_ENST00000555236.1_Silent_p.S822S NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 591 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AAGCTGTGTCCAAAACCAGCA 0.542000 6 32 0 0 0.00116845 0 0 SEMA4A 64218 broad.mit.edu 37 1 156132739 156132739 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156132739G>A ENST00000368285.3 + 10 1255 c.988G>A c.(988-990)Gtt>Att p.V330I SEMA4A_ENST00000368282.1_Missense_Mutation_p.V330I|SEMA4A_ENST00000368286.2_Missense_Mutation_p.V198I|SEMA4A_ENST00000368284.1_Missense_Mutation_p.V198I|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.V330I NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 330 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CTCCAGGCAGGTTGGCGGGAC 0.537000 52 62 0 0 0.000781405 0 0 KLF7 8609 broad.mit.edu 37 2 207988671 207988671 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207988671G>A ENST00000309446.6 - 2 936 c.560C>T c.(559-561)gCc>gTc p.A187V KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.A154V|KLF7_ENST00000412414.2_Missense_Mutation_p.A159V|KLF7_ENST00000458272.1_Intron NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 187 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) AGCCGTCACGGCTGCTGCAGC 0.612000 20 78 0 0 0.00152264 0 0 HERC3 8916 broad.mit.edu 37 4 89628082 89628082 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:89628082G>A ENST00000402738.1 + 26 3363 c.3124G>A c.(3124-3126)Gac>Aac p.D1042N HERC3_ENST00000264345.3_Missense_Mutation_p.D1042N|HERC3_ENST00000543130.1_Missense_Mutation_p.D486N NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 1042 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CCAGGCCCTTGACAACTATGA 0.517000 OREG0016265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 25 0 0 0.00244969 0 0 ARSF 416 broad.mit.edu 37 X 3030406 3030406 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:3030406G>A ENST00000381127.1 + 11 1803 c.1582G>A c.(1582-1584)Gat>Aat p.D528N ARSF_ENST00000359361.2_Missense_Mutation_p.D528N|ARSF_ENST00000537104.1_Missense_Mutation_p.D528N NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 528 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCCCTCCATGATTTTGTGAT 0.557000 44 1 0 0 0.00285205 0 0 ESR1 2099 broad.mit.edu 37 6 152382133 152382133 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:152382133G>A ENST00000440973.1 + 8 1613 c.1243G>A c.(1243-1245)Gga>Aga p.G415R ESR1_ENST00000443427.1_Missense_Mutation_p.G415R|ESR1_ENST00000206249.3_Missense_Mutation_p.G415R|ESR1_ENST00000406599.1_Missense_Mutation_p.G154R|ESR1_ENST00000544394.1_Missense_Mutation_p.G242R|ESR1_ENST00000338799.5_Missense_Mutation_p.G415R|ESR1_ENST00000456483.2_Missense_Mutation_p.G303R NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 415 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TAGGAACCAGGGAAAATGTGT 0.383000 9 3 0 0 0.000274275 0 0 DSC1 1823 broad.mit.edu 37 18 28720073 28720073 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28720073G>A ENST00000257197.3 - 10 1713 c.1452C>T c.(1450-1452)ttC>ttT p.F484F DSC1_ENST00000257198.5_Silent_p.F484F|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 484 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GGCCAGCTGGGAAGCCATCTT 0.443000 12 80 0 0 0.00185496 0 0 MCF2L2 23101 broad.mit.edu 37 3 182925542 182925542 + Missense_Mutation SNP G G A rs148585637 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:182925542G>A ENST00000328913.3 - 23 2863 c.2566C>T c.(2566-2568)Cgt>Tgt p.R856C MCF2L2_ENST00000473233.1_Missense_Mutation_p.R856C NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 856 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ATTTTATAACGATCCTTGTGA 0.428000 22 46 0 0 0.00229938 0 0 LALBA 3906 broad.mit.edu 37 12 48963728 48963728 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:48963728C>T ENST00000549817.1 - 1 121 c.76G>A c.(76-78)Gag>Aag p.E26K LALBA_ENST00000301046.2_Missense_Mutation_p.E26K P00709 LALBA_HUMAN lactalbumin, alpha- 26 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 TGGGACAGCTCACATTTTGTG 0.498000 36 18 0 0 0.000692331 0 0 OR4K5 79317 broad.mit.edu 37 14 20389615 20389615 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20389615C>A ENST00000315915.4 + 1 875 c.850C>A c.(850-852)Ccc>Acc p.P284T NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CGTCCTAAACCCCATTATTTA 0.408000 12 93 1.08611e-07 3.99659e-07 0.000978159 1 0 NOTCH4 4855 broad.mit.edu 37 6 32163318 32163318 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32163318G>A ENST00000375023.3 - 30 6046 c.5908C>T c.(5908-5910)Cct>Tct p.P1970S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1970 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 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 GTAAGGCAAGGAGGCGGGATC 0.617000 131 147 0 0 0.000781405 0 0 PEG3 5178 broad.mit.edu 37 19 57328555 57328555 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:57328555C>T ENST00000326441.9 - 10 1618 c.1255G>A c.(1255-1257)Ggt>Agt p.G419S ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G293S|PEG3_ENST00000423103.2_Missense_Mutation_p.G419S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G295S|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 419 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATCTCACTACCACATTCAAAG 0.498000 33 127 0 0 0.00283554 0 0 C8A 731 broad.mit.edu 37 1 57347218 57347218 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57347218C>T ENST00000361249.3 + 5 661 c.565C>T c.(565-567)Cga>Tga p.R189* NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 189 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GAGGGAGCTTCGATATGACTC 0.453000 15 29 0 0 0.00074312 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021937 51021937 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51021937C>T ENST00000599957.1 - 3 1230 c.1033G>A c.(1033-1035)Ggc>Agc p.G345S LRRC4B_ENST00000389201.3_Missense_Mutation_p.G345S Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 345 LRRCT. cell junction|integral to membrane|presynaptic membrane 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) CCCTTGAGGCCGGCGGGCGCA 0.667000 7 38 0 0 0.000157383 0 0 ZNF470 388566 broad.mit.edu 37 19 57089701 57089701 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:57089701C>T ENST00000330619.8 + 6 2590 c.1904C>T c.(1903-1905)tCc>tTc p.S635F ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.S635F NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CATCGTAAATCCCTTACTCTG 0.423000 7 25 0 0 0.00198382 0 0 AMOT 154796 broad.mit.edu 37 X 112022744 112022744 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:112022744G>A ENST00000371959.3 - 10 2637 c.2638C>T c.(2638-2640)Ccc>Tcc p.P880S AMOT_ENST00000304758.1_Missense_Mutation_p.P471S|AMOT_ENST00000524145.1_Missense_Mutation_p.P880S|AMOT_ENST00000371962.1_Missense_Mutation_p.P648S NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 880 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 acagagatgggagcaacagct 0.597000 9 8 0 0 0.000442599 0 0 OR2L8 391190 broad.mit.edu 37 1 248112603 248112603 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248112603G>A ENST00000357191.3 + 1 444 c.444G>A c.(442-444)tgG>tgA p.W148* OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CAGGGTCTTGGATCATAGGCT 0.443000 65 118 0 0 0.000781405 0 0 CYFIP2 26999 broad.mit.edu 37 5 156760402 156760402 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:156760402C>T ENST00000347377.6 + 21 2764 c.2333C>T c.(2332-2334)tCc>tTc p.S778F CYFIP2_ENST00000521420.1_Missense_Mutation_p.S752F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S803F|CYFIP2_ENST00000442283.2_Missense_Mutation_p.S63F|CYFIP2_ENST00000541131.1_Missense_Mutation_p.S703F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.S477F|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S582F|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S778F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 803 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGTATAAATCCTTGGACCAA 0.473000 141 295 0 0 0.000781405 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884106 228884106 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:228884106G>A ENST00000392056.3 - 7 1510 c.1464C>T c.(1462-1464)tcC>tcT p.S488S SPHKAP_ENST00000344657.5_Silent_p.S488S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 488 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GTTGTCTGCTGGAGTTCTCTC 0.532000 17 41 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9059164 9059164 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9059164C>T ENST00000397910.4 - 3 28485 c.28282G>A c.(28282-28284)Gaa>Aaa p.E9428K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9430 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTTTTTTTCCACAGACAGC 0.502000 10 55 0 0 0.000978159 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961524 73961524 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:73961524G>A ENST00000373468.1 - 3 3519 c.2868C>T c.(2866-2868)acC>acT p.T956T KIAA2022_ENST00000055682.5_Silent_p.T956T Q5QGS0 K2022_HUMAN KIAA2022 956 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATGGGAGTTGGGTATCTTGCA 0.438000 49 5 0 0 0.000781405 0 0 NPTX1 4884 broad.mit.edu 37 17 78445638 78445638 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:78445638C>T ENST00000306773.4 - 4 1128 c.971G>A c.(970-972)gGg>gAg p.G324E NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 324 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) CTCCCAGACCCCGTCCCGGGT 0.627000 7 40 0 0 0.00198382 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560008 44560008 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:44560008G>A ENST00000332567.4 - 1 1980 c.1628C>T c.(1627-1629)gCc>gTc p.A543V KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 543 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTCGCTGAGGGCGTCCGGATT 0.607000 91 56 0 0 0.000781405 0 0 MEGF10 84466 broad.mit.edu 37 5 126734473 126734473 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:126734473C>T ENST00000274473.6 + 8 1032 c.765C>T c.(763-765)tgC>tgT p.C255C MEGF10_ENST00000508365.1_Silent_p.C255C|MEGF10_ENST00000418761.2_Silent_p.C255C|MEGF10_ENST00000503335.2_Silent_p.C255C NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 255 EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AATGCTCTTGCCCTTCTGGCT 0.517000 35 13 0 0 0.000692331 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577037 232577037 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:232577037G>A ENST00000366630.1 - 13 4000 c.3642_splice c.e13+1 p.H1214_splice SIPA1L2_ENST00000262861.4_Splice_Site_p.H1214_splice|SIPA1L2_ENST00000308942.4_Splice_Site_p.H288_splice Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1214 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAGGACTTACGTGAGAAAGCT 0.493000 118 501 0 0 0.000781405 0 0 E2F8 79733 broad.mit.edu 37 11 19246210 19246210 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:19246210G>A ENST00000527884.1 - 13 2831 c.2599C>T c.(2599-2601)Cat>Tat p.H867Y RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.H867Y NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 867 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTTGATTAATGGACATCCTCT 0.378000 15 19 0 0 0.000566183 0 0 PAPLN 89932 broad.mit.edu 37 14 73731413 73731413 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:73731413C>T ENST00000427855.1 + 22 3206 c.3104C>T c.(3103-3105)tCa>tTa p.S1035L PAPLN_ENST00000381166.3_Missense_Mutation_p.S1035L|PAPLN_ENST00000554301.1_Missense_Mutation_p.S1035L|PAPLN_ENST00000340738.5_Missense_Mutation_p.S1008L|PAPLN_ENST00000555445.1_Missense_Mutation_p.S1019L O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 1035 Ig-like C2-type 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) ATCCCCTCTTCACACCCACAG 0.657000 29 86 0 0 0.0024448 0 0 SHANK1 50944 broad.mit.edu 37 19 51165595 51165595 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51165595G>A ENST00000293441.1 - 23 6131 c.6113C>T c.(6112-6114)tCc>tTc p.S2038F SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.S1425F|SHANK1_ENST00000359082.3_Missense_Mutation_p.S2029F|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391814.1_Missense_Mutation_p.S2046F NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2038 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCAGTTGGGGAGCCACGGAT 0.701000 5 15 0 0 0.00198382 0 0 ZNF292 23036 broad.mit.edu 37 6 87967944 87967944 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:87967944G>A ENST00000369577.3 + 8 4640 c.4597G>A c.(4597-4599)Gta>Ata p.V1533I ZNF292_ENST00000339907.4_Missense_Mutation_p.V1528I NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AAATCCAACTGTACCACCCCT 0.463000 11 5 0 0 0.000978159 0 0 NNT 23530 broad.mit.edu 37 5 43651924 43651924 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:43651924C>T ENST00000264663.5 + 13 2022 c.1801C>T c.(1801-1803)Cct>Tct p.P601S NNT_ENST00000344920.4_Missense_Mutation_p.P601S|NNT_ENST00000512996.2_Missense_Mutation_p.P470S NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 601 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GTACCTGCTCCCTGCCGGCAC 0.453000 36 82 0 0 0.00111076 0 0 ECHS1 1892 broad.mit.edu 37 10 135179550 135179550 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:135179550G>A ENST00000368547.3 - 6 1024 c.669C>T c.(667-669)atC>atT p.I223I NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 223 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) CTGCACACTGGATGGCTTCTT 0.448000 19 77 0 0 0.000958276 0 0 SIMC1 375484 broad.mit.edu 37 5 175717561 175717561 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:175717561C>T ENST00000443967.1 + 4 1384 c.977C>T c.(976-978)tCa>tTa p.S326L SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.S345L|SIMC1_ENST00000430704.2_Intron SUMO-interacting motifs containing 1 GTGTTACATTCACCTGGAGAC 0.532000 27 61 0 0 0.00106085 0 0 OR2M7 391196 broad.mit.edu 37 1 248487377 248487377 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248487377G>A ENST00000317965.2 - 1 522 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 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) GTAGGAGAAGGAAAATGTCGC 0.453000 44 85 0 0 0.000781405 0 0 DHX57 90957 broad.mit.edu 37 2 39088225 39088225 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:39088225G>A ENST00000295373.6 - 5 1453 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 443 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GTCCTAGAGGGTACTGGCAGA 0.378000 28 112 0 0 0.00178596 0 0 SKAP2 8935 broad.mit.edu 37 7 26883685 26883685 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:26883685C>T ENST00000345317.2 - 4 584 c.271G>A c.(271-273)Gaa>Aaa p.E91K SKAP2_ENST00000539623.1_5'UTR NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 91 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 TCATATCGTTCTGAGGCTAAT 0.403000 36 205 0 0 0.00128727 0 0 FOLH1 2346 broad.mit.edu 37 11 49175808 49175808 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:49175808C>T ENST00000340334.7 - 17 2183 c.1815G>A c.(1813-1815)caG>caA p.Q605Q FOLH1_ENST00000256999.2_Silent_p.Q620Q|FOLH1_ENST00000356696.3_Silent_p.Q620Q|FOLH1_ENST00000343844.4_Silent_p.Q312Q|FOLH1_ENST00000533034.1_Silent_p.Q605Q NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 620 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCTTCATTTCCTGTGGATGTT 0.343000 18 30 0 0 0.00121646 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256462 140256462 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140256462C>T ENST00000398631.2 + 1 1405 c.1405C>T c.(1405-1407)Ccg>Tcg p.P469S PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAACAACCCGCCGGGCTG 0.662000 33 57 0 0 0.00283554 0 0 MCMDC2 157777 broad.mit.edu 37 8 67793138 67793138 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:67793138C>T ENST00000422365.2 + 8 935 c.764C>T c.(763-765)cCa>cTa p.P255L MCMDC2_ENST00000492775.1_Missense_Mutation_p.P255L|MCMDC2_ENST00000541540.1_Missense_Mutation_p.P192L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.P255L|MCMDC2_ENST00000396592.3_Missense_Mutation_p.P255L NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 255 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 ATTGGAATTCCAACCTGTGTA 0.244000 9 25 0 0 0.000442599 0 0 MAGI1 9223 broad.mit.edu 37 3 65479266 65479266 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:65479266C>T ENST00000330909.8 - 3 470 c.471G>A c.(469-471)gtG>gtA p.V157V MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.V157V|MAGI1_ENST00000402939.2_Silent_p.V157V|MAGI1_ENST00000497477.2_Silent_p.V157V NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 157 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AGTTATAGTCCACGCCAGGCA 0.483000 14 49 0 0 0.00244969 0 0 CCDC83 220047 broad.mit.edu 37 11 85597391 85597391 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:85597391G>A ENST00000280245.4 + 5 1004 c.492G>A c.(490-492)gaG>gaA p.E164E CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000342404.3_Silent_p.E164E|CCDC83_ENST00000529676.2_Intron NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 164 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CAGTTAAAGAGAATGCAGAGA 0.363000 6 9 0 0 0.00116845 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687247 8687247 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8687247C>T ENST00000299663.3 - 6 812 c.647G>A c.(646-648)gGa>gAa p.G216E CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.G171E NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 216 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) AAGAGATTTTCCTTTGTTCAA 0.408000 16 35 0 0 0.000422831 0 0 APOB 338 broad.mit.edu 37 2 21229420 21229420 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21229420G>A ENST00000233242.1 - 26 10447 c.10320C>T c.(10318-10320)ttC>ttT p.F3440F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3440 Heparin-binding. 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 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) GTTCTTGCTTGAAATTCATTC 0.373000 215 275 0 0 0.000781405 0 0 LAMP5 24141 broad.mit.edu 37 20 9496969 9496969 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9496969G>A ENST00000246070.2 + 4 928 c.436G>A c.(436-438)Gac>Aac p.D146N LAMP5_ENST00000427562.2_Missense_Mutation_p.D102N NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 146 integral to membrane GTTTGTCTACGACTCCTCGGA 0.582000 53 22 0 0 0.000781405 0 0 GLIS1 148979 broad.mit.edu 37 1 53995472 53995472 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53995472G>T ENST00000312233.2 - 4 1515 c.949C>A c.(949-951)Cta>Ata p.L317I NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 317 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 ACCGTGTCTAGGTGGGTGCGC 0.662000 24 84 7.26314e-15 2.68109e-14 0.00127121 1 0 DNAH8 1769 broad.mit.edu 37 6 38835890 38835890 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:38835890G>A ENST00000359357.3 + 46 6349 c.6095G>A c.(6094-6096)gGa>gAa p.G2032E DNAH8_ENST00000441566.1_Missense_Mutation_p.G1996E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2249E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGACTCTTGGATCTCAAAAA 0.363000 20 52 0 0 0.000958276 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646309 48646309 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48646309C>T ENST00000352832.5 + 2 693 c.321C>T c.(319-321)atC>atT p.I107I CACNA1G_ENST00000515411.1_Silent_p.I107I|CACNA1G_ENST00000505165.1_Silent_p.I107I|CACNA1G_ENST00000515765.1_Silent_p.I107I|CACNA1G_ENST00000359106.5_Silent_p.I107I|CACNA1G_ENST00000514717.1_Silent_p.I107I|CACNA1G_ENST00000503485.1_Silent_p.I107I|CACNA1G_ENST00000507510.2_Silent_p.I107I|CACNA1G_ENST00000515165.1_Silent_p.I107I|CACNA1G_ENST00000514181.1_Silent_p.I107I|CACNA1G_ENST00000502264.1_Silent_p.I107I|CACNA1G_ENST00000513964.1_Silent_p.I107I|CACNA1G_ENST00000507336.1_Silent_p.I107I|CACNA1G_ENST00000360761.4_Silent_p.I107I|CACNA1G_ENST00000510366.1_Silent_p.I107I|CACNA1G_ENST00000512389.1_Silent_p.I107I|CACNA1G_ENST00000442258.2_Silent_p.I107I|CACNA1G_ENST00000416767.4_Silent_p.I107I|CACNA1G_ENST00000507609.1_Silent_p.I107I|CACNA1G_ENST00000513689.2_Silent_p.I107I|CACNA1G_ENST00000507896.1_Silent_p.I107I|CACNA1G_ENST00000510115.1_Silent_p.I107I|CACNA1G_ENST00000358244.5_Silent_p.I107I|CACNA1G_ENST00000354983.4_Silent_p.I107I|CACNA1G_ENST00000514079.1_Silent_p.I107I|CACNA1G_ENST00000429973.2_Silent_p.I107I NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 107 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.I107I(3) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCGAGGACATCGCCTGTGACT 0.562000 23 15 0 0 0.00047179 0 0 CCDC88C 440193 broad.mit.edu 37 14 91763744 91763744 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:91763744G>A ENST00000389857.6 - 22 3957 c.3871C>T c.(3871-3873)Ctg>Ttg p.L1291L NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1291 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTGAGCTCCAGCTGCGCGTTG 0.602000 13 16 0 0 0.00185496 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10922464 10922464 + Missense_Mutation SNP G G C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:10922464G>C ENST00000381661.3 + 12 1128 c.1019G>C c.(1018-1020)cGa>cCa p.R340P ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.R386P NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 386 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) TCTGTCTTCCGACATCTGGAT 0.443000 40 28 0 0 0.00128727 0 0 GPR148 344561 broad.mit.edu 37 2 131487309 131487309 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:131487309G>A ENST00000309926.4 + 1 667 c.585G>A c.(583-585)gaG>gaA p.E195E NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 195 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CCCAGCTGGAGGAGCAAGGAG 0.582000 22 69 0 0 0.00229938 0 0 LPO 4025 broad.mit.edu 37 17 56327781 56327781 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:56327781G>A ENST00000262290.4 + 7 895 c.579G>A c.(577-579)cgG>cgA p.R193R LPO_ENST00000421678.2_Silent_p.R110R|LPO_ENST00000543544.1_Silent_p.R134R|LPO_ENST00000582328.1_Silent_p.R110R NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 193 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TGTAGGCCCGGGAGGTATCTA 0.473000 OREG0024609 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 38 0 0 0.000953801 0 0 TMEM176B 28959 broad.mit.edu 37 7 150491073 150491073 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150491073G>A ENST00000447204.2 - 3 663 c.291C>T c.(289-291)ggC>ggT p.G97G TMEM176B_ENST00000326442.5_Silent_p.G97G|TMEM176B_ENST00000492607.1_Silent_p.G97G|TMEM176B_ENST00000434545.1_Silent_p.G97G|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000429904.2_Silent_p.G97G NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 97 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAAGGCACAGCCTGAGGCAC 0.567000 27 124 0 0 0.00127121 0 0 CD300C 10871 broad.mit.edu 37 17 72540920 72540920 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:72540920C>T ENST00000330793.1 - 2 588 c.228G>A c.(226-228)ggG>ggA p.G76G NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 76 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 CATTCCTTTTCCCTGCTGACC 0.532000 23 64 0 0 0.00229938 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987878 50987878 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:50987878G>A ENST00000395676.2 + 1 1417 c.1283G>A c.(1282-1284)tGg>tAg p.W428* NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 428 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACAGACGCCTGGACCCCACGC 0.672000 72 116 0 0 0.000781405 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20858930 20858930 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:20858930C>T ENST00000381552.1 + 4 687 c.319C>T c.(319-321)Cac>Tac p.H107Y SLCO1C1_ENST00000540354.1_Missense_Mutation_p.H107Y|SLCO1C1_ENST00000545102.1_5'UTR|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.H107Y|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.H107Y Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 107 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AGCCAAACTTCACAGGCCAAA 0.373000 57 106 0 0 0.000781405 0 0 OR4C11 219429 broad.mit.edu 37 11 55371061 55371061 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55371061G>A ENST00000302231.4 - 1 813 c.789C>T c.(787-789)ttC>ttT p.F263F NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TGTCCATGGGGAAAGTGGTCG 0.433000 12 2 0 0 0.00136819 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629048 51629048 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51629048G>A ENST00000440804.3 + 2 683 c.616G>A c.(616-618)Gac>Aac p.D206N SIGLEC9_ENST00000250360.3_Missense_Mutation_p.D206N NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 206 Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACAGCCCCAGGACCATGGCAC 0.657000 46 32 0 0 0.00285205 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106453086 106453086 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106453086G>A ENST00000390594.2 - 0 84 CCAAGAAGAGGATCCTCCAGG 0.542000 8 24 0 0 0.000673444 0 0 CLSTN2 64084 broad.mit.edu 37 3 140122557 140122557 + Missense_Mutation SNP C C T rs150165907 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:140122557C>T ENST00000458420.3 + 3 509 c.319C>T c.(319-321)Cgt>Tgt p.R107C NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 107 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding 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 GGGCCGGCTCCGTGCCAAGAG 0.562000 HNSCC(16;0.037) 47 104 0 0 0.000781405 0 0 C17orf78 284099 broad.mit.edu 37 17 35736299 35736299 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:35736299G>A ENST00000300618.4 + 3 420 c.370G>A c.(370-372)Gga>Aga p.G124R C17orf78_ENST00000586700.1_Missense_Mutation_p.G124R|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 124 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) GTTTCAGACTGGATCTCTTCT 0.483000 28 101 0 0 0.00106085 0 0 CCDC96 257236 broad.mit.edu 37 4 7043099 7043099 + Missense_Mutation SNP G G A rs34275081 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:7043099G>A ENST00000310085.4 - 1 1629 c.1567C>T c.(1567-1569)Cgg>Tgg p.R523W RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 523 endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 TCCAGGCGCCGGTGAAGCAGT 0.557000 22 52 0 0 0.00229938 0 0 BCL11A 53335 broad.mit.edu 37 2 60688589 60688589 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:60688589C>T ENST00000335712.6 - 4 1685 c.1458G>A c.(1456-1458)gaG>gaA p.E486E BCL11A_ENST00000537768.1_Silent_p.E155E|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.E486E|BCL11A_ENST00000538214.1_Silent_p.E452E|BCL11A_ENST00000358510.4_Silent_p.E452E NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 486 Glu-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) cctcctcttcctcctcgtccc 0.637000 T IGH@ B-CLL 40 142 0 0 0.00128727 0 0 GALNTL6 442117 broad.mit.edu 37 4 173730571 173730571 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:173730571C>T ENST00000506823.1 + 6 1270 c.613C>T c.(613-615)Cgc>Tgc p.R205C GALNTL6_ENST00000508122.1_Missense_Mutation_p.R188C NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 205 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GAGGATTGTTCGCACCAAGAA 0.478000 12 36 0 0 0.000422831 0 0 AADACL2 344752 broad.mit.edu 37 3 151474812 151474812 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:151474812C>T ENST00000356517.3 + 5 745 c.636C>T c.(634-636)atC>atT p.I212I RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 212 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AACATAAAATCAAGATGCAAG 0.328000 20 22 0 0 0.00121646 0 0 EPHA4 2043 broad.mit.edu 37 2 222347194 222347194 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:222347194G>A ENST00000281821.2 - 5 1237 c.1196C>T c.(1195-1197)tCc>tTc p.S399F EPHA4_ENST00000409938.1_Missense_Mutation_p.S399F|EPHA4_ENST00000409854.1_Missense_Mutation_p.S399F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S348F NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 399 Fibronectin type-III 1. S -> F (in a metastatic melanoma sample; somatic mutation). integral to plasma membrane ATP binding|ephrin receptor activity p.S399F(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GTCAGTGATGGAGACTTTGGT 0.502000 152 210 0 0 0.000781405 0 0 SRP68 6730 broad.mit.edu 37 17 74060080 74060080 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:74060080C>A ENST00000307877.2 - 4 699 c.538G>T c.(538-540)Gcc>Tcc p.A180S SRP68_ENST00000539137.1_Missense_Mutation_p.A142S|SRP68_ENST00000355113.5_Missense_Mutation_p.A79S NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 180 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 TTGGTCTTGGCATCCACGCGA 0.443000 40 113 5.44703e-19 2.01352e-18 0.00222228 1 0 PITPNM3 83394 broad.mit.edu 37 17 6367089 6367089 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:6367089C>T ENST00000262483.8 - 17 2356 c.2269G>A c.(2269-2271)Gac>Aac p.D757N ACKR6_ENST00000421306.3_Missense_Mutation_p.D721N|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 ACCTTGGGGTCGCTTCCCATG 0.632000 7 3 0 0 0.000274275 0 0 ANK3 288 broad.mit.edu 37 10 61941113 61941113 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:61941113C>T ENST00000280772.1 - 18 2349 c.2158G>A c.(2158-2160)Ggg>Agg p.G720R ANK3_ENST00000503366.1_Missense_Mutation_p.G703R|ANK3_ENST00000373827.2_Missense_Mutation_p.G714R NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 720 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACATGAGCCCCTTGGTTTACG 0.498000 44 71 0 0 0.000781405 0 0 OR4N4 283694 broad.mit.edu 37 15 22382583 22382583 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:22382583C>T ENST00000328795.4 + 1 202 c.111C>T c.(109-111)atC>atT p.I37I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTACCTTATCATCCTCCCTG 0.433000 45 256 0 0 0.000781405 0 0 CACNA1F 778 broad.mit.edu 37 X 49061645 49061645 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:49061645G>A ENST00000376265.2 - 48 5947 c.5886C>T c.(5884-5886)ttC>ttT p.F1962F CACNA1F_ENST00000323022.5_Silent_p.F1951F|CACNA1F_ENST00000376251.1_Silent_p.F1897F NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1962 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCTCCTCATCGAAGCGGGAGA 0.607000 13 0 0 0 0.000422831 0 0 NPR1 4881 broad.mit.edu 37 1 153659521 153659521 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:153659521G>A ENST00000368680.3 + 12 2365 c.1893G>A c.(1891-1893)ctG>ctA p.L631L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 631 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCATCACCCTGGACTGGATGT 0.562000 13 57 0 0 0.00074312 0 0 RGPD3 653489 broad.mit.edu 37 2 107041433 107041433 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:107041433G>A ENST00000409886.3 - 20 3077 c.2990C>T c.(2989-2991)tCa>tTa p.S997L RGPD3_ENST00000304514.7_Missense_Mutation_p.S997L NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 997 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCCAGCACCTGAAAATCCCTT 0.378000 100 147 0 0 0.000781405 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966780 41966780 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:41966780G>A ENST00000298919.7 + 10 1807 c.1419G>A c.(1417-1419)aaG>aaA p.K473K PDZRN4_ENST00000402685.2_Silent_p.K733K|PDZRN4_ENST00000539469.2_Silent_p.K475K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 733 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGTCTGACAAGGACAGTTCTA 0.478000 24 61 0 0 0.00278032 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098255 13098255 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:13098255C>T ENST00000399002.2 + 8 1309 c.1035C>T c.(1033-1035)ggC>ggT p.G345G SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 345 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GGGCCGTGGGCCCAACCGGCC 0.502000 61 35 0 0 0.000781405 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41455032 41455032 + RNA SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41455032T>G ENST00000599198.1 + 0 1423 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CCTCCAGAACTTCTCCGTGGC 0.562000 3 20 0 0 6.4e-05 0 0 OR4F15 390649 broad.mit.edu 37 15 102359018 102359018 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:102359018C>T ENST00000332238.4 + 1 653 c.629C>T c.(628-630)tCc>tTc p.S210F NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTGTGGGCTCCTTTGTCTTG 0.473000 23 76 0 0 0.000720815 0 0 RGS9BP 388531 broad.mit.edu 37 19 33167751 33167751 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:33167751C>T ENST00000334176.3 + 1 1439 c.582C>T c.(580-582)tcC>tcT p.S194S NM_207391.2 NP_997274.2 Q6ZS82 R9BP_HUMAN regulator of G protein signaling 9 binding protein 194 SNARE-like (By similarity). negative regulation of signal transduction integral to membrane central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) CCGGCCCCTCCTCGGTCGTGT 0.716000 8 12 0 0 0.000274275 0 0 ECEL1 9427 broad.mit.edu 37 2 233348801 233348801 + Silent SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:233348801C>G ENST00000304546.1 - 7 1527 c.1317G>C c.(1315-1317)cgG>cgC p.R439R ECEL1_ENST00000409941.1_Silent_p.R439R NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 439 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCAAGCAGACCCGGGCCAGCT 0.627000 30 61 0 0 0.000692331 0 0 TANC2 26115 broad.mit.edu 37 17 61498624 61498624 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:61498624G>A ENST00000424789.2 + 25 5285 c.5281G>A c.(5281-5283)Gaa>Aaa p.E1761K RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1771K NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1761 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAACCCTAACGAAATCAAACC 0.507000 119 68 0 0 0.000781405 0 0 CCDC105 126402 broad.mit.edu 37 19 15132229 15132229 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15132229A>T ENST00000292574.3 + 4 1021 c.939A>T c.(937-939)gaA>gaT p.E313D NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 313 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CCTTGGTAGAAATGGCAAAGA 0.602000 31 20 0 0 0.00058488 0 0 NUBPL 80224 broad.mit.edu 37 14 32142590 32142590 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:32142590G>A ENST00000281081.7 + 5 457 c.412G>A c.(412-414)Ggt>Agt p.G138S NUBPL_ENST00000536705.1_Missense_Mutation_p.G42S NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 138 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) CTTGAATTATGGTATTGCTTG 0.274000 5 21 0 0 0.000602214 0 0 ITPR1 3708 broad.mit.edu 37 3 4714885 4714885 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:4714885C>T ENST00000302640.8 + 20 2575 c.2225C>T c.(2224-2226)tCa>tTa p.S742L ITPR1_ENST00000456211.2_Missense_Mutation_p.S742L|ITPR1_ENST00000357086.4_Missense_Mutation_p.S757L|ITPR1_ENST00000423119.2_Missense_Mutation_p.S757L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.S757L|ITPR1_ENST00000443694.2_Missense_Mutation_p.S742L NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 757 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AACGAAATCTCAGGCCAGCTG 0.547000 9 33 0 0 0.000274275 0 0 LATS2 26524 broad.mit.edu 37 13 21562189 21562189 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:21562189G>A ENST00000382592.4 - 4 2135 c.1730C>T c.(1729-1731)cCc>cTc p.P577L LATS2_ENST00000542899.1_Missense_Mutation_p.P577L NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 577 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GACGGGAACGGGAGAGGTCTG 0.572000 53 52 0 0 0.000781405 0 0 WFDC8 90199 broad.mit.edu 37 20 44184469 44184469 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:44184469G>A ENST00000357199.4 - 4 394 c.316C>T c.(316-318)Cat>Tat p.H106Y WFDC8_ENST00000289953.2_Missense_Mutation_p.H106Y NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 106 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TGTGCCTCATGATTACAGTTT 0.453000 22 65 0 0 0.00229938 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444391 26444391 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:26444391T>G ENST00000244519.2 + 4 535 c.292T>G c.(292-294)Tcg>Gcg p.S98A BTN3A3_ENST00000339789.4_Missense_Mutation_p.S56A|BTN3A3_ENST00000361232.3_Missense_Mutation_p.S56A NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 98 Ig-like V-type 1. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 AGGGAGAACTTCGATTCTGCG 0.527000 17 76 0 0 0.00278032 0 0 C3P1 388503 broad.mit.edu 37 19 10157457 10157457 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:10157457G>A ENST00000495140.1 + 0 1056 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 ATGCCTGTGCGGACCTTGTTC 0.527000 13 69 0 0 0.00185496 0 0 OR9A4 130075 broad.mit.edu 37 7 141618715 141618715 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141618715C>T ENST00000548136.1 + 1 99 c.40C>T c.(40-42)Ctt>Ttt p.L14F MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ATTTTATCTCCTTGGCTTCCC 0.378000 88 137 0 0 0.000781405 0 0 ZDHHC7 55625 broad.mit.edu 37 16 85010019 85010019 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:85010019G>A ENST00000313732.4 - 8 1209 c.857C>T c.(856-858)cCc>cTc p.P286L ZDHHC7_ENST00000564466.1_Missense_Mutation_p.P323L NM_017740.2 NP_060210.2 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 286 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 GCCCACAAAGGGATTCATCCA 0.577000 46 30 0 0 0.000781405 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993259 140993259 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:140993259G>A ENST00000285879.4 + 4 355 c.69G>A c.(67-69)caG>caA p.Q23Q MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 23 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGAGTCCTCAGAGTTGTCCTG 0.567000 HNSCC(15;0.026) 53 2 0 0 0.000781405 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672962 141672962 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141672962C>T ENST00000547270.1 - 1 611 c.528G>A c.(526-528)atG>atA p.M176I NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 176 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TATTGTTATTCATGAATAGCA 0.408000 13 67 0 0 0.00244969 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763134 92763134 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:92763134C>T ENST00000318238.4 - 5 3367 c.2151G>A c.(2149-2151)aaG>aaA p.K717K SAMD9L_ENST00000411955.1_Silent_p.K717K|SAMD9L_ENST00000437805.1_Silent_p.K717K NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 717 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AATCTTTAAGCTTTTCATAAC 0.368000 26 18 0 0 0.000720815 0 0 PHOSPHO2 493911 broad.mit.edu 37 2 170558118 170558118 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170558118C>A ENST00000359744.3 + 4 1025 c.637C>A c.(637-639)Caa>Aaa p.Q213K KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1 NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 213 metal ion binding|pyridoxal phosphatase activity breast(1)|large_intestine(1)|lung(6)|skin(2) 10 CAGAATGTCTCAAAATCTTGA 0.353000 6 127 0.00198382 0.00723911 0.00198382 1 0 SPEF2 79925 broad.mit.edu 37 5 35779244 35779244 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35779244C>T ENST00000440995.2 + 30 4228 c.4228C>T c.(4228-4230)Cgc>Tgc p.R1410C SPEF2_ENST00000356031.3_Missense_Mutation_p.R1415C|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1415 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGACGTAGCTCGCTATCACAT 0.323000 9 22 0 0 0.000673444 0 0 ZNF267 10308 broad.mit.edu 37 16 31926270 31926270 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31926270C>T ENST00000300870.10 + 4 909 c.700C>T c.(700-702)Cat>Tat p.H234Y RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 234 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 CCCTAAAAATCATCAGGAAAA 0.308000 8 13 0 0 0.000157383 0 0 PRLHR 2834 broad.mit.edu 37 10 120353908 120353908 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:120353908G>A ENST00000239032.2 - 2 987 c.849C>T c.(847-849)atC>atT p.I283I PRLHR_ENST00000369169.1_Silent_p.I283I NM_004248.2 NP_004239.1 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 283 I -> V (in dbSNP:rs1613448). female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) ACACCACCACGATCACCACCA 0.692000 31 23 0 0 0.00111076 0 0 CXADRP3 440224 broad.mit.edu 37 18 14479245 14479245 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:14479245C>T ENST00000581457.1 - 0 663 NR_024076.1 CACAGGAGCACGAAGCGCAGC 0.612000 9 8 0 0 0.000673444 0 0 CCL7 6354 broad.mit.edu 37 17 32598269 32598269 + Missense_Mutation SNP C C T rs149253093 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:32598269C>T ENST00000378569.2 + 2 251 c.181C>T c.(181-183)Cgg>Tgg p.R61W CCL7_ENST00000200307.4_Missense_Mutation_p.R71W|CCL7_ENST00000394627.1_Silent_p.P78P|CCL7_ENST00000394630.3_Intron NM_006273.2 NP_006264.2 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 61 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding p.R61W(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) CCACTGTCCCCGGGAAGCTGT 0.488000 26 49 0 0 0.00178596 0 0 INSRR 3645 broad.mit.edu 37 1 156824046 156824046 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156824046C>T ENST00000368195.3 - 2 531 c.135G>A c.(133-135)ctG>ctA p.L45L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 45 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGCAGTTCTCCAGCTGACGAA 0.627000 7 36 0 0 0.00198382 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409675 59409675 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:59409675G>A ENST00000301645.3 - 3 533 c.396C>T c.(394-396)acC>acT p.T132T NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 132 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GGCCCTGCAGGGTTTTGATGA 0.458000 Neonatal Giant Cell Hepatitis 28 56 0 0 0.000878237 0 0 EYA2 2139 broad.mit.edu 37 20 45618739 45618739 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:45618739G>A ENST00000327619.5 + 2 464 c.90G>A c.(88-90)tgG>tgA p.W30* EYA2_ENST00000357410.3_Nonsense_Mutation_p.W30*|EYA2_ENST00000317304.6_Nonsense_Mutation_p.W30* NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 30 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CTGCTGTGTGGACTCTGAGTG 0.498000 16 39 0 0 0.000958276 0 0 ACACB 32 broad.mit.edu 37 12 109694021 109694021 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109694021C>T ENST00000338432.7 + 45 6362 c.6243C>T c.(6241-6243)acC>acT p.T2081T ACACB_ENST00000377854.5_Silent_p.T2011T|ACACB_ENST00000377848.3_Silent_p.T2081T|ACACB_ENST00000543201.1_Silent_p.T747T O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2081 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGGCGCAGACCGTGGTGACAG 0.602000 6 37 0 0 0.00198382 0 0 GSDMA 284110 broad.mit.edu 37 17 38130527 38130527 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38130527G>A ENST00000301659.4 + 9 871 c.751_splice c.e9-1 p.G251_splice NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 251 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TCCCCATAGGGGACGTACACG 0.557000 6 9 0 0 0.000442599 0 0 MASP1 5648 broad.mit.edu 37 3 187003734 187003734 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:187003734G>A ENST00000337774.5 - 2 505 c.116C>T c.(115-117)tCc>tTc p.S39F MASP1_ENST00000392472.2_Intron|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.S39F|MASP1_ENST00000169293.6_Missense_Mutation_p.S39F|MASP1_ENST00000392470.2_Missense_Mutation_p.S13F NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 39 CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACTGGGATAGGAGTCTGGATA 0.478000 21 51 0 0 0.00278032 0 0 TP53BP1 7158 broad.mit.edu 37 15 43712807 43712807 + Silent SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:43712807A>T ENST00000263801.3 - 21 4614 c.4362T>A c.(4360-4362)gcT>gcA p.A1454A TP53BP1_ENST00000382039.3_Silent_p.A1409A|TP53BP1_ENST00000382044.4_Silent_p.A1459A|TP53BP1_ENST00000450115.2_Silent_p.A1459A NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1454 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GCAAAGCACCAGCACCCACAT 0.522000 Other conserved DNA damage response genes 11 55 0 0 0.000673444 0 0 ZNF527 84503 broad.mit.edu 37 19 37879873 37879873 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:37879873G>A ENST00000436120.2 + 5 1029 c.922G>A c.(922-924)Gga>Aga p.G308R ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAATGACTGTGGAAAAGCCTT 0.393000 62 54 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179597594 179597594 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179597594T>A ENST00000589042.1 - 55 16533 c.16309A>T c.(16309-16311)Agc>Tgc p.S5437C TTN_ENST00000591111.1_Missense_Mutation_p.S5120C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4193C|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5120 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTCTTTGCTTCCCACGGAA 0.433000 9 21 0 0 0.000673444 0 0 CAP2 10486 broad.mit.edu 37 6 17426906 17426906 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:17426906G>A ENST00000229922.2 + 3 739 c.207G>A c.(205-207)ggG>ggA p.G69G CAP2_ENST00000493172.1_Silent_p.G69G|CAP2_ENST00000489374.1_Silent_p.G69G|CAP2_ENST00000378990.2_Silent_p.G69G|CAP2_ENST00000465994.1_Silent_p.G69G NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 69 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TCCTTGCTGGGGACGTGGAGA 0.517000 15 54 0 0 0.000422831 0 0 ZNF429 353088 broad.mit.edu 37 19 21720110 21720110 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:21720110C>T ENST00000358491.4 + 4 1463 c.1255C>T c.(1255-1257)Cat>Tat p.H419Y ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 CAAGAAAATTCATACTGGAGA 0.353000 12 35 0 0 0.00136819 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123687382 123687382 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:123687382G>A ENST00000606320.1 - 10 1776 c.1570C>T c.(1570-1572)Cag>Tag p.Q524* MPHOSPH9_ENST00000392425.3_Nonsense_Mutation_p.Q372*|MPHOSPH9_ENST00000541076.2_Nonsense_Mutation_p.Q494*|MPHOSPH9_ENST00000302349.5_Nonsense_Mutation_p.Q372* Q99550 MPP9_HUMAN M-phase phosphoprotein 9 372 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TGGAATGTCTGATTTTTCCAA 0.398000 49 88 0 0 0.000781405 0 0 FRMD7 90167 broad.mit.edu 37 X 131212235 131212235 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:131212235C>T ENST00000298542.4 - 12 1985 c.1810G>A c.(1810-1812)Ggg>Agg p.G604R FRMD7_ENST00000370879.1_Missense_Mutation_p.G484R|FRMD7_ENST00000464296.1_Missense_Mutation_p.G589R NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 604 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding 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) AATTCTGACCCAAAAGGAAAA 0.423000 18 23 0 0 0.000958276 0 0 TEX29 121793 broad.mit.edu 37 13 111995208 111995208 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:111995208G>A ENST00000283547.1 + 5 474 c.345G>A c.(343-345)ggG>ggA p.G115G NM_152324.1 NP_689537.1 Q8N6K0 CM016_HUMAN testis expressed 29 115 integral to membrane GCAAGTTAGGGCTGAAGCCTG 0.562000 46 1 0 0 0.000781405 0 0 CECR2 27443 broad.mit.edu 37 22 18021603 18021603 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:18021603C>T ENST00000262608.8 + 14 1897 c.1897C>T c.(1897-1899)Ccg>Tcg p.P633S CECR2_ENST00000400585.2_Missense_Mutation_p.P491S|CECR2_ENST00000400573.4_Missense_Mutation_p.P632S NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 674 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CTCTGGAGTCCCGGAGCCACA 0.597000 8 93 0 0 0.000157383 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999685 46999685 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46999685G>A ENST00000374314.4 + 1 1760 c.805G>A c.(805-807)Ggg>Agg p.G269R GPRIN2_ENST00000374317.1_Missense_Mutation_p.G269R O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 269 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GAGCGAGTCTGGGCTGCAGGC 0.627000 20 90 0 0 0.00152264 0 0 IWS1 55677 broad.mit.edu 37 2 128262702 128262702 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:128262702C>T ENST00000295321.4 - 3 1036 c.777G>A c.(775-777)caG>caA p.Q259Q IWS1_ENST00000455721.2_Silent_p.Q266Q|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 259 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) AGTCACTGGCCTGGTGCCTCG 0.537000 52 142 0 0 0.000781405 0 0 ARSE 415 broad.mit.edu 37 X 2867429 2867429 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:2867429C>T ENST00000545496.1 - 7 1136 c.845G>A c.(844-846)aGa>aAa p.R282K ARSE_ENST00000540563.1_Missense_Mutation_p.R212K|ARSE_ENST00000381134.3_Missense_Mutation_p.R257K P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 257 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTGTGGTTTCTCATCAGAAA 0.532000 42 3 0 0 0.00222228 0 0 LRP1B 53353 broad.mit.edu 37 2 141773462 141773462 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:141773462C>T ENST00000389484.3 - 13 2964 c.1993G>A c.(1993-1995)Gag>Aag p.E665K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 665 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCTTCCTCCCAGTCTGTC 0.408000 TSP Lung(27;0.18) 9 38 0 0 0.000673444 0 0 ZNF831 128611 broad.mit.edu 37 20 57829200 57829200 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:57829200G>A ENST00000371030.2 + 5 4436 c.4436G>A c.(4435-4437)gGa>gAa p.G1479E NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1479 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGTCCAAAGGAACTTTTCCC 0.493000 39 87 0 0 0.00285205 0 0 CCKAR 886 broad.mit.edu 37 4 26483788 26483788 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:26483788C>T ENST00000295589.3 - 5 953 c.759G>A c.(757-759)agG>agA p.R253R NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 253 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) TGCTAGGTTTCCTTTCTGGGT 0.582000 17 36 0 0 0.00074312 0 0 COBL 23242 broad.mit.edu 37 7 51095722 51095722 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:51095722G>A ENST00000395542.2 - 12 3501 c.3317C>T c.(3316-3318)cCa>cTa p.P1106L COBL_ENST00000265136.7_Missense_Mutation_p.P1024L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1024 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AGATGTGTGTGGAGGGGGTGG 0.632000 21 39 0 0 0.00229938 0 0 RYR1 6261 broad.mit.edu 37 19 39062679 39062679 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:39062679G>A ENST00000355481.4 + 94 13883 c.13752G>A c.(13750-13752)ggG>ggA p.G4584G RYR1_ENST00000359596.3_Silent_p.G4589G|RYR1_ENST00000360985.3_Silent_p.G4584G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4589 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTCCACCAGGGGAGGACGACA 0.607000 24 79 0 0 0.00127121 0 0 USH2A 7399 broad.mit.edu 37 1 216073442 216073442 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:216073442C>T ENST00000366943.2 - 40 7955 c.7569G>A c.(7567-7569)tgG>tgA p.W2523* RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.W2523* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2523 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAATGGAATCCAAGAACTAT 0.423000 HNSCC(13;0.011) 12 75 0 0 0.000422831 0 0 RNF150 57484 broad.mit.edu 37 4 142053480 142053480 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:142053480C>T ENST00000306799.3 - 1 1136 c.484_splice c.e1+1 p.A161_splice RNF150_ENST00000507500.1_Splice_Site_p.A161_splice|RNF150_ENST00000515673.1_Splice_Site_p.A161_splice|RNF150_ENST00000420921.2_Intron NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 161 PA. integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) GCCACTCACCCGCGTGGGGCA 0.667000 3 4 0 0 6.4e-05 0 0 MRPL45 84311 broad.mit.edu 37 17 36478092 36478092 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:36478092C>T ENST00000312513.5 + 7 905 c.744C>T c.(742-744)ttC>ttT p.F248F NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 248 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATGTTGTATTCGAAAAGCAGT 0.502000 30 90 0 0 0.001512 0 0 TELO2 9894 broad.mit.edu 37 16 1550438 1550438 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1550438C>T ENST00000262319.6 + 8 1372 c.1093C>T c.(1093-1095)Ctc>Ttc p.L365F NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 365 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CAAGGCTGTCCTCATCTGCCT 0.701000 5 16 0 0 0.00198382 0 0 SERPINE1 5054 broad.mit.edu 37 7 100771899 100771899 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:100771899A>C ENST00000223095.4 + 2 382 c.225A>C c.(223-225)ggA>ggC p.G75G SERPINE1_ENST00000445463.2_Silent_p.G60G NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 75 G -> V (in Ref. 7; CAA31208). angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CAACAGGAGGAGAAACCCAGC 0.577000 19 21 0 0 0.000958276 0 0 GJA1 2697 broad.mit.edu 37 6 121768817 121768817 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:121768817C>T ENST00000282561.3 + 2 981 c.824C>T c.(823-825)aCc>aTc p.T275I NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 275 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCCTCACCAACCGCTCCCCTC 0.517000 14 33 0 0 0.00185496 0 0 BRMS1L 84312 broad.mit.edu 37 14 36300622 36300622 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:36300622A>G ENST00000216807.7 + 2 348 c.149A>G c.(148-150)gAt>gGt p.D50G BRMS1L_ENST00000543183.1_Missense_Mutation_p.D2G NM_032352.3 NP_115728.2 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 50 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) ACAGAAATGGATGATGAAGAC 0.284000 21 57 0 0 0.00188189 0 0 PRRC2A 7916 broad.mit.edu 37 6 31594924 31594924 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31594924C>T ENST00000376033.2 + 11 1473 c.1239C>T c.(1237-1239)ccC>ccT p.P413P PRRC2A_ENST00000376007.4_Silent_p.P413P NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 413 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTCCCCTACCCCCACCTCACC 0.657000 7 10 0 0 0.000157383 0 0 TAF7L 54457 broad.mit.edu 37 X 100533048 100533048 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:100533048G>A ENST00000372907.3 - 8 835 c.824C>T c.(823-825)gCc>gTc p.A275V TAF7L_ENST00000372905.2_Missense_Mutation_p.A189V|TAF7L_ENST00000324762.6_Missense_Mutation_p.A189V|TAF7L_ENST00000356784.1_Missense_Mutation_p.A189V NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 275 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GGTACTTACGGCTTCAGCATC 0.453000 18 24 0 0 0.00152264 0 0 STON2 85439 broad.mit.edu 37 14 81862503 81862503 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:81862503G>A ENST00000555447.1 - 4 520 c.108C>T c.(106-108)ctC>ctT p.L36L STON2_ENST00000267540.2_Silent_p.L36L NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 36 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACAGTCCTGGGAGGTGCTCTT 0.572000 13 34 0 0 0.000308642 0 0 DHX36 170506 broad.mit.edu 37 3 154007607 154007607 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:154007607G>A ENST00000496811.1 - 16 1903 c.1823C>T c.(1822-1824)cCt>cTt p.P608L DHX36_ENST00000308361.6_Missense_Mutation_p.P608L|DHX36_ENST00000329463.5_Missense_Mutation_p.P594L|DHX36_ENST00000544526.1_Missense_Mutation_p.P594L NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 608 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCAATGACCAGGTTGAACTCT 0.353000 12 29 0 0 0.00244969 0 0 PTGS2 5743 broad.mit.edu 37 1 186645797 186645797 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186645797C>T ENST00000367468.5 - 7 908 c.772G>A c.(772-774)Gag>Aag p.E258K PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 258 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TAGATCATCTCTGCCTGAGTA 0.413000 7 38 0 0 0.00198382 0 0 OSMR 9180 broad.mit.edu 37 5 38886271 38886271 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:38886271C>T ENST00000274276.3 + 7 1372 c.970C>T c.(970-972)Ctt>Ttt p.L324F OSMR_ENST00000502536.1_Missense_Mutation_p.L324F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 324 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGTCAATATCCTTTTTAACCT 0.403000 15 40 0 0 0.000566183 0 0 DNAH17 8632 broad.mit.edu 37 17 76566443 76566443 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76566443G>A ENST00000389840.5 - 7 1054 c.930C>T c.(928-930)ttC>ttT p.F310F DNAH17_ENST00000585328.1_Silent_p.F310F dynein, axonemal, heavy chain 17 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) CCTTGGCAATGAAGGTGGGGA 0.602000 4 16 0 0 0.00116845 0 0 PMS2 5395 broad.mit.edu 37 7 6017358 6017358 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:6017358G>A ENST00000265849.7 - 14 2411 c.2306C>T c.(2305-2307)tCc>tTc p.S769F PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.S663F|PMS2_ENST00000382321.4_Missense_Mutation_p.S368F NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 769 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AGTTGGCAAGGAAATCAGTTT 0.463000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 18 121 0 0 0.00188189 0 0 HPX 3263 broad.mit.edu 37 11 6458377 6458377 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:6458377C>T ENST00000265983.3 - 7 834 c.734G>A c.(733-735)gGg>gAg p.G245E NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 245 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGTACTGTTCCCATGGCCAGT 0.547000 12 12 0 0 0.000978159 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506404 20506404 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:20506404G>A ENST00000377252.3 + 11 2013 c.1172G>A c.(1171-1173)cGa>cAa p.R391Q PLXDC2_ENST00000377242.3_Missense_Mutation_p.R342Q|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 391 Thr-rich. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 ACTTCTTCTCGAACCACCACA 0.443000 5 11 0 0 0.00198382 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140196 3140196 + Silent SNP G G A rs140343297 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:3140196G>A ENST00000252463.2 - 5 1161 c.1074C>T c.(1072-1074)ttC>ttT p.F358F ZSCAN10_ENST00000538082.2_Silent_p.F276F|ZSCAN10_ENST00000575108.1_Silent_p.F19F NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 358 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 AGCTCTGGCGGAAGCGGTGGC 0.701000 29 92 0 0 0.00283554 0 0 IRX6 79190 broad.mit.edu 37 16 55363139 55363139 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:55363139C>T ENST00000290552.7 + 5 2581 c.1249C>T c.(1249-1251)Ctg>Ttg p.L417L RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 417 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CAAGTTTGCCCTGCAGGGACT 0.642000 22 55 0 0 0.00278032 0 0 SMG1 23049 broad.mit.edu 37 16 18856882 18856882 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:18856882C>T ENST00000446231.2 - 39 6500 c.6088G>A c.(6088-6090)Gct>Act p.A2030T SMG1_ENST00000389467.3_Missense_Mutation_p.A2030T Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2030 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCTGCAGGAGCCGCTGTGATA 0.438000 38 92 0 0 0.00195071 0 0 LEMD1 93273 broad.mit.edu 37 1 205350880 205350880 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:205350880C>T ENST00000367153.4 - 6 554 c.452G>A c.(451-453)gGt>gAt p.G151D LEMD1_ENST00000367152.1_Missense_Mutation_p.G110D|LEMD1_ENST00000367154.1_Missense_Mutation_p.V104I|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367149.3_Missense_Mutation_p.V63I|LEMD1_ENST00000367151.2_Missense_Mutation_p.G110D|LEMD1_ENST00000391936.2_Missense_Mutation_p.V104I NM_001199050.1 NP_001185979.1 Q68G75 LEMD1_HUMAN LEM domain containing 1 151 integral to membrane|nuclear envelope breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) CACTGGGAAACCTTCTTCTCT 0.463000 52 218 0 0 0.000781405 0 0 BARX2 8538 broad.mit.edu 37 11 129306793 129306793 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129306793G>A ENST00000281437.4 + 2 431 c.335G>A c.(334-336)gGg>gAg p.G112E BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 112 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) GAGGCCCCAGGGGGCGAGGCC 0.687000 15 17 0 0 0.000422831 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170308 207170308 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207170308C>A ENST00000374423.3 + 5 1442 c.1056C>A c.(1054-1056)gcC>gcA p.A352A NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 352 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ACAAGACAGCCTTTTGGGAAC 0.383000 10 57 2.80697e-09 1.03362e-08 0.000978159 1 0 C6orf10 10665 broad.mit.edu 37 6 32260952 32260952 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32260952C>T ENST00000375015.4 - 26 1695 c.1495G>A c.(1495-1497)Gat>Aat p.D499N C6orf10_ENST00000375007.4_Missense_Mutation_p.D498N|C6orf10_ENST00000447241.2_Missense_Mutation_p.D500N|C6orf10_ENST00000533191.1_Missense_Mutation_p.D498N|C6orf10_ENST00000527965.1_Missense_Mutation_p.D484N|C6orf10_ENST00000442822.2_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 500 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 ttttctttatcattatttcct 0.358000 25 23 0 0 0.00278032 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617573 54617573 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:54617573C>T ENST00000302287.3 + 4 750 c.344C>T c.(343-345)tCc>tTc p.S115F VSTM2A_ENST00000407838.3_Missense_Mutation_p.S115F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.S114F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.S115F|VSTM2A_ENST00000404951.1_Missense_Mutation_p.S115F Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 115 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CTTCAGATTTCCAAAGTGAGG 0.423000 40 14 0 0 0.000680045 0 0 EFHD2 79180 broad.mit.edu 37 1 15752446 15752446 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:15752446C>T ENST00000375980.4 + 2 465 c.388C>T c.(388-390)Cac>Tac p.H130Y NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 130 EF-hand 2. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCCTCAGACCCACCTGGGCCT 0.577000 28 87 0 0 0.000878237 0 0 FUT10 84750 broad.mit.edu 37 8 33247208 33247208 + Missense_Mutation SNP G G A rs149780215 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:33247208G>A ENST00000327671.5 - 4 1116 c.485C>T c.(484-486)cCa>cTa p.P162L FUT10_ENST00000524021.1_Missense_Mutation_p.P134L|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.P100L|FUT10_ENST00000518672.1_Missense_Mutation_p.P134L NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 162 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GGTGATCACTGGTTTATGAAA 0.443000 30 27 0 0 0.00127121 0 0 XKR6 286046 broad.mit.edu 37 8 10756373 10756373 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:10756373G>A ENST00000416569.2 - 3 1041 c.1015C>T c.(1015-1017)Cac>Tac p.H339Y XKR6_ENST00000304437.2_Missense_Mutation_p.H60Y NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 339 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) AGCAGCTTGTGATAGGAGGCT 0.557000 41 96 0 0 0.00148497 0 0 EPRS 2058 broad.mit.edu 37 1 220174493 220174493 + Missense_Mutation SNP G G C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:220174493G>C ENST00000366923.3 - 17 2437 c.2168C>G c.(2167-2169)gCc>gGc p.A723G EPRS_ENST00000464052.1_5'UTR NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 723 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATTTTTTGTGGCTTCTACTTT 0.358000 25 66 0 0 0.00106085 0 0 DAPK1 1612 broad.mit.edu 37 9 90219968 90219968 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:90219968G>A ENST00000469640.2 + 3 537 c.162G>A c.(160-162)cgG>cgA p.R54R DAPK1_ENST00000472284.1_Silent_p.R54R|DAPK1_ENST00000358077.5_Silent_p.R54R|DAPK1_ENST00000408954.3_Silent_p.R54R|DAPK1_ENST00000491893.1_Silent_p.R54R P53355 DAPK1_HUMAN death-associated protein kinase 1 54 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCAGCCGGCGGGGTGTGAGCC 0.562000 Chronic Lymphocytic Leukemia, Familial Clustering of 33 28 0 0 0.00209593 0 0 FOXS1 2307 broad.mit.edu 37 20 30433274 30433274 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:30433274G>A ENST00000375978.3 - 1 146 c.72C>T c.(70-72)atC>atT p.I24I NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 24 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CAATAAGGGCGATGTAGCTGT 0.657000 31 85 0 0 0.000692331 0 0 ARID5B 84159 broad.mit.edu 37 10 63759869 63759869 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:63759869G>A ENST00000279873.7 + 4 932 c.522G>A c.(520-522)acG>acA p.T174T NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 174 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AGGAAGAAACGAACGTGATAG 0.468000 15 8 0 0 0.000308642 0 0 NTNG1 22854 broad.mit.edu 37 1 108023382 108023382 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:108023382C>T ENST00000370067.1 + 7 1930 c.1303C>T c.(1303-1305)Cag>Tag p.Q435* NTNG1_ENST00000370070.2_Nonsense_Mutation_p.Q435*|NTNG1_ENST00000370074.4_Nonsense_Mutation_p.Q413*|NTNG1_ENST00000370068.1_Nonsense_Mutation_p.Q514*|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.Q480*|NTNG1_ENST00000542803.1_Nonsense_Mutation_p.Q514*|NTNG1_ENST00000370071.2_Nonsense_Mutation_p.Q455*|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.Q514*|NTNG1_ENST00000370072.3_Nonsense_Mutation_p.Q469*|NTNG1_ENST00000370066.1_Nonsense_Mutation_p.Q455*|NTNG1_ENST00000370065.1_Nonsense_Mutation_p.Q469* Q9Y2I2 NTNG1_HUMAN netrin G1 514 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CGACTCTGGCCAGGGCGCGCC 0.706000 15 23 0 0 0.00244969 0 0 TIMP4 7079 broad.mit.edu 37 3 12195213 12195213 + Splice_Site SNP C C T rs113114666 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:12195213C>T ENST00000287814.4 - 5 988 c.e5-1 SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 metal ion binding|metalloendopeptidase inhibitor activity p.?(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 AGGTGGTGATCTAGAGTCATG 0.502000 58 164 0 0 0.000781405 0 0 BAAT 570 broad.mit.edu 37 9 104133253 104133253 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104133253C>T ENST00000259407.2 - 2 542 c.434G>A c.(433-435)gGc>gAc p.G145D BAAT_ENST00000395051.3_Missense_Mutation_p.G145D NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 145 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TCGAAGGCGGCCTTCTCGAAC 0.438000 16 92 0 0 0.000308642 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990818 39990818 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:39990818C>T ENST00000332312.3 - 4 1583 c.1391G>A c.(1390-1392)gGc>gAc p.G464D NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 464 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCCAAAGCCGCCCACTCCCCA 0.647000 20 95 0 0 0.00229938 0 0 CAPN9 10753 broad.mit.edu 37 1 230883448 230883448 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:230883448G>A ENST00000354537.1 + 1 288 c.206G>A c.(205-207)cGa>cAa p.R69Q CAPN9_ENST00000271971.2_Missense_Mutation_p.R69Q|CAPN9_ENST00000366666.2_Missense_Mutation_p.R69Q|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 69 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GTGTGGAAACGACCAGGGGTG 0.622000 9 41 0 0 0.000442599 0 0 MAP1A 4130 broad.mit.edu 37 15 43815729 43815729 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:43815729G>A ENST00000382031.1 + 5 2803 c.2772G>A c.(2770-2772)caG>caA p.Q924Q MAP1A_ENST00000399453.1_Silent_p.Q686Q|MAP1A_ENST00000300231.5_Silent_p.Q686Q P78559 MAP1A_HUMAN microtubule-associated protein 1A 686 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity 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) AACATATGCAGGAACCCTTGA 0.507000 11 18 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179621438 179621438 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179621438C>T ENST00000589042.1 - 46 10989 c.10765G>A c.(10765-10767)Gag>Aag p.E3589K TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3418K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3275 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGCTCTCCTCCTTTGTGAAA 0.403000 19 19 0 0 0.000958276 0 0 TENM4 26011 broad.mit.edu 37 11 78419499 78419499 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:78419499G>A ENST00000278550.7 - 27 4578 c.4116C>T c.(4114-4116)atC>atT p.I1372I NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CATTCTGATCGATGCGTCTGA 0.507000 12 13 0 0 0.00136819 0 0 RNF214 257160 broad.mit.edu 37 11 117105018 117105018 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:117105018G>A ENST00000530849.1 + 1 40 c.30G>A c.(28-30)gtG>gtA p.V10V RNF214_ENST00000531452.1_Silent_p.V10V|RNF214_ENST00000531287.1_Silent_p.V10V|RNF214_ENST00000300650.4_Silent_p.V10V Q8ND24 RN214_HUMAN ring finger protein 214 10 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CTGGTGTTGTGGCCAATGCCC 0.458000 40 48 0 0 0.000781405 0 0 PSG5 5673 broad.mit.edu 37 19 43679400 43679400 + Missense_Mutation SNP C C T rs138033994 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:43679400C>T ENST00000404580.1 - 4 1019 c.931G>A c.(931-933)Gaa>Aaa p.E311K PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.E311K|PSG5_ENST00000366175.3_Missense_Mutation_p.E311K|PSG5_ENST00000342951.6_Missense_Mutation_p.E311K|PSG5_ENST00000599812.1_Missense_Mutation_p.E404K Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 311 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TTGGAGCTTTCCTTGCCAGTA 0.463000 171 150 0 0 0.000781405 0 0 SDHC 6391 broad.mit.edu 37 1 161298193 161298193 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161298193C>T ENST00000367975.2 + 3 234 c.85C>T c.(85-87)Cct>Tct p.P29S SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.P29S|SDHC_ENST00000392169.2_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Intron NM_003001.3 NP_002992.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 29 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) TAGTGCTGTTCCTTTGGGAAC 0.368000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 63 120 0 0 0.000781405 0 0 NOS1 4842 broad.mit.edu 37 12 117723924 117723924 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:117723924C>T ENST00000317775.6 - 6 1960 c.1275G>A c.(1273-1275)caG>caA p.Q425Q NOS1_ENST00000338101.4_Silent_p.Q425Q|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 425 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCTTGGACCACTGGATCCTGC 0.542000 19 57 0 0 0.00152264 0 0 VAMP4 8674 broad.mit.edu 37 1 171679929 171679929 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171679929T>A ENST00000236192.7 - 5 576 c.190A>T c.(190-192)Att>Ttt p.I64F VAMP4_ENST00000367740.2_Missense_Mutation_p.I63F|VAMP4_ENST00000415773.1_Missense_Mutation_p.I63F|VAMP4_ENST00000482519.1_5'UTR NM_001185127.1|NM_003762.4 NP_001172056.1|NP_003753.2 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 64 v-SNARE coiled-coil homology. vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) ATGACATCAATAACTTCATCC 0.308000 19 71 0 0 0.000958276 0 0 FOS 2353 broad.mit.edu 37 14 75747346 75747346 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:75747346G>A ENST00000303562.4 + 3 686 c.477G>A c.(475-477)agG>agA p.R159R FOS_ENST00000555686.1_Silent_p.R45R|FOS_ENST00000555242.1_Silent_p.R159R|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_Silent_p.R11R NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 159 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD 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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) ACCGGAGGAGGGAGCTGACTG 0.453000 9 36 0 0 0.000442599 0 0 GRIA1 2890 broad.mit.edu 37 5 153077667 153077667 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:153077667G>A ENST00000285900.5 + 9 1541 c.1198G>A c.(1198-1200)Gat>Aat p.D400N GRIA1_ENST00000521843.2_Missense_Mutation_p.D331N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D410N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D320N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D410N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D400N NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 400 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCTGGGGGCGATAATTCAAG 0.478000 16 23 0 0 0.000566183 0 0 COL1A2 1278 broad.mit.edu 37 7 94055744 94055744 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:94055744G>A ENST00000297268.6 + 46 3478 c.3007G>A c.(3007-3009)Ggc>Agc p.G1003S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1003 G -> D (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGGCCCACAAGGCATTCGTGG 0.468000 HNSCC(75;0.22) 16 1 0 0 0.000422831 0 0 LIPG 9388 broad.mit.edu 37 18 47101752 47101752 + Silent SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:47101752C>G ENST00000261292.4 + 5 863 c.585C>G c.(583-585)gcC>gcG p.A195A LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.A231A|LIPG_ENST00000580036.1_Silent_p.A195A NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 195 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 TGGATCCTGCCGGGCCCATGT 0.552000 11 57 0 0 0.000978159 0 0 SPTBN4 57731 broad.mit.edu 37 19 41063071 41063071 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41063071G>A ENST00000352632.3 + 26 5518 c.5432G>A c.(5431-5433)gGa>gAa p.G1811E SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1811E|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1811E|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G554E|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1811E|SPTBN4_ENST00000392023.1_Missense_Mutation_p.G487E Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1811 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGGAAGGACGGACTGAACGAG 0.637000 25 35 0 0 0.00106085 0 0 ATM 472 broad.mit.edu 37 11 108115720 108115720 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:108115720C>T ENST00000278616.4 + 7 1253 c.868C>T c.(868-870)Cat>Tat p.H290Y ATM_ENST00000452508.2_Missense_Mutation_p.H290Y NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 290 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AATTTATATCCATCATCCGAA 0.294000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 8 27 0 0 0.000274275 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249705 140249705 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140249705C>T ENST00000398640.2 + 1 1017 c.1017C>T c.(1015-1017)atC>atT p.I339I PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGAAATCTTGGACACCA 0.493000 30 17 0 0 0.00209593 0 0 TMEM82 388595 broad.mit.edu 37 1 16069534 16069534 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16069534G>A ENST00000375782.1 + 3 319 c.181G>A c.(181-183)Gaa>Aaa p.E61K RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 61 Leu-rich. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCGGCGACCCGAAAAGGAGCG 0.697000 23 85 0 0 0.00106085 0 0 TRPC6 7225 broad.mit.edu 37 11 101347198 101347198 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:101347198C>T ENST00000344327.3 - 6 2002 c.1578G>A c.(1576-1578)tgG>tgA p.W526* TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.W410*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.W471* NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 526 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAAGCATGTTCCACAACTCAA 0.413000 22 24 0 0 0.00152264 0 0 RHOU 58480 broad.mit.edu 37 1 228879431 228879431 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228879431G>A ENST00000366691.3 + 3 1387 c.721G>A c.(721-723)Gat>Aat p.D241N NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 241 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) CAGGACTCCAGATAAAATGAA 0.438000 28 118 0 0 0.00178596 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74907720 74907720 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:74907720G>A ENST00000289575.5 + 10 1990 c.1595G>A c.(1594-1596)aGc>aAc p.S532N SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S416N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S510N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S277N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S388N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S305N|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S305N NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 532 Kazal-like. sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CTGGACAACAGCCAGGTGAGT 0.602000 8 14 0 0 0.000157383 0 0 FRAS1 80144 broad.mit.edu 37 4 79173594 79173594 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:79173594C>T ENST00000264895.6 + 5 798 c.358C>T c.(358-360)Cat>Tat p.H120Y FRAS1_ENST00000325942.6_Missense_Mutation_p.H120Y|FRAS1_ENST00000264899.6_Missense_Mutation_p.H120Y NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 120 VWFC 2. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTCTTGCAATCATGGGGAAGT 0.517000 17 37 0 0 0.000958276 0 0 ZFHX3 463 broad.mit.edu 37 16 72992847 72992847 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:72992847G>A ENST00000268489.5 - 2 1870 c.1198C>T c.(1198-1200)Ctg>Ttg p.L400L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 400 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGGTTCAACAGGGTGCTGGGG 0.622000 31 70 0 0 0.00127121 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927229 53927229 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53927229C>T ENST00000371445.3 + 2 716 c.661C>T c.(661-663)Ccg>Tcg p.P221S DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 221 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CTGCCCGTTCCCGCTGGGCTA 0.657000 23 67 0 0 0.00188189 0 0 DNAH17 8632 broad.mit.edu 37 17 76526587 76526587 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76526587G>A ENST00000389840.5 - 21 3246 c.3122C>T c.(3121-3123)tCc>tTc p.S1041F DNAH17_ENST00000585328.1_Missense_Mutation_p.S1038F dynein, axonemal, heavy chain 17 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) CTTCTCGTAGGAGTCGATCTG 0.632000 21 110 0 0 0.00047179 0 0 SPAG17 200162 broad.mit.edu 37 1 118624093 118624093 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:118624093C>T ENST00000336338.5 - 14 2000 c.1935G>A c.(1933-1935)caG>caA p.Q645Q NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 645 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCTGCCTTATCTGTTTAGCAA 0.413000 30 136 0 0 0.00178596 0 0 FGA 2243 broad.mit.edu 37 4 155505773 155505773 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:155505773C>T ENST00000302053.3 - 6 2182 c.2104G>A c.(2104-2106)Gag>Aag p.E702K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 702 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTTCCCCCTCGTCATTCAGG 0.488000 22 50 0 0 0.00229938 0 0 KCTD3 51133 broad.mit.edu 37 1 215793804 215793804 + Silent SNP C C T rs149998746 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:215793804C>T ENST00000259154.4 + 18 2586 c.2292C>T c.(2290-2292)ttC>ttT p.F764F KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 764 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GGGGAGGATTCCTTGGAAGAA 0.423000 10 64 0 0 0.000673444 0 0 TBX5 6910 broad.mit.edu 37 12 114836398 114836398 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:114836398G>A ENST00000310346.4 - 5 1156 c.490C>T c.(490-492)Cac>Tac p.H164Y TBX5_ENST00000526441.1_Missense_Mutation_p.H164Y|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.H114Y|TBX5_ENST00000405440.2_Missense_Mutation_p.H164Y NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 164 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GGGTCCAGGTGGTTGTTGGTG 0.602000 8 17 0 0 0.000274275 0 0 AGO2 27161 broad.mit.edu 37 8 141545600 141545600 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:141545600G>A ENST00000220592.5 - 17 2350 c.2238C>T c.(2236-2238)ttC>ttT p.F746F AGO2_ENST00000519980.1_Intron NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 GGTAGAAGTCGAACTCGGTGG 0.562000 28 79 0 0 0.00209593 0 0 SBF1 6305 broad.mit.edu 37 22 50906822 50906822 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:50906822G>A ENST00000380817.2 - 2 307 c.124C>T c.(124-126)Ccc>Tcc p.P42S SBF1_ENST00000390679.3_Missense_Mutation_p.P42S|SBF1_ENST00000348911.6_Missense_Mutation_p.P42S NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 42 UDENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity p.P42S(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-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) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) ATGCCCTGGGGGAATGGGTTG 0.657000 4 27 0 0 0.000602214 0 0 PTPN3 5774 broad.mit.edu 37 9 112151520 112151520 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:112151520C>T ENST00000412145.1 - 17 4406 c.1853G>A c.(1852-1854)cGa>cAa p.R618Q PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000394827.3_Missense_Mutation_p.R217Q|PTPN3_ENST00000262539.3_Missense_Mutation_p.R595Q|PTPN3_ENST00000374541.2_Missense_Mutation_p.R749Q|PTPN3_ENST00000446349.1_Missense_Mutation_p.R573Q NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 749 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TACCCGCCCTCGTTCTGTGAG 0.512000 13 30 0 0 0.00244969 0 0 THEG 51298 broad.mit.edu 37 19 374006 374006 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:374006C>T ENST00000342640.4 - 3 479 c.437G>A c.(436-438)gGa>gAa p.G146E THEG_ENST00000346878.2_Intron NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 146 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding 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) ACCACAGCGTCCCTTCCTGCG 0.607000 13 6 0 0 0.000308642 0 0 MYH6 4624 broad.mit.edu 37 14 23863047 23863047 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23863047G>A ENST00000405093.3 - 22 2826 c.2756C>T c.(2755-2757)gCc>gTc p.A919V MYH6_ENST00000356287.3_Missense_Mutation_p.A919V NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 919 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.A919V(2) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTTACTTTGGCCTCCAGCTG 0.527000 28 78 0 0 0.000720815 0 0 HCN1 348980 broad.mit.edu 37 5 45303919 45303919 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:45303919C>T ENST00000303230.4 - 6 1457 c.1400G>A c.(1399-1401)cGg>cAg p.R467Q NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 467 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CACCAGTTTCCGACAGTTGAA 0.358000 12 46 0 0 0.00185496 0 0 OR51G2 81282 broad.mit.edu 37 11 4936407 4936407 + Missense_Mutation SNP G G A rs35090253 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:4936407G>A ENST00000322013.3 - 1 515 c.487C>T c.(487-489)Cca>Tca p.P163S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGGTAATGGAAAAATGAGT 0.473000 8 10 0 0 0.000274275 0 0 AFP 174 broad.mit.edu 37 4 74303947 74303947 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:74303947A>T ENST00000395792.2 + 3 294 c.194A>T c.(193-195)aAa>aTa p.K65I AFP_ENST00000226359.2_Missense_Mutation_p.K65I NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 65 Albumin 1. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAAGTAAGCAAAATGGTGAAA 0.393000 Alpha-Fetoprotein, Hereditary Persistence of 16 29 0 0 0.000422831 0 0 BPIFA1 51297 broad.mit.edu 37 20 31825584 31825584 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31825584G>A ENST00000354297.4 + 2 138 c.67G>A c.(67-69)Ggc>Agc p.G23S BPIFA1_ENST00000375413.4_Missense_Mutation_p.G23S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.G23S NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 23 innate immune response extracellular region lipid binding CCAGTTTGGAGGCCTGCCCGT 0.547000 17 64 0 0 0.00074312 0 0 LAMA1 284217 broad.mit.edu 37 18 6966186 6966186 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6966186G>A ENST00000389658.3 - 49 7103 c.7010C>T c.(7009-7011)tCa>tTa p.S2337L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2337 Laminin G-like 2. 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 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) TCCATTAGGTGAAAAGGTATT 0.473000 10 45 0 0 0.000442599 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95119555 95119555 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:95119555C>T ENST00000379982.3 + 10 2019 c.1511C>T c.(1510-1512)tCc>tTc p.S504F GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.S135F NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 504 Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) TACCAAGTGTCCAGACTGCAG 0.483000 52 111 0 0 0.000781405 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987681 50987681 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:50987681C>T ENST00000395676.2 + 1 1220 c.1086C>T c.(1084-1086)atC>atT p.I362I NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 362 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGGGGGGCATCCGTGGCTCCG 0.662000 21 117 0 0 0.00229938 0 0 LATS1 9113 broad.mit.edu 37 6 150004522 150004522 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:150004522G>A ENST00000543571.1 - 4 2250 c.1703C>T c.(1702-1704)cCa>cTa p.P568L LATS1_ENST00000253339.5_Missense_Mutation_p.P568L|LATS1_ENST00000392273.3_Missense_Mutation_p.P568L|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 568 Interaction with YAP1. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGGAACAGATGGGTTTTGGTG 0.468000 48 58 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179605086 179605086 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179605086G>A ENST00000589042.1 - 48 13098 c.12874C>T c.(12874-12876)Cct>Tct p.P4292S TTN_ENST00000591111.1_Missense_Mutation_p.P3975S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4054S|TTN_ENST00000342175.6_Missense_Mutation_p.P4121S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.P3929S|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3975 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTCTGAAGGGACTAGGGGC 0.473000 11 14 0 0 0.000673444 0 0 CACNA1E 777 broad.mit.edu 37 1 181762920 181762920 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181762920G>A ENST00000357570.5 + 45 6183 c.5871G>A c.(5869-5871)gtG>gtA p.V1957V CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Silent_p.V1987V|CACNA1E_ENST00000367573.2_Silent_p.V2006V|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2006 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTCTGACTGTGGATCCCCAGG 0.502000 16 24 0 0 0.000958276 0 0 GTSF1 121355 broad.mit.edu 37 12 54856450 54856450 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:54856450G>A ENST00000552397.1 - 5 1200 c.304C>T c.(304-306)Cct>Tct p.P102S GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.P102S|RP11-753H16.5_ENST00000552785.1_RNA Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 102 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) TCATCGCAAGGAGGGCACTGC 0.438000 42 83 0 0 0.000781405 0 0 BRINP1 1620 broad.mit.edu 37 9 121929824 121929824 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:121929824C>T ENST00000265922.3 - 8 2285 c.1824G>A c.(1822-1824)tgG>tgA p.W608* DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 608 cell cycle arrest|cell death cytoplasm protein binding 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 AAAATGTTTTCCACCGATTGC 0.557000 40 105 0 0 0.00148497 0 0 MRPL1 65008 broad.mit.edu 37 4 78808408 78808408 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:78808408G>T ENST00000315567.8 + 5 850 c.521G>T c.(520-522)gGa>gTa p.G174V MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 174 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 GAAGAAAATGGAGCTGCATTT 0.328000 12 32 4.3838e-07 1.61143e-06 0.00185496 1 0 GLI3 2737 broad.mit.edu 37 7 42004030 42004030 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:42004030G>A ENST00000395925.3 - 15 4725 c.4641C>T c.(4639-4641)ttC>ttT p.F1547F GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1547 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ACAGCGCTGGGAATGGGAGGG 0.567000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 9 60 0 0 0.000673444 0 0 EXD3 54932 broad.mit.edu 37 9 140245817 140245817 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:140245817G>A ENST00000340951.4 - 13 1532 c.1337C>T c.(1336-1338)tCc>tTc p.S446F EXD3_ENST00000342129.4_Missense_Mutation_p.S126F NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 446 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CACCAGCCGGGAAAAGGCCTG 0.672000 11 26 0 0 0.00185496 0 0 PAPSS2 9060 broad.mit.edu 37 10 89474791 89474791 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:89474791C>A ENST00000361175.4 + 6 1058 c.689C>A c.(688-690)cCg>cAg p.P230Q PAPSS2_ENST00000456849.1_Missense_Mutation_p.P230Q|PAPSS2_ENST00000427144.2_Missense_Mutation_p.P234Q NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 230 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CTCTTTGTGCCGGAAAACAAA 0.378000 12 17 4.93089e-13 1.81953e-12 0.00244969 1 0 EPPK1 83481 broad.mit.edu 37 8 144940898 144940898 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:144940898T>C ENST00000525985.1 - 2 6595 c.6524A>G c.(6523-6525)cAa>cGa p.Q2175R P58107 EPIPL_HUMAN epiplakin 1 2175 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTAATTCCTTGGAACCACAG 0.517000 76 258 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13920608 13920608 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13920608C>A ENST00000265104.4 - 6 883 c.779G>T c.(778-780)tGg>tTg p.W260L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 260 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGTTTGATCCATACTTTCAT 0.398000 Kartagener syndrome 27 94 7.07758e-08 2.60527e-07 0.000720815 1 0 FLT1 2321 broad.mit.edu 37 13 29008336 29008336 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:29008336G>A ENST00000282397.4 - 5 786 c.535C>T c.(535-537)Cct>Tct p.P179S FLT1_ENST00000539099.1_Missense_Mutation_p.P179S|FLT1_ENST00000541932.1_Missense_Mutation_p.P179S NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 179 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 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) TTTCCATCAGGGATCAAAGTG 0.418000 11 18 0 0 0.00136819 0 0 C1orf173 127254 broad.mit.edu 37 1 75055375 75055375 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75055375C>T ENST00000326665.5 - 12 2334 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K C1orf173_ENST00000420661.2_Missense_Mutation_p.E509K NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 706 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTGCTTTCTTCCCAAAGCTTA 0.478000 37 127 0 0 0.00111076 0 0 ACVR2A 92 broad.mit.edu 37 2 148654035 148654035 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:148654035T>G ENST00000241416.7 + 2 857 c.221T>G c.(220-222)gTg>gGg p.V74G ACVR2A_ENST00000535787.1_5'UTR|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V74G NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 74 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) ATTGAAATAGTGAAACAAGGT 0.378000 14 61 0 0 0.000422831 0 0 CFAP54 144535 broad.mit.edu 37 12 97043759 97043759 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:97043759C>T ENST00000524981.3 + 2 134 c.134C>T c.(133-135)tCa>tTa p.S45L Q6ZTY8 CL063_HUMAN 19 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 GACTCTCAATCAGGTTCTAGT 0.338000 46 25 0 0 0.000781405 0 0 KAT6B 23522 broad.mit.edu 37 10 76784832 76784832 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:76784832A>C ENST00000287239.4 + 17 3978 c.3489A>C c.(3487-3489)tcA>tcC p.S1163S KAT6B_ENST00000372711.1_Silent_p.S980S|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Silent_p.S871S|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Silent_p.S871S|KAT6B_ENST00000372714.1_Silent_p.S871S NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1163 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTGACAACTCAGATGAAGAGA 0.493000 16 24 0 0 0.000566183 0 0 FAM71B 153745 broad.mit.edu 37 5 156592780 156592780 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:156592780C>T ENST00000302938.4 - 1 495 c.400G>A c.(400-402)Gat>Aat p.D134N NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 134 nucleus 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) TTCTCATGATCGTGGATGGAG 0.527000 116 347 0 0 0.000781405 0 0 CCKAR 886 broad.mit.edu 37 4 26491787 26491787 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:26491787G>A ENST00000295589.3 - 1 297 c.103C>T c.(103-105)Cct>Tct p.P35S NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 35 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) CCTTTGGAAGGACGGGGCTGA 0.438000 11 31 0 0 0.00136819 0 0 MAPK15 225689 broad.mit.edu 37 8 144801597 144801597 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:144801597C>T ENST00000338033.4 + 7 785 c.666C>T c.(664-666)tcC>tcT p.S222S MAPK15_ENST00000395108.2_Silent_p.S222S|MAPK15_ENST00000395107.4_Silent_p.S239S NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 222 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCGGCACGTCCACCCTCCACC 0.662000 14 39 0 0 0.00121646 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631897 156631897 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:156631897G>A ENST00000296518.7 + 6 789 c.580G>A c.(580-582)Gat>Aat p.D194N GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D194N|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D194N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D194N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D194N|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D194N Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 194 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity p.D194fs*2(2) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCTATGCCTGGATAAGGAGGA 0.453000 10 39 0 0 0.000442599 0 0 KCNH8 131096 broad.mit.edu 37 3 19575308 19575308 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:19575308C>T ENST00000328405.2 + 16 3307 c.3041C>T c.(3040-3042)cCa>cTa p.P1014L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 1014 Ser-rich. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TGCATCTCTCCACATTCAGAT 0.448000 38 142 0 0 0.0025221 0 0 RPLP0P6 220717 broad.mit.edu 37 2 38709444 38709444 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:38709444C>T ENST00000417039.1 - 0 696 TCCAGGGGCACCATTGAAATC 0.537000 10 36 0 0 0.000978159 0 0 MYOCD 93649 broad.mit.edu 37 17 12655993 12655993 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:12655993C>T ENST00000425538.1 + 10 1588 c.1388C>T c.(1387-1389)tCt>tTt p.S463F MYOCD_ENST00000395988.1_Missense_Mutation_p.S367F|MYOCD_ENST00000343344.4_Missense_Mutation_p.S463F NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 463 Ser-rich. 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 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) CCAGCCTCCTCTGACCTGTCA 0.622000 19 24 0 0 0.00121646 0 0 GRB14 2888 broad.mit.edu 37 2 165353883 165353883 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:165353883C>T ENST00000263915.3 - 10 1760 c.e10+1 GRB14_ENST00000543549.1_Splice_Site NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GCTACTTGTACCCTCCAAGCG 0.408000 46 38 0 0 0.000781405 0 0 CCDC13 152206 broad.mit.edu 37 3 42775094 42775094 + Missense_Mutation SNP C C A rs143411503 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:42775094C>A ENST00000310232.6 - 11 1462 c.1379G>T c.(1378-1380)cGg>cTg p.R460L CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 460 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCCTTTATTCCGAAGATACTG 0.587000 5 72 0.00198382 0.00723911 0.00198382 1 0 FBN2 2201 broad.mit.edu 37 5 127681079 127681079 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:127681079C>T ENST00000508053.1 - 30 4161 c.3187G>A c.(3187-3189)Gat>Aat p.D1063N FBN2_ENST00000508989.1_Missense_Mutation_p.D1030N|FBN2_ENST00000262464.4_Missense_Mutation_p.D1063N P35556 FBN2_HUMAN fibrillin 2 1063 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTAAGAACATCCCCTCGGTTA 0.597000 31 71 0 0 0.00283554 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76878020 76878020 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:76878020C>T ENST00000328299.3 + 3 689 c.541C>T c.(541-543)Ccg>Tcg p.P181S ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 181 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TGGTATCTATCCGAATGCCCA 0.423000 12 38 0 0 0.00244969 0 0 BPIFA3 128861 broad.mit.edu 37 20 31812911 31812911 + Missense_Mutation SNP G G A rs150349800 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31812911G>A ENST00000375454.3 + 4 604 c.394G>A c.(394-396)Gat>Aat p.D132N BPIFA3_ENST00000375452.3_Missense_Mutation_p.D96N|BPIFA3_ENST00000490499.1_3'UTR NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 132 extracellular region lipid binding CAGGTCCTTCGATAACAACAT 0.507000 23 126 0 0 0.00047179 0 0 NCOR2 9612 broad.mit.edu 37 12 124835140 124835140 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124835140G>A ENST00000356219.3 - 29 4013 c.3858C>T c.(3856-3858)tcC>tcT p.S1286S NCOR2_ENST00000404121.2_Silent_p.S840S|NCOR2_ENST00000397355.1_Silent_p.S1270S|NCOR2_ENST00000405201.1_Silent_p.S1279S|NCOR2_ENST00000404621.1_Silent_p.S1269S|NCOR2_ENST00000429285.2_Silent_p.S1269S NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1287 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CACCCTCATAGGACAAGACGT 0.642000 24 75 0 0 0.000878237 0 0 SETBP1 26040 broad.mit.edu 37 18 42531786 42531786 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:42531786G>A ENST00000282030.5 + 4 2777 c.2481G>A c.(2479-2481)tgG>tgA p.W827* NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 827 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GTGGAACCTGGAAGCTGTCTC 0.507000 Schinzel-Giedion syndrome 14 71 0 0 0.000566183 0 0 KCNG2 26251 broad.mit.edu 37 18 77624240 77624240 + Silent SNP C C T rs140218057 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:77624240C>T ENST00000316249.3 + 1 573 c.573C>T c.(571-573)gcC>gcT p.A191A NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 191 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCGTCACGGCCGTGGGCCTCT 0.771000 9 43 0 0 0.000978159 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139599 3139599 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:3139599C>T ENST00000252463.2 - 5 1758 c.1671G>A c.(1669-1671)ggG>ggA p.G557G ZSCAN10_ENST00000538082.2_Silent_p.G475G|ZSCAN10_ENST00000575108.1_Silent_p.G218G NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 557 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CGAAACTCTTCCCGCACTGGG 0.711000 6 9 0 0 0.00116845 0 0 ABCA3 21 broad.mit.edu 37 16 2373621 2373621 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2373621G>A ENST00000301732.5 - 7 1216 c.516C>T c.(514-516)ttC>ttT p.F172F ABCA3_ENST00000382381.3_Silent_p.F172F|ABCA3_ENST00000567910.1_Silent_p.F172F NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 172 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.F172F(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TCTCTTTCAGGAAAAAGGAGC 0.498000 95 249 0 0 0.000781405 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873632 48873632 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:48873632G>A ENST00000394754.1 + 8 2655 c.2541G>A c.(2539-2541)gaG>gaA p.E847E GTF2A1L_ENST00000403751.3_Silent_p.E143E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E847E|GTF2A1L_ENST00000430487.2_Silent_p.E109E|LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000405008.1_Silent_p.E847E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E800E|STON1-GTF2A1L_ENST00000402114.2_Silent_p.E847E|GTF2A1L_ENST00000468326.1_3'UTR NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 800 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.E847E(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGGTGACAGAGACTTCTGGAA 0.353000 35 50 0 0 0.00128727 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685875 125685875 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:125685875G>A ENST00000371126.1 - 1 959 c.717C>T c.(715-717)ctC>ctT p.L239L NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 239 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CATATACGGGGAGACCCACCT 0.667000 17 16 0 0 0.00074312 0 0 GCDH 2639 broad.mit.edu 37 19 13006835 13006835 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:13006835C>T ENST00000222214.5 + 7 746 c.535C>T c.(535-537)Ctc>Ttc p.L179F GCDH_ENST00000457854.1_Missense_Mutation_p.L179F|GCDH_ENST00000591470.1_Missense_Mutation_p.L179F|GCDH_ENST00000422947.2_Missense_Mutation_p.L135F Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 179 L -> R (in GA1). lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 CTGCTTCGGGCTCACAGAGCC 0.562000 31 94 0 0 0.001512 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163089 161163089 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161163089G>A ENST00000367996.4 - 7 2253 c.1825C>T c.(1825-1827)Cgc>Tgc p.R609C NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 609 Cys-rich. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTGTGTAGCGAGGAACCCAG 0.642000 16 72 0 0 0.000566183 0 0 GLI3 2737 broad.mit.edu 37 7 42005516 42005516 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:42005516G>A ENST00000395925.3 - 15 3239 c.3155C>T c.(3154-3156)cCc>cTc p.P1052L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1052 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCCGCCCTCGGGCCGCGTGTA 0.657000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 31 50 0 0 0.00178596 0 0 SCN1A 6323 broad.mit.edu 37 2 166892893 166892893 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166892893C>T ENST00000423058.2 - 16 3111 c.3094G>A c.(3094-3096)Gaa>Aaa p.E1032K AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1021K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1032K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1004K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1032 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGAATAAATTCATATATTTTT 0.323000 16 45 0 0 0.000566183 0 0 SNHG14 104472715 broad.mit.edu 37 15 25456896 25456896 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:25456896C>T ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 GTGAGCACATCCGGGTCCCGC 0.572000 19 29 0 0 0.00074312 0 0 PAPPA 5069 broad.mit.edu 37 9 118950233 118950233 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:118950233C>T ENST00000328252.3 + 2 1585 c.1216C>T c.(1216-1218)Cgc>Tgc p.R406C NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 406 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTCCTCCCTTCGCCGCCGCCT 0.612000 32 51 0 0 0.000953801 0 0 PTK6 5753 broad.mit.edu 37 20 62164928 62164928 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62164928C>T ENST00000217185.2 - 4 673 c.646G>A c.(646-648)Gtg>Atg p.V216M PTK6_ENST00000542869.1_Missense_Mutation_p.V115M NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 216 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) TTAATGGCCACCTGGACCCGG 0.657000 20 59 0 0 0.00121646 0 0 SP140 11262 broad.mit.edu 37 2 231150529 231150529 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231150529G>A ENST00000392045.3 + 17 1741 c.1627G>A c.(1627-1629)Gac>Aac p.D543N SP140_ENST00000343805.6_Missense_Mutation_p.D483N|SP140_ENST00000417495.3_Missense_Mutation_p.D429N|SP140_ENST00000350136.5_Missense_Mutation_p.D412N|SP140_ENST00000486687.2_Missense_Mutation_p.D467N|SP140_ENST00000420434.3_Missense_Mutation_p.D516N NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 543 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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) GAATCTGAAAGACCTTTCCAA 0.453000 52 48 0 0 0.000781405 0 0 SULT2A1 6822 broad.mit.edu 37 19 48386958 48386958 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:48386958C>T ENST00000222002.3 - 2 360 c.221G>A c.(220-222)cGa>cAa p.R74Q NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 74 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CCAGGGTGATCGCTCCCAGAT 0.517000 11 50 0 0 0.000978159 0 0 OSBP2 23762 broad.mit.edu 37 22 31286766 31286766 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31286766G>A ENST00000332585.6 + 8 1779 c.1675G>A c.(1675-1677)Gag>Aag p.E559K OSBP2_ENST00000437268.2_Missense_Mutation_p.E301K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E192K|OSBP2_ENST00000407373.1_Missense_Mutation_p.E386K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E558K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E393K|OSBP2_ENST00000535268.1_Missense_Mutation_p.E103K|OSBP2_ENST00000382310.3_Missense_Mutation_p.E510K NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 559 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGAGGACCTGGAGTACCACCA 0.627000 OREG0026467 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 70 0 0 0.000978159 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677213 37677213 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:37677213G>A ENST00000532828.2 - 5 1477 c.1226C>T c.(1225-1227)tCg>tTg p.S409L CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCATATATACGATTTTTCTCC 0.423000 40 52 0 0 0.00148497 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095457 107095457 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:107095457G>A ENST00000390630.2 - 0 147 GACCCACAGTGAGCCCTGGGA 0.617000 26 17 0 0 0.000720815 0 0 FBN3 84467 broad.mit.edu 37 19 8188870 8188870 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8188870G>A ENST00000600128.1 - 23 3168 c.2754C>T c.(2752-2754)ttC>ttT p.F918F FBN3_ENST00000601739.1_Silent_p.F918F|FBN3_ENST00000270509.2_Silent_p.F918F Q75N90 FBN3_HUMAN fibrillin 3 918 TB 5. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCCATCGCAGGAAACATGGTT 0.637000 7 23 0 0 0.00198382 0 0 EOGT 285203 broad.mit.edu 37 3 69028912 69028912 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:69028912C>T ENST00000383701.3 - 16 1983 c.1241G>A c.(1240-1242)aGg>aAg p.R414K EOGT_ENST00000540764.1_Missense_Mutation_p.R313K|EOGT_ENST00000295571.5_Missense_Mutation_p.R330K|EOGT_ENST00000540955.1_Missense_Mutation_p.R138K NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase GTGTGTGATCCTTAGTTGATC 0.403000 25 16 0 0 0.000586117 0 0 OR51I1 390063 broad.mit.edu 37 11 5462682 5462682 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5462682C>T ENST00000380211.1 - 1 62 c.63G>A c.(61-63)ggG>ggA p.G21G AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTTTGTATCCCAGGAATGC 0.522000 8 8 0 0 0.00136819 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64717044 64717044 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:64717044G>A ENST00000338957.4 + 2 708 c.641G>A c.(640-642)gGa>gAa p.G214E ZC3H12B_ENST00000423889.3_Missense_Mutation_p.G203E NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 203 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCTGCAGAGGAATACAACTT 0.408000 14 2 0 0 0.000308642 0 0 KCNH7 90134 broad.mit.edu 37 2 163241264 163241264 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163241264C>T ENST00000332142.5 - 13 2995 c.2896G>A c.(2896-2898)Gat>Aat p.D966N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 966 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTTCAAAATCGAGCCCAGAT 0.438000 29 34 0 0 0.00106085 0 0 CDC34 997 broad.mit.edu 37 19 535852 535852 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:535852C>T ENST00000215574.4 + 2 411 c.193C>T c.(193-195)Ccc>Tcc p.P65S NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 65 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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) CCTCAAGTTCCCCATCGACTA 0.637000 77 259 0 0 0.000781405 0 0 INSRR 3645 broad.mit.edu 37 1 156821858 156821858 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156821858G>A ENST00000368195.3 - 3 1159 c.763C>T c.(763-765)Cag>Tag p.Q255* NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 255 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGGCACCCTGGAAGTAGAGG 0.667000 6 37 0 0 0.00116845 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224845 20224845 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:20224845C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA TAGACCAGCCCCAGCACGATG 0.652000 50 85 0 0 0.000781405 0 0 COL5A1 1289 broad.mit.edu 37 9 137622301 137622301 + Missense_Mutation SNP G G A rs148288567 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:137622301G>A ENST00000371817.3 + 7 1558 c.1144G>A c.(1144-1146)Gac>Aac p.D382N NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 382 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGCACCGCCGACACCTCCAA 0.622000 12 65 0 0 0.00136819 0 0 GUCY2C 2984 broad.mit.edu 37 12 14822671 14822671 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:14822671C>T ENST00000261170.3 - 10 1403 c.1267G>A c.(1267-1269)Gat>Aat p.D423N RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 423 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CCTGTAATATCATTAGGAAGT 0.388000 19 48 0 0 0.00188189 0 0 UBLCP1 134510 broad.mit.edu 37 5 158699032 158699032 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:158699032C>T ENST00000296786.6 + 6 776 c.448_splice c.e6-1 p.D150_splice NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 150 FCP1 homology. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTTTTAGACCACAGGTCTT 0.303000 15 38 0 0 0.000308642 0 0 PLXNB2 23654 broad.mit.edu 37 22 50719522 50719522 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:50719522G>A ENST00000449103.1 - 23 3899 c.3759C>T c.(3757-3759)ttC>ttT p.F1253F PLXNB2_ENST00000359337.4_Silent_p.F1253F O15031 PLXB2_HUMAN plexin B2 1253 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-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) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCCTACCTGTGAATTCCTTCT 0.662000 5 25 0 0 0.000602214 0 0 SP140L 93349 broad.mit.edu 37 2 231222606 231222606 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231222606C>T ENST00000243810.6 + 3 194 c.194C>T c.(193-195)tCa>tTa p.S65L SP140L_ENST00000396563.4_Missense_Mutation_p.S65L|SP140L_ENST00000444636.1_Missense_Mutation_p.S65L|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.S65L|SP140_ENST00000486687.2_3'UTR Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 65 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CTGGAGATATCAAATGCAATA 0.393000 127 156 0 0 0.000781405 0 0 COL7A1 1294 broad.mit.edu 37 3 48616938 48616938 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:48616938C>T ENST00000328333.8 - 59 5353 c.5246G>A c.(5245-5247)gGg>gAg p.G1749E COL7A1_ENST00000454817.1_Missense_Mutation_p.G1749E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1749 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity 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) TCCCCGAAACCCTTCAATGCC 0.607000 13 38 0 0 0.00185496 0 0 TSSC4 10078 broad.mit.edu 37 11 2424683 2424683 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:2424683C>T ENST00000333256.6 + 3 1263 c.820C>T c.(820-822)Cac>Tac p.H274Y TSSC4_ENST00000451491.2_Missense_Mutation_p.H274Y|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380996.5_Missense_Mutation_p.H210Y Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 274 H -> P (in dbSNP:rs2234283). endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGGGGCAGCCACCATGGAGG 0.687000 61 66 0 0 0.000781405 0 0 SNTG2 54221 broad.mit.edu 37 2 1204876 1204876 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:1204876G>A ENST00000308624.5 + 9 808 c.679G>A c.(679-681)Gct>Act p.A227T SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.A100T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 227 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TCTGTCCATGGCTCGCATCTC 0.527000 32 143 0 0 0.00283554 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332404 100332404 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:100332404G>A ENST00000341853.1 - 0 1787 NR_003260.1 GCTCCAGAGTGGCCTTATGGA 0.542000 36 59 0 0 0.00111076 0 0 DHCR7 1717 broad.mit.edu 37 11 71152291 71152291 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:71152291G>A ENST00000355527.3 - 6 884 c.608C>T c.(607-609)cCc>cTc p.P203L DHCR7_ENST00000407721.2_Missense_Mutation_p.P203L NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 203 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GGCGCTGGTGGGGAAGAAGTA 0.577000 Smith-Lemli-Opitz syndrome 12 29 0 0 0.00136819 0 0 MYH4 4622 broad.mit.edu 37 17 10355617 10355617 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10355617C>T ENST00000255381.2 - 27 3489 c.3379G>A c.(3379-3381)Gag>Aag p.E1127K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1127 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CGCTCTGCCTCGATTTCCTCC 0.552000 30 27 0 0 0.00209593 0 0 TINAG 27283 broad.mit.edu 37 6 54186144 54186144 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:54186144C>T ENST00000259782.4 + 3 565 c.469C>T c.(469-471)Cgt>Tgt p.R157C TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.R153C|TINAG_ENST00000370864.3_Missense_Mutation_p.R139C NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 157 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ATGCCTTGTTCGTTCAGAATT 0.378000 15 21 0 0 0.000958276 0 0 BPTF 2186 broad.mit.edu 37 17 65907642 65907642 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:65907642C>T ENST00000321892.4 + 13 4081 c.4020C>T c.(4018-4020)ttC>ttT p.F1340F BPTF_ENST00000335221.5_Silent_p.F1340F|BPTF_ENST00000424123.3_Silent_p.F1201F|BPTF_ENST00000306378.6_Silent_p.F1214F Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1340 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ATGATTTTTTCATCGATGACT 0.373000 19 43 0 0 0.000958276 0 0 MAPK1 5594 broad.mit.edu 37 22 22153384 22153384 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:22153384G>A ENST00000215832.6 - 4 714 c.526C>T c.(526-528)Cca>Tca p.P176S MAPK1_ENST00000398822.3_Missense_Mutation_p.P176S|MAPK1_ENST00000544786.1_Missense_Mutation_p.P176S NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 176 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor 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|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) TCATGGTCTGGATCTGCAACA 0.413000 13 36 0 0 0.00185496 0 0 AFF3 3899 broad.mit.edu 37 2 100623240 100623240 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:100623240G>A ENST00000317233.4 - 6 962 c.727C>T c.(727-729)Cag>Tag p.Q243* AFF3_ENST00000356421.2_Nonsense_Mutation_p.Q268*|AFF3_ENST00000409579.1_Nonsense_Mutation_p.Q268*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.Q243* NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 243 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCAGGGGCCTGATCTTGGCCG 0.577000 9 45 0 0 0.000442599 0 0 NUBPL 80224 broad.mit.edu 37 14 32142591 32142591 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:32142591G>A ENST00000281081.7 + 5 458 c.413G>A c.(412-414)gGt>gAt p.G138D NUBPL_ENST00000536705.1_Missense_Mutation_p.G42D NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 138 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) TTGAATTATGGTATTGCTTGG 0.274000 5 21 0 0 0.000602214 0 0 SELRC1 65260 broad.mit.edu 37 1 53153603 53153603 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53153603G>A ENST00000371538.3 - 3 524 c.485C>T c.(484-486)cCa>cTa p.P162L SELRC1_ENST00000486918.1_5'UTR NM_023077.2 NP_075565.2 Q96BR5 SELR1_HUMAN Sel1 repeat containing 1 162 binding breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 GGGAAAGCCTGGGGCACCCTG 0.542000 54 41 0 0 0.000781405 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474550 145474550 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145474550G>A ENST00000323397.4 + 4 2515 c.1222G>A c.(1222-1224)Ggc>Agc p.G408S NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 408 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCGGAGGGGCTCGGGGAC 0.682000 4 9 0 0 0.000602214 0 0 DENND1A 57706 broad.mit.edu 37 9 126214555 126214555 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:126214555G>A ENST00000373624.2 - 17 1500 c.1299_splice c.e17+1 p.F433_splice DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Splice_Site_p.F401_splice|DENND1A_ENST00000542603.1_Splice_Site_p.F175_splice|DENND1A_ENST00000394219.3_Splice_Site_p.F401_splice|DENND1A_ENST00000394215.2_Splice_Site_p.F403_splice|DENND1A_ENST00000373620.3_Splice_Site_p.F433_splice NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 433 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CAGTACTTACGAACTTGTAGA 0.378000 21 87 0 0 0.00047179 0 0 MRPS9 64965 broad.mit.edu 37 2 105708940 105708940 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:105708940C>T ENST00000258455.3 + 8 843 c.733C>T c.(733-735)Cga>Tga p.R245* NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 245 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GCAGAGGTTTCGAAGAAGTGT 0.393000 12 63 0 0 0.00136819 0 0 SYNE1 23345 broad.mit.edu 37 6 152655162 152655162 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:152655162C>T ENST00000367255.5 - 77 13376 c.12775G>A c.(12775-12777)Gaa>Aaa p.E4259K SYNE1_ENST00000448038.1_Missense_Mutation_p.E4188K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4259K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4124K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4188K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4259 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.E4259K(2)|p.E4188K(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) TTATCCCATTCTGTAGTAAAT 0.373000 HNSCC(10;0.0054) 49 67 0 0 0.000781405 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877605 24877605 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24877605C>T ENST00000382554.3 + 3 1047 c.729C>T c.(727-729)ccC>ccT p.P243P NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 243 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GTCCTGGACCCTTTGTGGACA 0.587000 34 24 0 0 0.000953801 0 0 DLL4 54567 broad.mit.edu 37 15 41228588 41228588 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:41228588C>T ENST00000249749.5 + 9 1679 c.1403C>T c.(1402-1404)gCc>gTc p.A468V NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 468 EGF-like 7. blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) ACCTGCCCTGCCGGCTTCTCT 0.622000 15 1 0 0 0.000566183 0 0 LAMC3 10319 broad.mit.edu 37 9 133920952 133920952 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:133920952C>T ENST00000361069.4 + 8 1557 c.1424C>T c.(1423-1425)gCt>gTt p.A475V LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 475 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CACAATCCAGCTGGCTGCAGC 0.607000 26 31 0 0 0.000878237 0 0 ZFP57 346171 broad.mit.edu 37 6 29640907 29640907 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29640907G>A ENST00000376883.1 - 6 1332 c.921C>T c.(919-921)gcC>gcT p.A307A ZFP57_ENST00000376881.3_Silent_p.A307A|ZFP57_ENST00000488757.1_Silent_p.A327A Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 243 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CCTGGGACCTGGCCACTGGTG 0.557000 84 37 0 0 0.000781405 0 0 MIR527 574497 broad.mit.edu 37 19 54257317 54257317 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54257317G>A ENST00000385244.1 + 0 46 NR_030219.1 TTGTCTAAAAGAAAAGAAAGT 0.428000 82 101 0 0 0.000781405 0 0 ABCC4 10257 broad.mit.edu 37 13 95673920 95673920 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:95673920T>C ENST00000376887.4 - 31 4001 c.3887A>G c.(3886-3888)aAt>aGt p.N1296S ABCC4_ENST00000412704.1_Missense_Mutation_p.N1249S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1296 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) ATGTGGATAATTTCTTTTGAA 0.368000 12 39 0 0 0.000308642 0 0 APOF 319 broad.mit.edu 37 12 56755102 56755102 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56755102G>A ENST00000398189.3 - 2 965 c.888C>T c.(886-888)ttC>ttT p.F296F APOF_ENST00000541105.1_Silent_p.F278F NM_001638.2 NP_001629.1 Q13790 APOF_HUMAN apolipoprotein F 296 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding breast(1)|lung(3)|prostate(1)|stomach(1) 6 CTTCTGATATGAAAGAAGCCA 0.473000 16 51 0 0 0.00074312 0 0 DNAH17 8632 broad.mit.edu 37 17 76526586 76526586 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76526586G>A ENST00000389840.5 - 21 3247 c.3123C>T c.(3121-3123)tcC>tcT p.S1041S DNAH17_ENST00000585328.1_Silent_p.S1038S dynein, axonemal, heavy chain 17 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) GCTTCTCGTAGGAGTCGATCT 0.632000 21 111 0 0 0.00047179 0 0 BBC3 27113 broad.mit.edu 37 19 47725012 47725012 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:47725012G>A ENST00000449228.1 - 4 895 c.732C>T c.(730-732)ccC>ccT p.P244P BBC3_ENST00000300880.7_Silent_p.P84P|BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000439096.2_3'UTR NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) GAGGTGGGAGGGGCCTGCCCC 0.706000 9 10 0 0 0.000673444 0 0 IL20 50604 broad.mit.edu 37 1 207039325 207039325 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207039325G>A ENST00000367098.1 + 2 491 c.128G>A c.(127-129)cGa>cAa p.R43Q IL20_ENST00000367096.3_Missense_Mutation_p.R43Q|IL20_ENST00000391930.2_Missense_Mutation_p.R43Q Q9NYY1 IL20_HUMAN interleukin 20 43 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) CAGGAAATACGAAATGGATTT 0.473000 29 69 0 0 0.001512 0 0 MIR1283-2 100302205 broad.mit.edu 37 19 54261508 54261508 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54261508G>A ENST00000408621.1 + 0 23 NR_031696.1 GTCTACAAAGGAAAGCGCTTT 0.408000 31 121 0 0 0.00058488 0 0 SMPD4 55627 broad.mit.edu 37 2 130912694 130912694 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:130912694G>A ENST00000409031.1 - 15 2693 c.1545C>T c.(1543-1545)ccC>ccT p.P515P SMPD4_ENST00000351288.6_Silent_p.P486P|SMPD4_ENST00000431183.2_Silent_p.P413P|SMPD4_ENST00000452225.2_Silent_p.P256P|SMPD4_ENST00000453750.1_Silent_p.P264P|SMPD4_ENST00000426662.2_Silent_p.P151P|SMPD4_ENST00000339679.7_Silent_p.P373P|SMPD4_ENST00000443958.2_Silent_p.P179P NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 476 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CAGCCAGGTTGGGCTGGGCAA 0.612000 8 52 0 0 0.000442599 0 0 ARAP2 116984 broad.mit.edu 37 4 36212334 36212334 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:36212334C>T ENST00000303965.4 - 6 1654 c.1165G>A c.(1165-1167)Gag>Aag p.E389K NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 389 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ACCTTGTCCTCGCTTATTTTC 0.338000 20 52 0 0 0.00121646 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353292 133353292 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:133353292G>A ENST00000204726.3 - 21 4464 c.3906C>T c.(3904-3906)tcC>tcT p.S1302S GOLGA3_ENST00000456883.2_Silent_p.S1302S|GOLGA3_ENST00000450791.2_Silent_p.S1302S NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1302 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity 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) GCTGCTTCAAGGACTGGATTT 0.502000 24 67 0 0 0.00229938 0 0 NDST4 64579 broad.mit.edu 37 4 115767138 115767138 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:115767138G>A ENST00000264363.2 - 10 2634 c.1956C>T c.(1954-1956)ttC>ttT p.F652F NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 652 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity 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) ATGGTGTAGGGAAAAAGTCCA 0.358000 27 16 0 0 0.00106085 0 0 XIRP1 165904 broad.mit.edu 37 3 39227007 39227007 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:39227007C>T ENST00000340369.3 - 2 4158 c.3930G>A c.(3928-3930)aaG>aaA p.K1310K XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1310 Pro-rich. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTTTTGGGGTCTTTGTCTGTG 0.617000 28 83 0 0 0.00106085 0 0 TM4SF19 116211 broad.mit.edu 37 3 196054427 196054427 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:196054427C>T ENST00000446879.1 - 2 160 c.35G>A c.(34-36)cGg>cAg p.R12Q TM4SF19_ENST00000273695.3_Missense_Mutation_p.R12Q|TM4SF19_ENST00000454715.1_Missense_Mutation_p.R12Q Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 12 integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) GGAGCAAGTCCGTGAGCTTGC 0.607000 20 54 0 0 0.00152264 0 0 TAF1L 138474 broad.mit.edu 37 9 32631485 32631485 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:32631485G>A ENST00000242310.4 - 1 4182 c.4093C>T c.(4093-4095)Cct>Tct p.P1365S NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1365 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGCTGTTTAGGAAACTTGAGA 0.438000 88 64 0 0 0.000781405 0 0 PAXIP1 22976 broad.mit.edu 37 7 154738110 154738110 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:154738110C>T ENST00000404141.1 - 20 3313 c.3159G>A c.(3157-3159)ctG>ctA p.L1053L PAXIP1_ENST00000397192.1_Silent_p.L1053L|PAXIP1_ENST00000473219.1_5'UTR Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 1053 BRCT 6.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GCACTCCAGTCAGAACGAACT 0.428000 32 159 0 0 0.00148497 0 0 DST 667 broad.mit.edu 37 6 56483105 56483105 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:56483105G>A ENST00000370765.6 - 23 5834 c.5727C>T c.(5725-5727)tcC>tcT p.S1909S DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1300 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCAACAGAGGGGATCTGGGTG 0.502000 16 18 0 0 0.000308642 0 0 NUDT14 256281 broad.mit.edu 37 14 105639473 105639473 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105639473G>A ENST00000392568.2 - 5 647 c.554C>T c.(553-555)cCc>cTc p.P185L NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 185 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GCCTTCCAGGGGCAGGTGCAC 0.627000 HNSCC(42;0.11) 6 39 0 0 0.00198382 0 0 SP140L 93349 broad.mit.edu 37 2 231222634 231222634 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231222634C>T ENST00000243810.6 + 3 222 c.222C>T c.(220-222)ttC>ttT p.F74F SP140L_ENST00000396563.4_Silent_p.F74F|SP140L_ENST00000444636.1_Silent_p.F74F|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000415673.2_Silent_p.F74F|SP140_ENST00000486687.2_3'UTR Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 74 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CATTTCCATTCCTTGAGGGCC 0.373000 56 227 0 0 0.000781405 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766203 27766203 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:27766203G>A ENST00000451261.2 + 5 1590 c.1191G>A c.(1189-1191)agG>agA p.R397R NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 ATGACCAGAGGAAAATTGATA 0.393000 34 0 0 0 0.000692331 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187742 42187742 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42187742C>T ENST00000006724.3 - 3 881 c.680G>A c.(679-681)aGt>aAt p.S227N CEACAM7_ENST00000401731.1_Missense_Mutation_p.S227N|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 227 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GACTGGGTCACTGCGGCTGGC 0.542000 40 131 0 0 0.0025221 0 0 GJA8 2703 broad.mit.edu 37 1 147380328 147380328 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:147380328C>T ENST00000240986.4 + 2 299 c.246C>T c.(244-246)atC>atT p.I82I GJA8_ENST00000369235.1_Silent_p.I82I NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 82 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGCTGCAGATCATCTTCGTCT 0.627000 16 81 0 0 0.000958276 0 0 TVP23A 780776 broad.mit.edu 37 16 10867934 10867934 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:10867934C>T ENST00000299866.8 - 4 577 c.286G>A c.(286-288)Gaa>Aaa p.E96K TVP23A_ENST00000572980.1_5'UTR NM_001079512.2 NP_001072980.1 trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) TTCCCATCTTCATCTATCTGG 0.498000 13 9 0 0 0.00244969 0 0 DPP10 57628 broad.mit.edu 37 2 116485423 116485423 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:116485423A>C ENST00000410059.1 + 8 1088 c.608A>C c.(607-609)cAa>cCa p.Q203P DPP10_ENST00000393147.2_Missense_Mutation_p.Q207P|DPP10_ENST00000409163.1_Missense_Mutation_p.Q153P|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.Q196P NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 203 proteolysis integral to membrane|membrane fraction serine-type peptidase activity 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 ATCTACTATCAACCTGATATA 0.308000 12 15 0 0 0.000978159 0 0 OTOGL 283310 broad.mit.edu 37 12 80750274 80750274 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:80750274T>C ENST00000458043.2 + 47 5864 c.5858T>C c.(5857-5859)cTt>cCt p.L1953P OTOGL_ENST00000546620.1_5'UTR|OTOGL_ENST00000547103.1_Missense_Mutation_p.L1941P NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CACAGTCCTCTTTCTTGCTGT 0.333000 20 53 0 0 0.00121646 0 0 CNTN6 27255 broad.mit.edu 37 3 1424755 1424755 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:1424755G>A ENST00000446702.2 + 18 2923 c.2296G>A c.(2296-2298)Gaa>Aaa p.E766K CNTN6_ENST00000350110.2_Missense_Mutation_p.E766K|CNTN6_ENST00000539053.1_Missense_Mutation_p.E694K Q9UQ52 CNTN6_HUMAN contactin 6 766 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTACAGAAATGAAAGCATCAT 0.458000 9 40 0 0 0.000673444 0 0 CERS6 253782 broad.mit.edu 37 2 169313054 169313054 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:169313054C>T ENST00000305747.6 + 1 683 c.96C>T c.(94-96)ttC>ttT p.F32F CERS6_ENST00000392687.4_Silent_p.F32F NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 32 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGGCCACCTTCCCGCAGGCTG 0.582000 9 54 0 0 0.000673444 0 0 CNOT3 4849 broad.mit.edu 37 19 54649670 54649670 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54649670C>T ENST00000406403.1 + 8 2331 c.728C>T c.(727-729)cCt>cTt p.P243L CNOT3_ENST00000221232.5_Missense_Mutation_p.P243L|CNOT3_ENST00000358389.3_Missense_Mutation_p.P62L O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 243 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCACCTCCCCTCCCAGCCAC 0.637000 14 53 0 0 0.000566183 0 0 COL13A1 1305 broad.mit.edu 37 10 71690233 71690233 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:71690233G>A ENST00000356340.3 + 28 2111 c.1575G>A c.(1573-1575)gtG>gtA p.V525V COL13A1_ENST00000398968.3_Silent_p.V506V|COL13A1_ENST00000398978.3_Silent_p.V525V|COL13A1_ENST00000398974.3_Silent_p.V513V|COL13A1_ENST00000398966.3_Silent_p.V503V|COL13A1_ENST00000520133.1_Silent_p.V474V|COL13A1_ENST00000520267.1_Silent_p.V468V|COL13A1_ENST00000398972.3_Silent_p.V525V|COL13A1_ENST00000398973.3_Silent_p.V525V|COL13A1_ENST00000357811.3_Silent_p.V503V|COL13A1_ENST00000398969.3_Silent_p.V468V|COL13A1_ENST00000354547.3_Silent_p.V503V|COL13A1_ENST00000398964.3_Silent_p.V496V|COL13A1_ENST00000522165.1_Silent_p.V506V|COL13A1_ENST00000398971.3_Silent_p.V525V|COL13A1_ENST00000517713.1_Silent_p.V503V Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 525 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CTCCAGGAGTGAAGGGAGAAA 0.602000 13 6 0 0 0.00136819 0 0 NEK5 341676 broad.mit.edu 37 13 52676396 52676396 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:52676396C>T ENST00000355568.4 - 10 781 c.642G>A c.(640-642)ctG>ctA p.L214L NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 214 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GACAAATCTTCAGAACCAGCT 0.403000 47 69 0 0 0.000781405 0 0 OR8B8 26493 broad.mit.edu 37 11 124310965 124310965 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124310965G>A ENST00000328064.2 - 1 89 c.17C>T c.(16-18)tCc>tTc p.S6F NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CACGAAGGAGGAATTCTCAGC 0.502000 15 12 0 0 0.000308642 0 0 FLAD1 80308 broad.mit.edu 37 1 154960577 154960577 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:154960577C>T ENST00000368431.3 + 3 892 c.72C>T c.(70-72)ccC>ccT p.P24P FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000405236.2_Silent_p.P24P|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000292180.3_Intron NM_001184892.1 NP_001171821.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 0 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCTTCAACCCCCAGGGACACA 0.552000 111 78 0 0 0.000781405 0 0 DCLK2 166614 broad.mit.edu 37 4 151119159 151119159 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:151119159C>T ENST00000296550.7 + 4 1619 c.865C>T c.(865-867)Cgt>Tgt p.R289C DCLK2_ENST00000506325.1_Missense_Mutation_p.R289C|DCLK2_ENST00000302176.8_Missense_Mutation_p.R289C|DCLK2_ENST00000507694.1_3'UTR NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 289 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCTAGAATGTCGTGTCCTGAA 0.408000 13 39 0 0 0.00185496 0 0 MAGI1 9223 broad.mit.edu 37 3 65350400 65350400 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:65350400C>T ENST00000330909.8 - 21 3374 c.3374_splice c.e21-1 p.R1125_splice MAGI1_ENST00000483466.1_Splice_Site_p.R1126_splice|MAGI1_ENST00000402939.2_Splice_Site_p.R1097_splice|MAGI1_ENST00000497477.2_Splice_Site_p.R1030_splice NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1126 PDZ 6. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGTGGTATTCCTGCCAAAGT 0.393000 29 47 0 0 0.00058488 0 0 CDK12 51755 broad.mit.edu 37 17 37681082 37681082 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:37681082C>A ENST00000447079.4 + 12 3284 c.3251C>A c.(3250-3252)cCa>cAa p.P1084Q CDK12_ENST00000430627.2_Missense_Mutation_p.P1084Q NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1084 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AACAGCAGCCCAGCACCACCT 0.527000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 6 121 0.00116845 0.00427116 0.00116845 1 0 GRIK5 2901 broad.mit.edu 37 19 42507715 42507715 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42507715C>T ENST00000262895.3 - 17 2383 c.2384G>A c.(2383-2385)cGa>cAa p.R795Q GRIK5_ENST00000593562.1_Missense_Mutation_p.R795Q|GRIK5_ENST00000301218.4_Missense_Mutation_p.R795Q NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 795 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) ACCTTTAGCTCGATGGTCCTC 0.632000 12 42 0 0 0.00244969 0 0 THEMIS 387357 broad.mit.edu 37 6 128134744 128134744 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:128134744C>T ENST00000368250.1 - 5 1303 c.805G>A c.(805-807)Gag>Aag p.E269K THEMIS_ENST00000537166.1_Missense_Mutation_p.E313K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E348K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E348K Q8N1K5 THMS1_HUMAN thymocyte selection associated 348 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GTTGGGAACTCCCTCGGTCGC 0.478000 17 22 0 0 0.00074312 0 0 IL31RA 133396 broad.mit.edu 37 5 55195914 55195914 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:55195914G>A ENST00000396834.1 + 10 1462 c.966G>A c.(964-966)ggG>ggA p.G322G IL31RA_ENST00000396836.2_Silent_p.G341G|IL31RA_ENST00000297015.3_Silent_p.G199G|IL31RA_ENST00000447346.2_Silent_p.G341G|IL31RA_ENST00000490985.1_Silent_p.G199G|IL31RA_ENST00000354961.4_Silent_p.G322G|IL31RA_ENST00000359040.5_Silent_p.G341G NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 309 Fibronectin type-III 4. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) ATTCTCTTGGGAAGTCTCCAG 0.453000 50 118 0 0 0.000781405 0 0 SCAND3 114821 broad.mit.edu 37 6 28542620 28542620 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28542620C>T ENST00000452236.2 - 3 2479 c.1862G>A c.(1861-1863)gGa>gAa p.G621E NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 621 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATGGATATTTCCATCACATGA 0.423000 13 20 0 0 0.00244969 0 0 PTPN23 25930 broad.mit.edu 37 3 47453658 47453658 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:47453658C>G ENST00000265562.4 + 22 4225 c.4148C>G c.(4147-4149)cCg>cGg p.P1383R PTPN23_ENST00000431726.1_Missense_Mutation_p.P1257R NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1383 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CATCAGCGGCCGCTGCACACG 0.627000 20 59 0 0 0.00152264 0 0 PLCB2 5330 broad.mit.edu 37 15 40589053 40589053 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:40589053G>A ENST00000260402.3 - 14 1629 c.1380C>T c.(1378-1380)atC>atT p.I460I PLCB2_ENST00000557821.1_Silent_p.I460I|PLCB2_ENST00000456256.2_Silent_p.I460I NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 460 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCTTGTTCTTGATGAGGATCT 0.582000 30 23 0 0 0.0024448 0 0 C15orf39 56905 broad.mit.edu 37 15 75498755 75498755 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:75498755C>T ENST00000360639.2 + 2 686 c.366C>T c.(364-366)taC>taT p.Y122Y C15orf39_ENST00000394987.4_Silent_p.Y122Y|C15orf39_ENST00000567617.1_Silent_p.Y122Y Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 122 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CTCACTCCTACCCAGGCCCAC 0.612000 5 10 0 0 0.000157383 0 0 MROH2B 133558 broad.mit.edu 37 5 41055862 41055862 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41055862A>G ENST00000399564.4 - 10 1465 c.1015T>C c.(1015-1017)Ttg>Ctg p.L339L MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTGACAGCCAATCTTAACAAA 0.418000 20 58 0 0 0.00278032 0 0 PAK7 57144 broad.mit.edu 37 20 9561263 9561263 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9561263C>T ENST00000378429.3 - 5 1065 c.519G>A c.(517-519)atG>atA p.M173I PAK7_ENST00000378423.1_Missense_Mutation_p.M173I|PAK7_ENST00000353224.5_Missense_Mutation_p.M173I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 173 Linker. ATP binding|protein binding|protein serine/threonine kinase activity 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) GCTTCATTTTCATTACGTGCC 0.463000 43 83 0 0 0.000680045 0 0 DNAH5 1767 broad.mit.edu 37 5 13759068 13759068 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13759068G>A ENST00000265104.4 - 61 10410 c.10306C>T c.(10306-10308)Cgc>Tgc p.R3436C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3436 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGGAGATGGCGATTCTCTTGC 0.547000 Kartagener syndrome 36 92 0 0 0.00170553 0 0 MLLT4 4301 broad.mit.edu 37 6 168352394 168352394 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:168352394C>T ENST00000366806.2 + 30 4481 c.4339C>T c.(4339-4341)Cag>Tag p.Q1447* MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1454*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1447*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1446*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1430*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1447*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1447* P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1447 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GATGCGCACTCAGTCCTTAAA 0.577000 T MLL AL 37 40 0 0 0.00222228 0 0 AGO3 192669 broad.mit.edu 37 1 36521258 36521258 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:36521258C>T ENST00000373191.4 + 19 2844 c.2495C>T c.(2494-2496)tCa>tTa p.S832L AGO3_ENST00000246314.6_Missense_Mutation_p.S598L NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 AGTCACGTTTCAGGACAAAGC 0.393000 95 68 0 0 0.000781405 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707649 96707649 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96707649G>A ENST00000260682.6 + 4 607 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 199 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TAACTTAATGGAAAAGTTGAA 0.383000 11 11 0 0 0.000673444 0 0 SOX4 6659 broad.mit.edu 37 6 21596018 21596018 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:21596018C>T ENST00000244745.1 + 1 2047 c.1253C>T c.(1252-1254)tCc>tTc p.S418F SOX4_ENST00000543472.1_Missense_Mutation_p.S418F NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 418 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GAGAGCATGTCCCTGGGCAGC 0.617000 13 40 0 0 0.000958276 0 0 POM121L12 285877 broad.mit.edu 37 7 53103888 53103888 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:53103888G>A ENST00000408890.4 + 1 540 c.524G>A c.(523-525)cGg>cAg p.R175Q NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 175 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCTGCACCCGGGAGACTCTG 0.721000 9 39 0 0 0.000274275 0 0 ADAT1 23536 broad.mit.edu 37 16 75646739 75646739 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:75646739G>A ENST00000307921.3 - 7 590 c.445C>T c.(445-447)Ccg>Tcg p.P149S NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 149 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 TCAAGCATCGGAATGATGGAG 0.488000 21 35 0 0 0.00121646 0 0 LAMA5 3911 broad.mit.edu 37 20 60892524 60892524 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:60892524C>T ENST00000252999.3 - 55 7454 c.7388G>A c.(7387-7389)gGg>gAg p.G2463E NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2463 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTCCGAGCCCCATCCAGGCT 0.682000 6 30 0 0 0.000157383 0 0 SETBP1 26040 broad.mit.edu 37 18 42532125 42532125 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:42532125G>A ENST00000282030.5 + 4 3116 c.2820G>A c.(2818-2820)agG>agA p.R940R NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 940 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGCACAAGAGGAAACGGAAAA 0.527000 Schinzel-Giedion syndrome 22 62 0 0 0.00229938 0 0 MYH7 4625 broad.mit.edu 37 14 23887546 23887546 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23887546C>T ENST00000355349.3 - 30 4204 c.4042G>A c.(4042-4044)Gag>Aag p.E1348K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1348 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 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) GTCTCCTCCTCGTACTGCTCC 0.667000 17 38 0 0 0.000422831 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20126823 20126823 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:20126823G>A ENST00000334554.7 + 2 352 c.211G>A c.(211-213)Ggt>Agt p.G71S ZDHHC8_ENST00000320602.7_Missense_Mutation_p.G71S|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.G71S NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 71 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding p.G71C(1) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CATGGACCCTGGTGTTTTCCC 0.557000 49 149 0 0 0.000781405 0 0 CSMD2 114784 broad.mit.edu 37 1 34090665 34090665 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34090665G>A ENST00000373381.4 - 34 5662 c.5486C>T c.(5485-5487)gCg>gTg p.A1829V CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A702V NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1789 CUB 11. integral to membrane|plasma membrane protein binding 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) ACACGTGGGCGCTGAGACATT 0.642000 41 55 0 0 0.000680045 0 0 MDC1 9656 broad.mit.edu 37 6 30673675 30673675 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:30673675G>A ENST00000376406.3 - 10 3932 c.3285C>T c.(3283-3285)tcC>tcT p.S1095S MDC1_ENST00000376405.2_Silent_p.S831S|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1095 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CCAGCTCTGAGGACAAGGGAG 0.552000 Other conserved DNA damage response genes 73 157 0 0 0.000781405 0 0 RIN3 79890 broad.mit.edu 37 14 93154369 93154369 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:93154369G>A ENST00000216487.7 + 10 2889 c.2730G>A c.(2728-2730)gcG>gcA p.A910A RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 910 Ras-associating. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CGCAGTGCGCGGAGAAGTTCG 0.721000 5 10 0 0 0.000602214 0 0 LRP2 4036 broad.mit.edu 37 2 170050321 170050321 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170050321C>T ENST00000263816.3 - 47 9065 c.8780G>A c.(8779-8781)gGt>gAt p.G2927D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2927 LDL-receptor class A 21. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCATTATCACCGTCACAGAT 0.473000 25 107 0 0 0.00278032 0 0 USH1C 10083 broad.mit.edu 37 11 17531327 17531327 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:17531327C>T ENST00000005226.7 - 18 1588 c.1589G>A c.(1588-1590)aGa>aAa p.R530K USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 PDZ 3. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TGCGAAGCGTCTCAAGGGTGG 0.602000 19 33 0 0 0.00278032 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552420 21552420 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:21552420C>T ENST00000281523.2 - 4 890 c.372G>A c.(370-372)aaG>aaA p.K124K ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 124 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TTGCGCTGTCCTTGGCAGTTA 0.463000 25 77 0 0 0.00127121 0 0 KIAA0101 9768 broad.mit.edu 37 15 64669029 64669029 + Missense_Mutation SNP A A T rs11554309 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:64669029A>T ENST00000300035.4 - 3 341 c.203T>A c.(202-204)tTc>tAc p.F68Y KIAA0101_ENST00000559519.1_Missense_Mutation_p.F41Y|KIAA0101_ENST00000560234.1_Missense_Mutation_p.S69T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.F68Y|KIAA0101_ENST00000380258.2_Intron NM_014736.4 NP_055551.1 Q15004 PAF_HUMAN KIAA0101 68 mitochondrion|nucleus central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 CAACCTAAAGAATTCTCCAAT 0.403000 7 32 0 0 0.000274275 0 0 WDR19 57728 broad.mit.edu 37 4 39247026 39247026 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:39247026C>T ENST00000399820.3 + 24 2837 c.2683C>T c.(2683-2685)Cct>Tct p.P895S WDR19_ENST00000288634.7_Missense_Mutation_p.P735S NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 895 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CGTTTCTTCTCCTAAGATCCA 0.408000 8 23 0 0 0.000673444 0 0 CALCRL 10203 broad.mit.edu 37 2 188245419 188245419 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:188245419C>T ENST00000409998.1 - 7 1061 c.280G>A c.(280-282)Gac>Aac p.D94N AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.D94N|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.D94N Q16602 CALRL_HUMAN calcitonin receptor-like 94 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GGATCAAAGTCCTGAAAGTAA 0.398000 21 32 0 0 0.00047179 0 0 NCOA5 57727 broad.mit.edu 37 20 44691023 44691023 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:44691023A>C ENST00000290231.6 - 8 1820 c.1656T>G c.(1654-1656)ccT>ccG p.P552P NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 552 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GGGAGAGAGCAGGGCCACTCT 0.527000 12 34 0 0 0.00185496 0 0 VAMP7 6845 broad.mit.edu 37 X 155171569 155171569 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:155171569C>T ENST00000286448.6 + 8 782 c.617C>T c.(616-618)tCa>tTa p.S206L VAMP7_ENST00000460621.1_Missense_Mutation_p.S165L|VAMP7_ENST00000262640.6_Silent_p.F183F|VAMP7_ENST00000479687.1_3'UTR NM_001145149.2|NM_005638.5 NP_001138621.1|NP_005629.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 206 calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCATTGTTTCACCTCTCTGT 0.353000 32 34 0 0 0.00148497 0 0 PADI4 23569 broad.mit.edu 37 1 17685896 17685896 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:17685896C>T ENST00000375448.4 + 15 1777 c.1751C>T c.(1750-1752)cCc>cTc p.P584L NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 584 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GCTTTTTTCCCCAACATGGTG 0.607000 23 91 0 0 0.00229938 0 0 TTC12 54970 broad.mit.edu 37 11 113210067 113210067 + Missense_Mutation SNP G G C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:113210067G>C ENST00000393020.1 + 10 1102 c.697G>C c.(697-699)Gaa>Caa p.E233Q TTC12_ENST00000314756.3_Missense_Mutation_p.E233Q|TTC12_ENST00000529221.1_Missense_Mutation_p.E233Q|TTC12_ENST00000483239.2_Missense_Mutation_p.E239Q Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 233 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GGAAGCCCACGAACTGCTGGA 0.463000 22 37 0 0 0.00278032 0 0 NANOGP1 404635 broad.mit.edu 37 12 8048092 8048092 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8048092C>T ENST00000607111.1 + 0 20 kidney(1)|lung(4)|prostate(1) 6 TTCCTTCCTCCATGGATCTGC 0.383000 21 67 0 0 0.00047179 0 0 RRP15 51018 broad.mit.edu 37 1 218480849 218480849 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:218480849T>G ENST00000366932.3 + 4 610 c.580T>G c.(580-582)Tct>Gct p.S194A NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) 194 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) AGCTGGAAGTTCTATGAGAAA 0.368000 6 43 0 0 0.00116845 0 0 FAT3 120114 broad.mit.edu 37 11 92086899 92086899 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:92086899G>A ENST00000298047.6 + 1 1638 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K FAT3_ENST00000409404.2_Missense_Mutation_p.E541K|FAT3_ENST00000541502.1_Missense_Mutation_p.E541K|FAT3_ENST00000525166.1_Missense_Mutation_p.E391K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 541 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding 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) ATCCTCCCCAGAAATTTACAG 0.398000 TCGA Ovarian(4;0.039) 114 118 0 0 0.000781405 0 0 SMOX 54498 broad.mit.edu 37 20 4167936 4167936 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:4167936C>T ENST00000305958.4 + 7 1775 c.1550C>T c.(1549-1551)tCc>tTc p.S517F SMOX_ENST00000278795.3_Missense_Mutation_p.S494F|SMOX_ENST00000339123.6_Missense_Mutation_p.S464F|SMOX_ENST00000379460.2_Missense_Mutation_p.S517F|SMOX_ENST00000346595.2_Missense_Mutation_p.S152F NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 517 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GTGCTGTTTTCCGGTGAGGCC 0.647000 8 22 0 0 0.000978159 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891712 18891712 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:18891712G>A ENST00000317658.3 + 1 668 c.510G>A c.(508-510)tgG>tgA p.W170* NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 170 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ACGGACTTTGGAAATCTAAAT 0.388000 24 12 0 0 0.00047179 0 0 FAT3 120114 broad.mit.edu 37 11 92533807 92533807 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:92533807G>A ENST00000298047.6 + 9 7645 c.7628G>A c.(7627-7629)cGa>cAa p.R2543Q FAT3_ENST00000409404.2_Missense_Mutation_p.R2543Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R2393Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2543 Cadherin 23. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding 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) GCCAAGGATCGATTCCTCATA 0.483000 TCGA Ovarian(4;0.039) 123 168 0 0 0.000781405 0 0 GPX6 257202 broad.mit.edu 37 6 28483479 28483479 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28483479G>A ENST00000361902.1 - 1 91 c.42C>T c.(40-42)ttC>ttT p.F14F GPX6_ENST00000483058.1_Intron|GPX6_ENST00000474923.1_Silent_p.F14F NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 14 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) AGCCAACCAGGAAAAACAGGA 0.547000 11 27 0 0 0.00185496 0 0 SLC9B1 150159 broad.mit.edu 37 4 103870499 103870499 + Silent SNP G G A rs78972166 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:103870499G>A ENST00000296422.7 - 4 438 c.297C>T c.(295-297)ttC>ttT p.F99F SLC9B1_ENST00000394789.3_Silent_p.F99F NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 99 integral to membrane solute:hydrogen antiporter activity AAAAAATAATGAACAACCCAA 0.348000 22 52 0 0 0.00047179 0 0 PASK 23178 broad.mit.edu 37 2 242051780 242051780 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:242051780G>A ENST00000405260.1 - 15 4106 c.3408C>T c.(3406-3408)atC>atT p.I1136I PASK_ENST00000544142.1_Silent_p.I950I|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Silent_p.I920I|PASK_ENST00000358649.4_Silent_p.I1143I|PASK_ENST00000234040.4_Silent_p.I1136I NM_001252120.1 NP_001239049.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1136 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AGTCCTCGGCGATCACGATGT 0.502000 24 32 0 0 0.00106085 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198498223 198498223 + Silent SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:198498223T>C ENST00000367381.1 - 4 294 c.189A>G c.(187-189)ctA>ctG p.L63L ATP6V1G3_ENST00000489986.1_Silent_p.L63L|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Silent_p.L57L|ATP6V1G3_ENST00000281087.2_Silent_p.L57L Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 57 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 TAGATTGTTTTAGTCGAAACT 0.338000 7 38 0 0 0.00198382 0 0 SIRPD 128646 broad.mit.edu 37 20 1517841 1517841 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1517841G>A ENST00000381623.3 - 3 1726 c.537C>T c.(535-537)ttC>ttT p.F179F SIRPD_ENST00000381621.1_Silent_p.F180F Q9H106 SIRPD_HUMAN signal-regulatory protein delta 179 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 AGGGTTGGACGAAATAGTTTG 0.617000 20 58 0 0 0.000958276 0 0 OR4M2 390538 broad.mit.edu 37 15 22369419 22369419 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:22369419C>T ENST00000332663.2 + 1 942 c.844C>T c.(844-846)Cct>Tct p.P282S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTTAATATTCCCTTTACGTAA 0.378000 5 23 0 0 0.00116845 0 0 MYH4 4622 broad.mit.edu 37 17 10364279 10364279 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10364279G>A ENST00000255381.2 - 12 1211 c.1101C>T c.(1099-1101)ttC>ttT p.F367F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 367 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTTTTGCTTGAATTTCATGT 0.478000 23 37 0 0 0.000586117 0 0 GSN 2934 broad.mit.edu 37 9 124074660 124074660 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:124074660G>A ENST00000373823.3 + 13 1462 c.557G>A c.(556-558)aGa>aAa p.R186K GSN_ENST00000373818.4_Missense_Mutation_p.R237K|GSN_ENST00000436847.1_Missense_Mutation_p.R197K|GSN_ENST00000412819.1_Missense_Mutation_p.R186K|GSN_ENST00000341272.2_Missense_Mutation_p.R186K|GSN_ENST00000373807.1_5'UTR|GSN_ENST00000449733.1_Missense_Mutation_p.R186K|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000545652.1_Missense_Mutation_p.R194K|GSN_ENST00000373808.2_Missense_Mutation_p.R186K|GSN_ENST00000394353.2_Missense_Mutation_p.R197K P06396 GELS_HUMAN gelsolin 237 actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding p.R237T(1)|p.R186T(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 CGGTATGAAAGACTGAAGGCC 0.617000 31 103 0 0 0.00058488 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656217 40656217 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:40656217C>T ENST00000406785.1 - 2 1393 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K SLC8A1_ENST00000403092.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E402K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E402K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E402K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E402K P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 402 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGGTCATTTTCAGTCACTTCA 0.483000 13 27 0 0 0.000308642 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628299 173628299 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:173628299C>T ENST00000333279.2 - 2 319 c.259G>A c.(259-261)Gct>Act p.A87T NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 103 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 CTTTGCCCAGCCATGCAAGCT 0.403000 32 134 0 0 0.0024448 0 0 NR2E3 10002 broad.mit.edu 37 15 72109979 72109979 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:72109979G>A ENST00000563709.1 + 0 179 AAGACCATAGGGAATACTCCA 0.468000 33 10 0 0 0.00209593 0 0 NF1 4763 broad.mit.edu 37 17 29654712 29654712 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:29654712C>T ENST00000358273.4 + 38 5847 c.5464C>T c.(5464-5466)Cag>Tag p.Q1822* NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1801* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1822 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGCCATTGTCCAGTCTATCAT 0.522000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 48 57 0 0 0.000781405 0 0 NUP160 23279 broad.mit.edu 37 11 47862106 47862106 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:47862106C>T ENST00000378460.2 - 3 395 c.349G>A c.(349-351)Gag>Aag p.E117K NUP160_ENST00000530326.1_Missense_Mutation_p.E3K|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_Missense_Mutation_p.E117K|NUP160_ENST00000528071.1_Missense_Mutation_p.E3K NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 117 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TCCAGTGACTCCTCCATCAGC 0.388000 29 29 0 0 0.00178596 0 0 FRMPD1 22844 broad.mit.edu 37 9 37729769 37729769 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:37729769C>T ENST00000539465.1 + 8 1250 c.657C>T c.(655-657)atC>atT p.I219I FRMPD1_ENST00000541302.1_Silent_p.I88I|FRMPD1_ENST00000377765.3_Silent_p.I219I|FRMPD1_ENST00000536622.1_Silent_p.I41I|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 219 FERM. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TCCGAAGTATCGAGTACTTTG 0.567000 26 74 0 0 0.000720815 0 0 RIPK3 11035 broad.mit.edu 37 14 24806336 24806336 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24806336G>A ENST00000216274.5 - 8 1449 c.1231C>T c.(1231-1233)Cct>Tct p.P411S RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.P85S NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 411 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GTTGAGGTAGGGCTGGGCATC 0.537000 13 44 0 0 0.00244969 0 0 PSG7 5676 broad.mit.edu 37 19 43439693 43439693 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:43439693C>T ENST00000406070.2 - 0 389 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TACTGTTTCTCATCCACTGTA 0.418000 146 188 0 0 0.000781405 0 0 WDR66 144406 broad.mit.edu 37 12 122359542 122359542 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122359542G>A ENST00000288912.4 + 2 1185 c.331G>A c.(331-333)Gag>Aag p.E111K WDR66_ENST00000397454.2_Missense_Mutation_p.E111K NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 111 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GATCCGTTTGGAGACACAGAT 0.418000 20 47 0 0 0.00188189 0 0 STRBP 55342 broad.mit.edu 37 9 125901857 125901857 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125901857G>A ENST00000447404.2 - 13 1752 c.1448C>T c.(1447-1449)tCa>tTa p.S483L STRBP_ENST00000348403.5_Missense_Mutation_p.S483L|STRBP_ENST00000360998.3_Missense_Mutation_p.S469L Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 483 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 ATTATTGCTTGAGTTTGAAGA 0.323000 27 32 0 0 0.000878237 0 0 KIAA1109 84162 broad.mit.edu 37 4 123207806 123207806 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:123207806C>T ENST00000264501.4 + 53 9521 c.9148C>T c.(9148-9150)Ccc>Tcc p.P3050S KIAA1109_ENST00000388738.3_Missense_Mutation_p.P3050S|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P3050S Q2LD37 K1109_HUMAN KIAA1109 3050 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 TCTTAACCTTCCCCCTGTTAC 0.393000 27 81 0 0 0.00127121 0 0 LILRA5 353514 broad.mit.edu 37 19 54823363 54823363 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54823363C>T ENST00000301219.3 - 4 299 c.180G>A c.(178-180)ggG>ggA p.G60G AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.G48G|LILRA5_ENST00000346508.3_Silent_p.G48G|LILRA5_ENST00000432233.3_Silent_p.G60G NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 60 Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACAGAGTTCCCCCGGCTGA 0.612000 19 54 0 0 0.00121646 0 0 FABP1 2168 broad.mit.edu 37 2 88425751 88425751 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:88425751C>T ENST00000393750.3 - 2 215 c.184G>A c.(184-186)Gaa>Aaa p.E62K FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E62K P07148 FABPL_HUMAN fatty acid binding protein 1, liver 62 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 ACCGTGAATTCGTTTTGGATC 0.517000 111 151 0 0 0.000781405 0 0 KCNJ6 3763 broad.mit.edu 37 21 38997754 38997754 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:38997754T>G ENST00000400482.3 - 4 1568 c.979A>C c.(979-981)Acc>Ccc p.T327P KCNJ6_ENST00000288309.6_Missense_Mutation_p.T327P NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 327 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ATCTCACTGGTGATGTAGGAG 0.517000 10 42 0 0 0.000673444 0 0 NINJ2 4815 broad.mit.edu 37 12 675180 675180 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:675180C>T ENST00000305108.4 - 2 616 c.336G>A c.(334-336)ctG>ctA p.L112L NINJ2_ENST00000397265.3_Silent_p.L59L|NINJ2_ENST00000433832.2_Silent_p.L30L|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000542920.1_Silent_p.L30L NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 66 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) TGAGGGTGACCAGGGTGGTGT 0.617000 14 51 0 0 0.000308642 0 0 BCOR 54880 broad.mit.edu 37 X 39933481 39933481 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:39933481G>A ENST00000342274.4 - 4 1480 c.1118C>T c.(1117-1119)tCa>tTa p.S373L BCOR_ENST00000378455.4_Missense_Mutation_p.S373L|BCOR_ENST00000378444.4_Missense_Mutation_p.S373L|BCOR_ENST00000397354.3_Missense_Mutation_p.S373L NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 373 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTATGGCTTTGACAGGGCAAC 0.602000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 34 2 0 0 0.00058488 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325121 150325121 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150325121C>T ENST00000328902.5 - 3 781 c.565G>A c.(565-567)Gat>Aat p.D189N GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 189 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGTCACATCCAGCCAGGCA 0.607000 38 210 0 0 0.00111076 0 0 ADHFE1 137872 broad.mit.edu 37 8 67364250 67364250 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:67364250C>T ENST00000396623.3 + 9 828 c.797C>T c.(796-798)cCc>cTc p.P266L ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.P218L|ADHFE1_ENST00000379385.4_Missense_Mutation_p.P266L NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 266 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CCTTCAAATCCCATCACACGG 0.537000 16 42 0 0 0.000422831 0 0 ZNF28 7576 broad.mit.edu 37 19 53303922 53303922 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53303922G>A ENST00000438150.2 - 2 1910 c.1017C>T c.(1015-1017)ttC>ttT p.F339F ZNF28_ENST00000414252.2_Silent_p.F339F|ZNF28_ENST00000360272.4_Silent_p.F339F|ZNF28_ENST00000457749.2_Silent_p.F392F P17035 ZNF28_HUMAN zinc finger protein 28 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATTTGCGACTGAAAACTTTTT 0.383000 52 75 0 0 0.000781405 0 0 LUC7L 55692 broad.mit.edu 37 16 256035 256035 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:256035C>T ENST00000337351.4 - 5 601 c.478G>A c.(478-480)Gaa>Aaa p.E160K LUC7L_ENST00000397780.1_Missense_Mutation_p.E107K|LUC7L_ENST00000397783.1_Missense_Mutation_p.E160K|LUC7L_ENST00000293872.8_Missense_Mutation_p.E160K NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 160 metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CGAACTTTTTCCACTTCCATA 0.413000 34 106 0 0 0.00058488 0 0 SULT1C3 442038 broad.mit.edu 37 2 108872050 108872050 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:108872050C>T ENST00000329106.2 + 4 422 c.422C>T c.(421-423)cCc>cTc p.P141L SULT1C3_ENST00000376700.1_Missense_Mutation_p.P141L NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 141 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 GCCAGAAATCCCAAGGATTGC 0.423000 12 46 0 0 0.000422831 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80266638 80266638 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:80266638G>A ENST00000450142.2 - 2 584 c.318C>T c.(316-318)ggC>ggT p.G106G PPP1R12A_ENST00000550107.1_Silent_p.G106G|PPP1R12A_ENST00000261207.5_Silent_p.G106G|PPP1R12A_ENST00000437004.2_Silent_p.G106G|PPP1R12A_ENST00000546369.1_Silent_p.G19G NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 106 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 GTGGTATCCAGCCTTCATTAT 0.368000 16 50 0 0 0.000422831 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768610 31768610 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:31768610C>T ENST00000355459.2 + 1 219 c.206C>T c.(205-207)tCc>tTc p.S69F NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 69 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCCAGACATCCTATGTGGAG 0.597000 41 19 0 0 0.00222228 0 0 KLHL26 55295 broad.mit.edu 37 19 18775173 18775173 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:18775173C>T ENST00000300976.4 + 2 276 c.186C>T c.(184-186)ctC>ctT p.L62L KLHL26_ENST00000599006.1_Silent_p.L62L|KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Silent_p.L62L NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 62 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGGGCCAGCTCCTCGATGTTG 0.637000 54 139 0 0 0.000781405 0 0 ITGA5 3678 broad.mit.edu 37 12 54799118 54799118 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:54799118G>A ENST00000293379.4 - 12 1318 c.1057C>T c.(1057-1059)Cgg>Tgg p.R353W RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 353 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TCAGGGGTCCGATCCATGAGC 0.657000 6 17 0 0 0.00198382 0 0 CACNA1F 778 broad.mit.edu 37 X 49061646 49061646 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:49061646A>T ENST00000376265.2 - 48 5946 c.5885T>A c.(5884-5886)tTc>tAc p.F1962Y CACNA1F_ENST00000323022.5_Missense_Mutation_p.F1951Y|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F1897Y NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1962 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CTCCTCATCGAAGCGGGAGAG 0.602000 14 0 0 0 0.000566183 0 0 PTDSS1 9791 broad.mit.edu 37 8 97299284 97299284 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:97299284C>T ENST00000517309.1 + 4 677 c.351C>T c.(349-351)ttC>ttT p.F117F PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 117 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TCCTGGTATTCCTACTCTTCC 0.408000 103 68 0 0 0.000781405 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378866 113378866 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:113378866G>A ENST00000316407.4 - 7 2073 c.1663C>T c.(1663-1665)Ctt>Ttt p.L555F KIAA2018_ENST00000478658.1_Missense_Mutation_p.L555F|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 555 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGTGGCTGAAGAATTATAACA 0.433000 25 52 0 0 0.00106085 0 0 BRWD1 54014 broad.mit.edu 37 21 40571405 40571405 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:40571405A>G ENST00000342449.3 - 40 5015 c.4937T>C c.(4936-4938)gTa>gCa p.V1646A BRWD1_ENST00000380800.3_Missense_Mutation_p.V1646A|BRWD1_ENST00000333229.2_Missense_Mutation_p.V1646A NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1646 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTCTCTTCTACATCACTCAT 0.408000 OREG0003861 type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 20 71 0 0 0.00121646 0 0 CHMP4C 92421 broad.mit.edu 37 8 82670747 82670747 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:82670747G>A ENST00000297265.4 + 5 863 c.670G>A c.(670-672)Gat>Aat p.D224N NM_152284.3 NP_689497.1 Q96CF2 CHM4C_HUMAN charged multivesicular body protein 4C 224 Intramolecular interaction with N- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 AGAGGATGATGATATCAAACA 0.318000 13 22 0 0 0.00244969 0 0 PTCD2 79810 broad.mit.edu 37 5 71627109 71627109 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:71627109C>T ENST00000380639.5 + 4 391 c.375C>T c.(373-375)ttC>ttT p.F125F PTCD2_ENST00000503868.1_Intron|PTCD2_ENST00000536805.1_Intron|PTCD2_ENST00000543322.1_Silent_p.F125F NM_024754.3 NP_079030.3 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 125 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) ACAAAAATTTCACTTTGGGGG 0.428000 46 97 0 0 0.000781405 0 0 SLC38A8 146167 broad.mit.edu 37 16 84070371 84070371 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:84070371G>A ENST00000299709.3 - 2 323 c.324C>T c.(322-324)ttC>ttT p.F108F NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 108 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGTTGAGGAGGAAGCAGGCCT 0.627000 6 24 0 0 0.00198382 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42439349 42439349 + Silent SNP G G A rs144722412 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:42439349G>A ENST00000397272.3 - 13 1489 c.1398C>T c.(1396-1398)ctC>ctT p.L466L PLA2G4F_ENST00000382396.4_Silent_p.L464L NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 464 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACTCAACAAGGAGGCCCCAGA 0.592000 5 16 0 0 0.00116845 0 0 IZUMO1 284359 broad.mit.edu 37 19 49244246 49244246 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49244246G>A ENST00000332955.2 - 10 1519 c.972C>T c.(970-972)tcC>tcT p.S324S NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 324 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CAAACAGTGAGGATTTGATGA 0.493000 14 73 0 0 0.000422831 0 0 GGT2 728441 broad.mit.edu 37 22 21563091 21563091 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:21563091G>A ENST00000401924.1 - 13 1922 c.1431C>T c.(1429-1431)atC>atT p.I477I GGT2_ENST00000424627.1_Silent_p.I477I|GGT2_ENST00000405188.4_Silent_p.I467I gamma-glutamyltransferase 2 TGTCTGTGGTGATCTGCGTGC 0.647000 15 45 0 0 0.000566183 0 0 ZNF79 7633 broad.mit.edu 37 9 130207219 130207219 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:130207219G>A ENST00000342483.5 + 5 1646 c.1240G>A c.(1240-1242)Gag>Aag p.E414K ZNF79_ENST00000543471.1_Missense_Mutation_p.E390K NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CCACACCGGGGAGAAGCCATA 0.483000 43 51 0 0 0.00170553 0 0 ABHD13 84945 broad.mit.edu 37 13 108881849 108881849 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:108881849G>A ENST00000375898.3 + 2 584 c.283G>A c.(283-285)Gat>Aat p.D95N NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 95 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CAGAACCAAAGATGGAATACG 0.393000 13 32 0 0 0.00244969 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606324 13606324 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:13606324G>A ENST00000040738.5 - 10 2335 c.2200C>T c.(2200-2202)Cca>Tca p.P734S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 734 Lys-rich. DNA binding TCTTCCGATGGAGTTTTCTCT 0.363000 21 35 0 0 0.00121646 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349480 58349480 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:58349480C>T ENST00000371015.1 + 7 1576 c.1109C>T c.(1108-1110)tCt>tTt p.S370F PHACTR3_ENST00000541461.1_Missense_Mutation_p.S329F|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S329F|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S367F|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S329F|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S259F|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S259F NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 370 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) ATCATAAATTCTGAACTCAAA 0.493000 43 115 0 0 0.00285205 0 0 RBMS3 27303 broad.mit.edu 37 3 29476339 29476339 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:29476339A>G ENST00000434693.2 + 2 878 c.178A>G c.(178-180)Acc>Gcc p.T60A RBMS3_ENST00000445033.1_Missense_Mutation_p.T61A|RBMS3_ENST00000452462.1_Missense_Mutation_p.T61A|RBMS3_ENST00000273139.9_Missense_Mutation_p.T61A|RBMS3_ENST00000383766.2_Missense_Mutation_p.T60A|RBMS3_ENST00000396583.3_Missense_Mutation_p.T61A|RBMS3_ENST00000456853.1_Missense_Mutation_p.T61A|RBMS3_ENST00000383767.2_Missense_Mutation_p.T61A NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 61 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GTTGAGTAAAACCAACCTGTA 0.572000 34 29 0 0 0.00058488 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62374129 62374129 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62374129C>T ENST00000266077.2 + 7 1090 c.1038C>T c.(1036-1038)atC>atT p.I346I SLC2A4RG_ENST00000493772.1_3'UTR NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 346 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCTCCAGGATCGGAGTCACCC 0.716000 5 8 0 0 0.000602214 0 0 TRIM25 7706 broad.mit.edu 37 17 54969163 54969163 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:54969163G>A ENST00000316881.4 - 9 1840 c.1791C>T c.(1789-1791)gtC>gtT p.V597V RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Silent_p.V597V NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 597 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) ACATCAGGTGGACCTTGTCGG 0.552000 11 26 0 0 0.000978159 0 0 DNAH8 1769 broad.mit.edu 37 6 38705606 38705606 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:38705606G>A ENST00000359357.3 + 5 577 c.323G>A c.(322-324)gGa>gAa p.G108E DNAH8_ENST00000441566.1_Missense_Mutation_p.G108E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G325E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGTATTGAGGGAACAGTGAAG 0.264000 30 53 0 0 0.0024448 0 0 BAAT 570 broad.mit.edu 37 9 104125001 104125001 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104125001G>A ENST00000259407.2 - 4 1074 c.966C>T c.(964-966)ttC>ttT p.F322F BAAT_ENST00000395051.3_Silent_p.F322F NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 322 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CTCCTACAATGAAGAGGAATT 0.468000 21 80 0 0 0.00278032 0 0 BCL7A 605 broad.mit.edu 37 12 122496996 122496996 + Splice_Site SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122496996A>G ENST00000538010.1 + 6 3294 c.e6-1 BCL7A_ENST00000261822.4_Splice_Site NM_020993.3 NP_066273.1 Q4VC05 BCL7A_HUMAN B-cell CLL/lymphoma 7A negative regulation of transcription, DNA-dependent haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) CCTCTCCCCAAGGATTTGGAA 0.537000 T MYC BNHL 30 33 0 0 0.00058488 0 0 FAM188B 84182 broad.mit.edu 37 7 30911861 30911861 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:30911861C>T ENST00000265299.6 + 14 1826 c.1749C>T c.(1747-1749)atC>atT p.I583I AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Silent_p.I46I|INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 583 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTTCCAGCATCCGCCAGGACT 0.592000 5 32 0 0 0.00116845 0 0 SERPINB5 5268 broad.mit.edu 37 18 61170677 61170677 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:61170677C>T ENST00000382771.4 + 7 1142 c.850C>T c.(850-852)Ccc>Tcc p.P284S NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 284 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 GATGATTGATCCCAAGGCTTG 0.448000 60 50 0 0 0.000781405 0 0 RFPL2 10739 broad.mit.edu 37 22 32588960 32588960 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:32588960G>A ENST00000400236.3 - 4 1420 c.215C>T c.(214-216)tCc>tTc p.S72F RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.S72F|RFPL2_ENST00000400237.1_Missense_Mutation_p.S162F|RFPL2_ENST00000248980.4_Missense_Mutation_p.S101F NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 162 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CTTGATGTGGGAAGCCAGCCT 0.532000 37 160 0 0 0.000953801 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121991717 121991717 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:121991717C>T ENST00000263707.5 - 12 1245 c.1148G>A c.(1147-1149)cGa>cAa p.R383Q NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 383 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) CAGGGGCACTCGATTCTGCTC 0.562000 18 57 0 0 0.000958276 0 0 NCR3 259197 broad.mit.edu 37 6 31557900 31557900 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31557900G>A ENST00000376073.4 - 2 310 c.47C>T c.(46-48)tCc>tTc p.S16F NCR3_ENST00000340027.5_Missense_Mutation_p.S16F|NCR3_ENST00000376071.4_Missense_Mutation_p.S16F|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Missense_Mutation_p.S16F NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 16 cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity p.S16F(1) cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 GAGAGCACAGGATCCTGGGGG 0.562000 11 11 0 0 0.000673444 0 0 KIF21B 23046 broad.mit.edu 37 1 200946498 200946498 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200946498C>A ENST00000332129.2 - 30 4444 c.4128G>T c.(4126-4128)tcG>tcT p.S1376S KIF21B_ENST00000360529.5_Silent_p.S1376S|KIF21B_ENST00000422435.2_Silent_p.S1389S|KIF21B_ENST00000461742.2_Silent_p.S1389S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1389 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCACCTGGCCCGAGGACCTGC 0.562000 6 121 0.00198382 0.00723911 0.00198382 1 0 DSC1 1823 broad.mit.edu 37 18 28719849 28719849 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28719849G>A ENST00000257197.3 - 11 1786 c.1525C>T c.(1525-1527)Cag>Tag p.Q509* DSC1_ENST00000257198.5_Nonsense_Mutation_p.Q509*|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 509 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCTAACTTCTGATACCTAATT 0.294000 5 35 0 0 0.00116845 0 0 KCNIP4 80333 broad.mit.edu 37 4 20884328 20884328 + Silent SNP G G A rs147165653 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:20884328G>A ENST00000382152.2 - 2 233 c.66C>T c.(64-66)ttC>ttT p.F22F KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382150.4_Intron NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 22 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GAGCGTACAGGAAACCTAGAA 0.507000 7 23 0 0 0.00198382 0 0 SLC2A3 6515 broad.mit.edu 37 12 8082411 8082411 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8082411C>T ENST00000075120.7 - 6 970 c.730G>A c.(730-732)Gat>Aat p.D244N NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 244 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) GCACTCTCATCTTTCATCTCC 0.483000 6 88 0 0 0.000978159 0 0 KIAA1217 56243 broad.mit.edu 37 10 24831670 24831670 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:24831670G>A ENST00000376451.2 + 13 2892 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1195K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E1159K|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E878K Q5T5P2 SKT_HUMAN KIAA1217 1195 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TGTTGAATATGAAAATGGCCC 0.423000 21 19 0 0 0.00229938 0 0 SLC12A3 6559 broad.mit.edu 37 16 56947280 56947280 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:56947280G>A ENST00000438926.2 + 26 3085 c.3056G>A c.(3055-3057)gGa>gAa p.G1019E SLC12A3_ENST00000566786.1_Missense_Mutation_p.G1018E|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G1009E|SLC12A3_ENST00000563352.1_3'UTR|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G1010E NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 1010 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTGATCCGAGGAAACCAGGAA 0.552000 39 82 0 0 0.00222228 0 0 NEFL 4747 broad.mit.edu 37 8 24813201 24813201 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:24813201C>T ENST00000221169.5 - 0 1423 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AACCATTCCTCAGCGTTCTGC 0.652000 17 19 0 0 0.000566183 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727414 25727414 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25727414C>T ENST00000274764.2 + 1 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 93 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 ACCATTTCTTCCAGAGAGATT 0.517000 20 70 0 0 0.00152264 0 0 BCAM 4059 broad.mit.edu 37 19 45321855 45321855 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:45321855C>T ENST00000391955.1 + 9 1199 c.1155C>T c.(1153-1155)tcC>tcT p.S385S BCAM_ENST00000270233.6_Silent_p.S385S P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 385 Ig-like C2-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGAACTGCTCCGTGCACGGCC 0.647000 42 51 0 0 0.00222228 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147679 100147679 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:100147679C>T ENST00000231461.5 - 5 1262 c.952G>A c.(952-954)Gat>Aat p.D318N NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 318 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TTTAAGTCATCATAATAATGA 0.353000 22 11 0 0 0.00152264 0 0 ARNTL 406 broad.mit.edu 37 11 13387075 13387075 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:13387075G>A ENST00000389708.3 + 10 843 c.488G>A c.(487-489)gGa>gAa p.G163E ARNTL_ENST00000396441.3_Missense_Mutation_p.G163E|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403290.1_Missense_Mutation_p.G163E|ARNTL_ENST00000361003.4_Missense_Mutation_p.G163E|ARNTL_ENST00000403510.3_Missense_Mutation_p.G120E|ARNTL_ENST00000401424.1_Missense_Mutation_p.G120E|ARNTL_ENST00000389707.4_Missense_Mutation_p.G163E|ARNTL_ENST00000403482.3_Missense_Mutation_p.G161E O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 163 PAS 1. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) TTTGTCGTAGGATGTGACCGA 0.418000 20 23 0 0 0.000720815 0 0 HECW1 23072 broad.mit.edu 37 7 43484569 43484569 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:43484569C>T ENST00000395891.1 + 11 2403 c.1798C>T c.(1798-1800)Ctc>Ttc p.L600F HECW1_ENST00000453890.1_Missense_Mutation_p.L600F NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 600 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GAAGGATGGGCTCAGCGAGGT 0.701000 6 32 0 0 0.00198382 0 0 MUC16 94025 broad.mit.edu 37 19 9068704 9068704 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9068704G>A ENST00000397910.4 - 3 18945 c.18742C>T c.(18742-18744)Ctt>Ttt p.L6248F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6250 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACAGAAACAAGAGAGGAGGTA 0.478000 39 35 0 0 0.00170553 0 0 BMP10 27302 broad.mit.edu 37 2 69093550 69093550 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:69093550C>T ENST00000295379.1 - 2 646 c.488G>A c.(487-489)cGg>cAg p.R163Q NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 163 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GGTAATTTTCCGGTCTACTCC 0.443000 8 43 0 0 0.000442599 0 0 PRDM9 56979 broad.mit.edu 37 5 23524458 23524458 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:23524458C>T ENST00000296682.3 + 10 1148 c.966C>T c.(964-966)gcC>gcT p.A322A NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 322 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGAACTGTGCCCGGGATGATG 0.537000 HNSCC(3;0.000094) 11 36 0 0 0.00188189 0 0 LONP2 83752 broad.mit.edu 37 16 48337130 48337130 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:48337130C>T ENST00000285737.4 + 11 1802 c.1709C>T c.(1708-1710)gCc>gTc p.A570V LONP2_ENST00000535754.1_Missense_Mutation_p.A526V NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 570 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AAACTTGGGGCCATTTGCCGA 0.438000 24 54 0 0 0.000720815 0 0 KCNH4 23415 broad.mit.edu 37 17 40321672 40321672 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:40321672G>A ENST00000264661.3 - 9 1745 c.1413C>T c.(1411-1413)ttC>ttT p.F471F KCNH4_ENST00000607371.1_Silent_p.F471F NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 471 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCACGTTCCCGAACACCACAG 0.657000 20 44 0 0 0.00047179 0 0 PEG3 5178 broad.mit.edu 37 19 57326440 57326440 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:57326440C>T ENST00000326441.9 - 10 3733 c.3370G>A c.(3370-3372)Gac>Aac p.D1124N ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D998N|PEG3_ENST00000423103.2_Missense_Mutation_p.D1124N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1000N|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1124 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCTGATGGTCTGTGAGGTCT 0.488000 52 89 0 0 0.000781405 0 0 GLG1 2734 broad.mit.edu 37 16 74516938 74516938 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:74516938G>A ENST00000422840.2 - 10 1655 c.1656C>T c.(1654-1656)ttC>ttT p.F552F GLG1_ENST00000447066.2_Silent_p.F541F|GLG1_ENST00000205061.5_Silent_p.F552F NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 552 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CCCGGGAGATGAAATACTGCA 0.393000 37 79 0 0 0.00128727 0 0 HNF4A 3172 broad.mit.edu 37 20 43058294 43058294 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43058294G>A ENST00000316099.3 + 10 1503 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K HNF4A_ENST00000415691.1_Missense_Mutation_p.E462K|HNF4A_ENST00000457232.1_Missense_Mutation_p.E440K NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 472 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CACCAAGCAGGAAGTTATCTA 0.632000 77 213 0 0 0.000781405 0 0 HNF4A 3172 broad.mit.edu 37 20 43057087 43057087 + Silent SNP C C T rs141448616 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43057087C>T ENST00000316099.3 + 9 1331 c.1242C>T c.(1240-1242)aaC>aaT p.N414N HNF4A_ENST00000415691.1_Silent_p.N414N|HNF4A_ENST00000457232.1_Silent_p.N392N NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 414 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ACCTCAGCAACGGACAGATGT 0.582000 65 239 0 0 0.000781405 0 0 SLFN11 91607 broad.mit.edu 37 17 33690150 33690150 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33690150T>A ENST00000394566.1 - 4 949 c.677A>T c.(676-678)tAt>tTt p.Y226F SLFN11_ENST00000308377.4_Missense_Mutation_p.Y226F NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 226 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTTTTTACATATTCTTGGAA 0.383000 61 24 0 0 0.000781405 0 0 TENM2 57451 broad.mit.edu 37 5 167420183 167420183 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:167420183C>T ENST00000519204.1 + 4 937 c.819C>T c.(817-819)ttC>ttT p.F273F TENM2_ENST00000403607.2_Silent_p.F227F|TENM2_ENST00000545108.1_Silent_p.F394F|TENM2_ENST00000520394.1_Silent_p.F203F|TENM2_ENST00000518659.1_Silent_p.F394F teneurin transmembrane protein 2 TGGCGTATTTCATAGGTAAGT 0.532000 19 30 0 0 0.00121646 0 0 SPPL2C 162540 broad.mit.edu 37 17 43924178 43924178 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:43924178C>T ENST00000329196.5 + 1 1923 c.1906C>T c.(1906-1908)Cca>Tca p.P636S MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 636 integral to membrane aspartic-type endopeptidase activity CATGCTGATCCCACTCATGCC 0.662000 32 23 0 0 0.0024448 0 0 LYNX1 66004 broad.mit.edu 37 8 143857012 143857012 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143857012G>A ENST00000398906.1 - 3 537 c.154_splice c.e3+1 p.T51_splice LYNX1_ENST00000335822.5_Splice_Site_p.T51_splice|LYNX1_ENST00000523332.1_Splice_Site_p.T51_splice|LYNX1_ENST00000395192.2_Splice_Site_p.T51_splice|LYNX1_ENST00000345173.6_Splice_Site_p.T51_splice NM_177477.2 NP_803430.1 Q86SR0 SLUR2_HUMAN Ly6/neurotoxin 1 52 UPAR/Ly6. extracellular region 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) CAGACTCACAGGTGCGCGTGG 0.662000 8 5 0 0 0.000157383 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677298 37677298 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:37677298G>A ENST00000532828.2 - 5 1392 c.1141C>T c.(1141-1143)Cct>Tct p.P381S CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P326S NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATTCATAAGGTTTCTCTCCA 0.413000 23 85 0 0 0.000878237 0 0 COL1A2 1278 broad.mit.edu 37 7 94058723 94058723 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:94058723T>C ENST00000297268.6 + 51 4406 c.3935T>C c.(3934-3936)gTt>gCt p.V1312A NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1312 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ACTTACACTGTTCTTGTAGAT 0.478000 HNSCC(75;0.22) 53 3 0 0 0.000781405 0 0 NEURL1 9148 broad.mit.edu 37 10 105330650 105330650 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105330650C>T ENST00000369780.4 + 2 516 c.107C>T c.(106-108)cCc>cTc p.P36L NEURL_ENST00000369777.2_Missense_Mutation_p.P19L NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 36 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GGCCCCTTCCCCGTCACTTCT 0.652000 44 56 0 0 0.000781405 0 0 PPARD 5467 broad.mit.edu 37 6 35392531 35392531 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:35392531C>T ENST00000311565.4 + 8 1402 c.1053C>T c.(1051-1053)ttC>ttT p.F351F PPARD_ENST00000337400.2_Silent_p.F351F|PPARD_ENST00000360694.3_Silent_p.F351F|PPARD_ENST00000540939.1_Silent_p.F248F|PPARD_ENST00000448077.2_Silent_p.F312F|PPARD_ENST00000418635.2_Silent_p.F253F|PPARD_ENST00000444397.1_Silent_p.F351F NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 351 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) TGGCCCTATTCATTGCGGCCA 0.567000 17 12 0 0 0.00152264 0 0 LRRC30 339291 broad.mit.edu 37 18 7231221 7231221 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:7231221C>T ENST00000383467.2 + 1 99 c.85C>T c.(85-87)Ccg>Tcg p.P29S NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 29 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GAAGTTTTCTCCGTGGGACGA 0.607000 42 38 0 0 0.00170553 0 0 CDH9 1007 broad.mit.edu 37 5 26915833 26915833 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:26915833G>A ENST00000231021.4 - 3 600 c.428C>T c.(427-429)tCg>tTg p.S143L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 143 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GATAAATTCCGATTCCGGTTC 0.398000 67 32 0 0 0.000781405 0 0 IKZF2 22807 broad.mit.edu 37 2 213872633 213872633 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:213872633G>A ENST00000457361.1 - 8 1200 c.1032C>T c.(1030-1032)atC>atT p.I344I IKZF2_ENST00000374327.4_Silent_p.I199I|IKZF2_ENST00000342002.2_Silent_p.I350I|IKZF2_ENST00000421754.2_Silent_p.I270I|IKZF2_ENST00000451136.2_Silent_p.I272I|IKZF2_ENST00000374319.4_Silent_p.I318I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Silent_p.I344I NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCACTTCAGCGATTGTGCTTG 0.478000 6 18 0 0 0.000157383 0 0 COL12A1 1303 broad.mit.edu 37 6 75828862 75828862 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:75828862C>T ENST00000322507.8 - 46 7560 c.7251G>A c.(7249-7251)tgG>tgA p.W2417* COL12A1_ENST00000483888.2_Nonsense_Mutation_p.W2417*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.W1253*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.W2417* NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2417 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength 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 TGCCGCTCTCCCAAGTCAAGA 0.498000 8 15 0 0 0.000157383 0 0 EPHA7 2045 broad.mit.edu 37 6 94120784 94120784 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:94120784C>T ENST00000369303.4 - 3 451 c.267G>A c.(265-267)tgG>tgA p.W89* EPHA7_ENST00000369297.1_Nonsense_Mutation_p.W89* NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 89 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTTTGGAAATCCAGTTAGTCC 0.438000 17 24 0 0 0.000422831 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067241 18067241 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:18067241G>A ENST00000506618.2 - 1 245 c.165C>T c.(163-165)atC>atT p.I55I NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 55 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) CACTCTGAACGATGTAGACAT 0.493000 195 302 0 0 0.000781405 0 0 GRIK3 2899 broad.mit.edu 37 1 37270690 37270690 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:37270690G>A ENST00000373091.3 - 15 2479 c.2463C>T c.(2461-2463)atC>atT p.I821I GRIK3_ENST00000373093.4_Silent_p.I821I NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 821 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGATGCCCCCGATCTTCTGGA 0.597000 32 104 0 0 0.000692331 0 0 NUP210L 91181 broad.mit.edu 37 1 154101776 154101776 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:154101776T>C ENST00000368559.3 - 8 1126 c.1055A>G c.(1054-1056)tAt>tGt p.Y352C NUP210L_ENST00000271854.3_Missense_Mutation_p.Y352C NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 352 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTCTACAACATATATGGTGCA 0.363000 30 173 0 0 0.00058488 0 0 FAM46D 169966 broad.mit.edu 37 X 79698282 79698282 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:79698282G>A ENST00000538312.1 + 5 578 c.244G>A c.(244-246)Gat>Aat p.D82N FAM46D_ENST00000308293.5_Missense_Mutation_p.D82N NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 82 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 CAGCTATAAGGATCTGGACGT 0.383000 5 10 0 0 0.00116845 0 0 KIF21B 23046 broad.mit.edu 37 1 200957646 200957646 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200957646C>T ENST00000332129.2 - 23 3641 c.3325G>A c.(3325-3327)Gag>Aag p.E1109K KIF21B_ENST00000360529.5_Missense_Mutation_p.E1109K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E1109K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E1109K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1109 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCTGAGATCTCCTCATCTGTG 0.597000 4 15 0 0 0.000602214 0 0 FOXP2 93986 broad.mit.edu 37 7 114304412 114304412 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:114304412C>T ENST00000408937.3 + 17 2373 c.1999C>T c.(1999-2001)Cac>Tac p.H667Y FOXP2_ENST00000393489.3_Missense_Mutation_p.H550Y|FOXP2_ENST00000393494.2_Missense_Mutation_p.H642Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.H642Y|FOXP2_ENST00000393491.3_Missense_Mutation_p.H457Y|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.H621Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.H659Y NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 642 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GCAGGCCGTCCACGAAGACCT 0.488000 33 9 0 0 0.0024448 0 0 ITGAD 3681 broad.mit.edu 37 16 31429642 31429642 + Silent SNP C C T rs139262186 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31429642C>T ENST00000389202.2 + 22 2686 c.2637C>T c.(2635-2637)ttC>ttT p.F879F NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 879 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TAGTCACATTCGATGTCTCCT 0.562000 18 51 0 0 0.00278032 0 0 TNK2 10188 broad.mit.edu 37 3 195615303 195615303 + Missense_Mutation SNP G G A rs142416449 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:195615303G>A ENST00000333602.6 - 2 774 c.157C>T c.(157-159)Cgg>Tgg p.R53W TNK2_ENST00000381916.2_Missense_Mutation_p.R116W|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Missense_Mutation_p.R85W|TNK2_ENST00000316664.3_Missense_Mutation_p.R53W|TNK2_ENST00000392400.1_Missense_Mutation_p.R53W NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 53 SAM-like domain. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CTACCAGGCCGACCCATGCCG 0.597000 17 43 0 0 0.00074312 0 0 GFRAL 389400 broad.mit.edu 37 6 55264058 55264058 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:55264058C>T ENST00000340465.2 + 7 1119 c.1033C>T c.(1033-1035)Cat>Tat p.H345Y NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 345 integral to membrane receptor activity p.H345Y(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AACTGGATTTCATTCCCCCTT 0.284000 9 9 0 0 0.000274275 0 0 SLC4A8 9498 broad.mit.edu 37 12 51863539 51863539 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:51863539G>A ENST00000453097.2 + 12 1708 c.1491G>A c.(1489-1491)ggG>ggA p.G497G SLC4A8_ENST00000358657.3_Silent_p.G524G|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Silent_p.G444G|SLC4A8_ENST00000535225.2_Silent_p.G444G|SLC4A8_ENST00000514353.3_Silent_p.G444G NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 497 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TCACCTTTGGGGGACTGCTTG 0.502000 29 78 0 0 0.0024448 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139395 142139395 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142139395G>A ENST00000390374.3 - 0 274 GGGCAGCCCTGATTTGTCTTG 0.552000 69 38 0 0 0.000781405 0 0 CADPS2 93664 broad.mit.edu 37 7 122114448 122114448 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:122114448G>A ENST00000334010.7 - 12 2409 c.1988C>T c.(1987-1989)tCc>tTc p.S663F CADPS2_ENST00000449022.2_Missense_Mutation_p.S662F|CADPS2_ENST00000313070.7_Missense_Mutation_p.S659F|CADPS2_ENST00000412584.2_Missense_Mutation_p.S659F NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 662 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GCAAGAATAGGAATCATTCAG 0.378000 19 65 0 0 0.00152264 0 0 MDC1 9656 broad.mit.edu 37 6 30680194 30680194 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:30680194G>A ENST00000376406.3 - 5 2172 c.1525C>T c.(1525-1527)Cac>Tac p.H509Y MDC1_ENST00000376405.2_Missense_Mutation_p.H509Y|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 509 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CTCTCCAGGTGGATCCCAGGT 0.488000 Other conserved DNA damage response genes 34 76 0 0 0.000692331 0 0 KRT5 3852 broad.mit.edu 37 12 52913943 52913943 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52913943G>A ENST00000252242.4 - 1 528 c.138C>T c.(136-138)ttC>ttT p.F46F NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 46 Gly-rich.|Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton p.F46F(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TGACCCTGCCGAAGCCACCAC 0.652000 15 27 0 0 0.000308642 0 0 OR6T1 219874 broad.mit.edu 37 11 123813676 123813676 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:123813676G>A ENST00000321252.2 - 1 904 c.870C>T c.(868-870)ttC>ttT p.F290F NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGCGGAGAGTGAAGATGAATG 0.512000 52 76 0 0 0.000781405 0 0 CLDN7 1366 broad.mit.edu 37 17 7164257 7164257 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:7164257C>T ENST00000538261.3 - 2 1172 c.271G>A c.(271-273)Ggc>Agc p.G91S RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000571881.2_Missense_Mutation_p.G82E|CLDN7_ENST00000397317.4_Missense_Mutation_p.G91S|CLDN7_ENST00000360325.7_Missense_Mutation_p.G91S NM_001185023.1 NP_001171952.1 O95471 CLD7_HUMAN claudin 7 91 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 GCCAGGAAGCCCAGCACCAGG 0.632000 20 2 0 0 0.00121646 0 0 ELMO1 9844 broad.mit.edu 37 7 37354483 37354483 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:37354483C>T ENST00000310758.4 - 4 810 c.163G>A c.(163-165)Gat>Aat p.D55N ELMO1_ENST00000448602.1_Missense_Mutation_p.D55N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D55N NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 55 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTTGAACTATCGGCATGCTGG 0.323000 23 32 0 0 0.001512 0 0 WFS1 7466 broad.mit.edu 37 4 6279305 6279305 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:6279305C>T ENST00000226760.1 + 2 293 c.123C>T c.(121-123)ccC>ccT p.P41P WFS1_ENST00000503569.1_Silent_p.P41P NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 41 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) GCGAAAGGCCCCGAGCACCCG 0.711000 38 72 0 0 0.00128727 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870663 51870663 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:51870663G>A ENST00000371497.5 + 2 1553 c.666G>A c.(664-666)gcG>gcA p.A222A TSHZ2_ENST00000329613.6_Silent_p.A219A|TSHZ2_ENST00000603338.2_Silent_p.A219A NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 222 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGTGCAGCGCGGCCTATGACA 0.557000 13 46 0 0 0.00185496 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719394 162719394 + Silent SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:162719394T>A ENST00000375514.5 + 7 908 c.621T>A c.(619-621)ctT>ctA p.L207L SLC4A10_ENST00000272716.5_Silent_p.L196L|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Silent_p.L196L|SLC4A10_ENST00000415876.2_Silent_p.L196L|SLC4A10_ENST00000446997.1_Silent_p.L196L|SLC4A10_ENST00000421911.1_Silent_p.L196L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 196 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATATGGTTCTTGACCAACAAG 0.458000 8 14 0 0 0.000442599 0 0 KLF17 128209 broad.mit.edu 37 1 44595390 44595390 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:44595390G>A ENST00000372299.3 + 2 505 c.447G>A c.(445-447)ggG>ggA p.G149G KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 149 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CCTTCGGTGGGAATCTAAGGA 0.567000 19 20 0 0 0.00074312 0 0 PRRC2A 7916 broad.mit.edu 37 6 31594925 31594925 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31594925C>T ENST00000376033.2 + 11 1474 c.1240C>T c.(1240-1242)Cca>Tca p.P414S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P414S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 414 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TCCCCTACCCCCACCTCACCG 0.657000 7 10 0 0 0.000157383 0 0 FMO2 2327 broad.mit.edu 37 1 171168578 171168578 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171168578G>A ENST00000441535.1 + 5 695 c.578G>A c.(577-579)gGa>gAa p.G193E FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G193E|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 193 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATTGGAATGGGAAACTCAGGC 0.493000 14 100 0 0 0.000958276 0 0 ASCC2 84164 broad.mit.edu 37 22 30200727 30200727 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30200727G>A ENST00000397771.2 - 14 1430 c.1253C>T c.(1252-1254)tCg>tTg p.S418L ASCC2_ENST00000542393.1_Missense_Mutation_p.S342L|ASCC2_ENST00000307790.3_Missense_Mutation_p.S418L Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CTCAATCACCGATGGGTCTTT 0.582000 83 589 0 0 0.000781405 0 0 PRR16 51334 broad.mit.edu 37 5 120022262 120022262 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:120022262C>T ENST00000379551.2 + 3 1061 c.704C>T c.(703-705)cCt>cTt p.P235L PRR16_ENST00000505123.1_Missense_Mutation_p.P188L|PRR16_ENST00000407149.2_Missense_Mutation_p.P258L|PRR16_ENST00000446965.1_Missense_Mutation_p.P188L NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 258 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCCCATCTCCCTCCTTTCCCA 0.537000 9 7 0 0 0.000442599 0 0 GPR149 344758 broad.mit.edu 37 3 154147234 154147234 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:154147234G>A ENST00000389740.2 - 1 270 c.171C>T c.(169-171)tcC>tcT p.S57S NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 57 integral to membrane|plasma membrane G-protein coupled receptor activity 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) TTTTCAGCAGGGAAATTAGTG 0.443000 21 53 0 0 0.00152264 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895554 42895554 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:42895554G>A ENST00000399770.2 + 1 271 c.271G>A c.(271-273)Ggt>Agt p.G91S NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 91 G -> V. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CAGTGAGAAGGGTTTTGGTAC 0.453000 23 18 0 0 0.00047179 0 0 CASR 846 broad.mit.edu 37 3 121981042 121981042 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121981042G>A ENST00000498619.1 + 4 1598 c.1160G>A c.(1159-1161)aGc>aAc p.S387N CASR_ENST00000490131.1_Missense_Mutation_p.S387N|CASR_ENST00000296154.5_Missense_Mutation_p.S387N NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 387 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTTAGCAACAGCTCGACAGCC 0.488000 15 49 0 0 0.00244969 0 0 F8 2157 broad.mit.edu 37 X 154175986 154175986 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:154175986C>T ENST00000360256.4 - 13 2300 c.2100G>A c.(2098-2100)tcG>tcA p.S700S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 700 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGTTTTCCATCGACATGAAGA 0.413000 40 52 0 0 0.000781405 0 0 GJA4 2701 broad.mit.edu 37 1 35260362 35260362 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35260362C>T ENST00000342280.4 + 2 636 c.548C>T c.(547-549)cCc>cTc p.P183L NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 183 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACCATGGAGCCCGTGTTTGTG 0.587000 17 60 0 0 0.000566183 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6882234 6882234 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6882234C>T ENST00000419673.2 + 10 1129 c.912C>T c.(910-912)ttC>ttT p.F304F ARHGAP28_ENST00000418986.1_Silent_p.F304F|ARHGAP28_ENST00000400091.2_Silent_p.F463F|ARHGAP28_ENST00000383472.4_Silent_p.F463F|ARHGAP28_ENST00000262227.3_Silent_p.F411F|ARHGAP28_ENST00000532996.1_Silent_p.F286F|ARHGAP28_ENST00000314319.3_Silent_p.F304F|ARHGAP28_ENST00000531294.1_Silent_p.F299F NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 286 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) AAGCGTTTTTCAGAGAACTAC 0.393000 18 68 0 0 0.00152264 0 0 DNAH17 8632 broad.mit.edu 37 17 76471856 76471856 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76471856C>T ENST00000389840.5 - 53 8296 c.8172G>A c.(8170-8172)ggG>ggA p.G2724G DNAH17_ENST00000585328.1_Silent_p.G2733G|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 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) GATCGCCAATCCCTTGAGCAA 0.438000 26 40 0 0 0.001512 0 0 PTPRB 5787 broad.mit.edu 37 12 70954661 70954661 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:70954661G>A ENST00000334414.6 - 17 4266 c.4222C>T c.(4222-4224)Ctt>Ttt p.L1408F PTPRB_ENST00000538708.1_Missense_Mutation_p.L1100F|PTPRB_ENST00000451516.2_Missense_Mutation_p.L1100F|PTPRB_ENST00000261266.5_Missense_Mutation_p.L1190F|PTPRB_ENST00000551525.1_Missense_Mutation_p.L1407F|PTPRB_ENST00000550857.1_Missense_Mutation_p.L1100F|PTPRB_ENST00000550358.1_Missense_Mutation_p.L1320F NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1190 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTGAACCAAAGGCTGTCTGTC 0.448000 27 55 0 0 0.00106085 0 0 ANKS6 203286 broad.mit.edu 37 9 101530400 101530400 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:101530400G>A ENST00000353234.4 - 11 2152 c.2105C>T c.(2104-2106)cCa>cTa p.P702L ANKS6_ENST00000375018.1_Missense_Mutation_p.P702L|ANKS6_ENST00000375019.2_Missense_Mutation_p.P401L|ANKS6_ENST00000540940.1_Missense_Mutation_p.P507L Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 702 Ser-rich. endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) AGGGGAGGCTGGAAGCTCAGA 0.587000 15 16 0 0 0.00244969 0 0 KIAA1024 23251 broad.mit.edu 37 15 79760660 79760660 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:79760660G>A ENST00000305428.3 + 4 2760 c.2685G>A c.(2683-2685)ctG>ctA p.L895L NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 895 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TAGCTGCTCTGATCGCTGCTG 0.453000 9 26 0 0 0.000274275 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122340 39122340 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:39122340C>T ENST00000216044.5 + 8 1529 c.1296C>T c.(1294-1296)gaC>gaT p.D432D GTPBP1_ENST00000460605.1_3'UTR NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 432 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) TGGGCCCAGACCCCTTGGGTA 0.592000 56 41 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13776775 13776775 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13776775T>A ENST00000265104.4 - 55 9250 c.9146A>T c.(9145-9147)aAt>aTt p.N3049I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3049 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGGTCGCTATTAATTTCATC 0.408000 Kartagener syndrome 22 34 0 0 0.00188189 0 0 FBXL13 222235 broad.mit.edu 37 7 102495290 102495290 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:102495290G>T ENST00000379308.3 - 17 2079 c.1653C>A c.(1651-1653)tcC>tcA p.S551S FBXL13_ENST00000455112.2_Silent_p.S551S|FBXL13_ENST00000436908.1_Silent_p.S551S|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Silent_p.S551S|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 551 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TTTTATGTCTGGAAAGCACAT 0.264000 15 4 1.49906e-05 5.50843e-05 0.00244969 1 0 ADAMTS19 171019 broad.mit.edu 37 5 129037128 129037128 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:129037128G>A ENST00000274487.4 + 20 3129 c.2984G>A c.(2983-2985)gGa>gAa p.G995E ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 995 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGTGGAAAAGGAATGCAGAGC 0.488000 17 55 0 0 0.00121646 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90534241 90534241 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:90534241G>A ENST00000602681.1 + 0 987 CCAGAGGCAGGATGAAAAACC 0.542000 20 126 0 0 0.000878237 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786072 19786072 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:19786072C>T ENST00000341998.2 - 1 854 c.793G>A c.(793-795)Gaa>Aaa p.E265K SLC24A2_ENST00000286344.3_Missense_Mutation_p.E265K NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 265 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AGCAAGCTTTCCCACCACATG 0.383000 14 3 0 0 0.00244969 0 0 UNC5A 90249 broad.mit.edu 37 5 176295932 176295932 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:176295932C>T ENST00000329542.4 + 5 962 c.688C>T c.(688-690)Cgc>Tgc p.R230C UNC5A_ENST00000261961.3_Missense_Mutation_p.R190C NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 230 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGTGGCACGTCGCCGCAGCGC 0.657000 16 18 0 0 0.00121646 0 0 TAT 6898 broad.mit.edu 37 16 71602167 71602167 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:71602167G>A ENST00000355962.4 - 12 1378 c.1245C>T c.(1243-1245)ttC>ttT p.F415F RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 415 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CCACTCGGATGAAATTCGGGT 0.522000 17 37 0 0 0.000566183 0 0 TXLNG 55787 broad.mit.edu 37 X 16847824 16847824 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:16847824C>T ENST00000380122.5 + 5 856 c.795C>T c.(793-795)ctC>ctT p.L265L TXLNG_ENST00000398155.4_Silent_p.L133L NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 265 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 ACGCCAAACTCCGACAGGAAA 0.453000 9 23 0 0 0.000442599 0 0 CD22 933 broad.mit.edu 37 19 35823503 35823503 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:35823503G>A ENST00000085219.5 + 3 154 c.88G>A c.(88-90)Gaa>Aaa p.E30K CD22_ENST00000544992.2_Missense_Mutation_p.E30K|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.E30K|CD22_ENST00000594250.1_Missense_Mutation_p.E30K|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.E30K NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 30 Ig-like V-type. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGAGCACCCTGAAACCCTCTA 0.512000 23 80 0 0 0.00188189 0 0 ESPNL 339768 broad.mit.edu 37 2 239025582 239025582 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:239025582C>T ENST00000343063.3 + 5 1157 c.894C>T c.(892-894)tcC>tcT p.S298S ESPNL_ENST00000409169.1_Intron NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 298 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TGGACCCCTCCCTGCGGGATG 0.652000 16 35 0 0 0.000422831 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512659 70512659 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:70512659C>T ENST00000503640.1 - 1 759 c.704G>A c.(703-705)aGt>aAt p.S235N UGT2A1_ENST00000512704.1_Missense_Mutation_p.S235N|UGT2A1_ENST00000286604.4_Missense_Mutation_p.S235N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S235N NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 235 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TAAAGCTTTACTATAGTATGA 0.323000 9 19 0 0 0.000274275 0 0 NHSL2 340527 broad.mit.edu 37 X 71359742 71359742 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:71359742G>A ENST00000373677.1 + 2 2508 c.1246G>A c.(1246-1248)Gat>Aat p.D416N NHSL2_ENST00000510661.1_Missense_Mutation_p.D551N|NHSL2_ENST00000535692.1_Missense_Mutation_p.D416N|NHSL2_ENST00000540800.1_Missense_Mutation_p.D782N F5H593 F5H593_HUMAN NHS-like 2 782 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) ACCCAACCTGGATCTGTCTGG 0.498000 13 3 0 0 0.000308642 0 0 KRT16P3 644945 broad.mit.edu 37 17 20407403 20407403 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:20407403C>T ENST00000580113.1 - 0 252 CACCAGAAGCCCATCAccacc 0.627000 15 11 0 0 0.000958276 0 0 TTN 7273 broad.mit.edu 37 2 179640734 179640734 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179640734C>T ENST00000589042.1 - 28 6081 c.5857G>A c.(5857-5859)Gaa>Aaa p.E1953K TTN_ENST00000360870.5_Missense_Mutation_p.E1953K|TTN_ENST00000591111.1_Missense_Mutation_p.E1953K|TTN_ENST00000359218.5_Missense_Mutation_p.E1907K|TTN_ENST00000342175.6_Missense_Mutation_p.E1907K|TTN_ENST00000342992.6_Missense_Mutation_p.E1953K|TTN_ENST00000460472.2_Missense_Mutation_p.E1907K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1690 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCCTGGTTCATGTACGTGA 0.418000 52 81 0 0 0.000781405 0 0 CRB1 23418 broad.mit.edu 37 1 197297974 197297974 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:197297974G>A ENST00000367400.3 + 2 628 c.493G>A c.(493-495)Gat>Aat p.D165N CRB1_ENST00000535699.1_Missense_Mutation_p.D96N|CRB1_ENST00000367399.2_Missense_Mutation_p.D165N|CRB1_ENST00000538660.1_Missense_Mutation_p.D165N NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 165 EGF-like 4; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGTGTGCCAGGATGGAATTGA 0.512000 6 36 0 0 0.00116845 0 0 ADK 132 broad.mit.edu 37 10 76154057 76154057 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:76154057C>T ENST00000372734.3 + 5 568 c.381C>T c.(379-381)atC>atT p.I127I ADK_ENST00000286621.2_Silent_p.I144I|ADK_ENST00000541550.1_Silent_p.I109I|ADK_ENST00000539909.1_Silent_p.I144I NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 144 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) CTGCATGCATCACTGGTGACA 0.413000 22 36 0 0 0.00047179 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110497314 110497314 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:110497314C>T ENST00000378402.5 + 58 9722 c.9618C>T c.(9616-9618)ttC>ttT p.F3206F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3206 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCTACGATTTCCACCAGACAG 0.323000 HNSCC(38;0.096) 9 23 0 0 0.000442599 0 0 MAP7 9053 broad.mit.edu 37 6 136698940 136698940 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:136698940G>A ENST00000354570.3 - 7 1114 c.704C>T c.(703-705)tCg>tTg p.S235L MAP7_ENST00000432797.2_Missense_Mutation_p.S89L|MAP7_ENST00000544465.1_Missense_Mutation_p.S220L|MAP7_ENST00000438100.2_Missense_Mutation_p.S220L|MAP7_ENST00000454590.1_Missense_Mutation_p.S257L NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 235 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) GGCCAGGAACGAATGTGTGGG 0.527000 26 46 0 0 0.00127121 0 0 CSMD1 64478 broad.mit.edu 37 8 3076893 3076893 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:3076893C>T ENST00000520002.1 - 30 5114 c.4559G>A c.(4558-4560)gGg>gAg p.G1520E CSMD1_ENST00000542608.1_Missense_Mutation_p.G1519E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1519E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1519E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1520E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1520E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1520E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1520 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGGTAACTCCCAATGAGGGG 0.478000 15 7 0 0 0.000566183 0 0 PRDM16 63976 broad.mit.edu 37 1 3328303 3328303 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:3328303C>T ENST00000378398.3 + 10 1627 c.1545C>T c.(1543-1545)ttC>ttT p.F515F PRDM16_ENST00000442529.2_Silent_p.F514F|PRDM16_ENST00000441472.2_Silent_p.F514F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.F514F|PRDM16_ENST00000270722.5_Silent_p.F514F|PRDM16_ENST00000514189.1_Silent_p.F515F|PRDM16_ENST00000511072.1_Silent_p.F515F Q9HAZ2 PRD16_HUMAN PR domain containing 16 514 Pro-rich. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCCCCGGCTTCCCGGGCATCT 0.682000 T EVI1 """MDS, AML""" 28 125 0 0 0.00058488 0 0 GUCA1C 9626 broad.mit.edu 37 3 108626884 108626884 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:108626884C>T ENST00000261047.3 - 4 747 c.615G>A c.(613-615)aaG>aaA p.K205K GUCA1C_ENST00000393963.3_3'UTR NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 205 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 TCATTTTCACCTTCCCTAGAC 0.453000 8 21 0 0 0.000274275 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045040 55045040 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55045040C>T ENST00000335056.3 + 3 198 c.160C>T c.(160-162)Cgg>Tgg p.R54W p.R54W(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TTCCCATCTTCGGTTTGTCAT 0.537000 16 42 0 0 0.00074312 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606249 84606249 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:84606249C>T ENST00000344803.2 + 4 911 c.864C>T c.(862-864)ccC>ccT p.P288P NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCATGAATCCCATTGATTCTT 0.483000 87 311 0 0 0.000781405 0 0 SLC6A4 6532 broad.mit.edu 37 17 28536188 28536188 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:28536188C>T ENST00000401766.2 - 11 2034 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K SLC6A4_ENST00000261707.3_Missense_Mutation_p.E508K P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 508 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GCGACTGCTTCGATCAGCGCG 0.597000 23 61 0 0 0.00278032 0 0 ERCC6 2074 broad.mit.edu 37 10 50690901 50690901 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:50690901G>A ENST00000355832.5 - 10 2079 c.2001C>T c.(1999-2001)acC>acT p.T667T ERCC6_ENST00000542458.1_Silent_p.T37T NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 667 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCCGATGAGGGGTGCGAAACT 0.448000 Direct reversal of damage;Nucleotide excision repair (NER) 34 42 0 0 0.00283554 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586888 42586888 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:42586888C>T ENST00000289957.2 + 5 566 c.438C>T c.(436-438)ccC>ccT p.P146P NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 146 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGACCCCTCCCGCCAGCTACA 0.532000 18 17 0 0 0.00121646 0 0 LIN28A 79727 broad.mit.edu 37 1 26751877 26751877 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:26751877G>A ENST00000326279.6 + 3 426 c.312G>A c.(310-312)ctG>ctA p.L104L LIN28A_ENST00000254231.4_Silent_p.L104L NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 104 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 CCAAGGGTCTGGAATCCATCC 0.527000 40 145 0 0 0.00148497 0 0 CCKAR 886 broad.mit.edu 37 4 26483310 26483310 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:26483310G>A ENST00000295589.3 - 5 1431 c.1237C>T c.(1237-1239)Ctg>Ttg p.L413L NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 413 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AACCTGGACAGAGAGGCTCCT 0.657000 35 71 0 0 0.000692331 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586822 86586822 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:86586822G>A ENST00000376263.3 - 11 1151 c.928C>T c.(928-930)Cct>Tct p.P310S HNRNPK_ENST00000360384.5_Missense_Mutation_p.P310S|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P310S|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P310S|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P310S NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 310 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 GGTGGTGGAGGAAGAGGAAGA 0.512000 28 114 0 0 0.00058488 0 0 VPS13A 23230 broad.mit.edu 37 9 79853039 79853039 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:79853039C>T ENST00000360280.3 + 18 1977 c.1717C>T c.(1717-1719)Cca>Tca p.P573S VPS13A_ENST00000376634.4_Missense_Mutation_p.P573S|VPS13A_ENST00000376636.3_Missense_Mutation_p.P573S|VPS13A_ENST00000357409.5_Missense_Mutation_p.P573S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 573 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGAGATAAATCCATTAGATGA 0.318000 60 94 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179470335 179470335 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179470335C>T ENST00000589042.1 - 279 53911 c.53687G>A c.(53686-53688)gGa>gAa p.G17896E TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16255E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8956E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9023E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15328E|TTN_ENST00000460472.2_Missense_Mutation_p.G8831E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16255 Fibronectin type-III 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGATATATCCTTGGATGGG 0.448000 11 41 0 0 0.000673444 0 0 FMN2 56776 broad.mit.edu 37 1 240255747 240255747 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:240255747C>T ENST00000319653.9 + 1 568 c.338C>T c.(337-339)tCc>tTc p.S113F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 113 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 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) AGCGCTCACTCCCTGCTCACC 0.647000 5 23 0 0 0.000602214 0 0 CCNE2 9134 broad.mit.edu 37 8 95906253 95906253 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:95906253G>T ENST00000520509.1 - 3 361 c.109C>A c.(109-111)Cag>Aag p.Q37K CCNE2_ENST00000396133.3_Missense_Mutation_p.Q37K|CCNE2_ENST00000308108.4_Missense_Mutation_p.Q37K O96020 CCNE2_HUMAN cyclin E2 37 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TAAATCACCTGGGTAGTTTTC 0.468000 13 567 0.000308642 0.00113176 0.000308642 1 0 SORL1 6653 broad.mit.edu 37 11 121391410 121391410 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:121391410G>A ENST00000260197.7 + 9 1385 c.1256G>A c.(1255-1257)gGa>gAa p.G419E SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 419 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity 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) CGAGTGGAAGGATTGCAAGGA 0.393000 16 17 0 0 0.000566183 0 0 DAG1 1605 broad.mit.edu 37 3 49570616 49570616 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49570616C>T ENST00000545947.1 + 6 3394 c.2672C>T c.(2671-2673)cCc>cTc p.P891L DAG1_ENST00000538711.1_Missense_Mutation_p.P891L|DAG1_ENST00000539901.1_Missense_Mutation_p.P891L|DAG1_ENST00000541308.1_Missense_Mutation_p.P891L|DAG1_ENST00000515359.2_Missense_Mutation_p.P891L|DAG1_ENST00000308775.2_Missense_Mutation_p.P891L NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 891 Pro-rich.|Required for binding DMD and UTRN.|Required for interaction with CAV3. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCACCTCCTCCCTATGTCCCA 0.652000 9 25 0 0 0.000442599 0 0 ANKLE1 126549 broad.mit.edu 37 19 17396343 17396343 + Missense_Mutation SNP C C T rs149727291 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:17396343C>T ENST00000394458.3 + 7 1756 c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W ANKLE1_ENST00000594072.1_Missense_Mutation_p.R457W|ANKLE1_ENST00000598347.1_Missense_Mutation_p.R468W|ANKLE1_ENST00000404085.1_Missense_Mutation_p.R490W|ANKLE1_ENST00000433424.2_3'UTR NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 494 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GACGAGGGCCCGGCCATATGT 0.617000 39 112 0 0 0.00128727 0 0 MUC16 94025 broad.mit.edu 37 19 9067341 9067341 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9067341G>A ENST00000397910.4 - 3 20308 c.20105C>T c.(20104-20106)cCa>cTa p.P6702L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6704 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCAGGGCCTGGAATGGATGT 0.478000 37 154 0 0 0.00111076 0 0 TMEM214 54867 broad.mit.edu 37 2 27258879 27258879 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:27258879C>T ENST00000238788.9 + 5 741 c.679C>T c.(679-681)Ctg>Ttg p.L227L TMEM214_ENST00000404032.3_Silent_p.L182L NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 227 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCAGGCCATCCTGCAAGACAA 0.522000 16 41 0 0 0.00074312 0 0 HAPLN4 404037 broad.mit.edu 37 19 19368843 19368843 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:19368843G>A ENST00000291481.7 - 5 1055 c.992C>T c.(991-993)cCc>cTc p.P331L AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 331 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GTTCACGATGGGGTAGCGCGC 0.721000 3 3 0 0 6.4e-05 0 0 ABCC3 8714 broad.mit.edu 37 17 48745355 48745355 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48745355C>T ENST00000285238.8 + 13 1847 c.1767C>T c.(1765-1767)atC>atT p.I589I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 589 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCCAGTTAATCAGCAACCTGA 0.522000 16 30 0 0 0.000308642 0 0 TEP1 7011 broad.mit.edu 37 14 20871883 20871883 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20871883G>A ENST00000262715.5 - 6 1233 c.1194_splice c.e6+1 p.P398_splice TEP1_ENST00000556935.1_Intron NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 398 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTGACTGACTGGAGAGCGGGG 0.617000 23 52 0 0 0.000586117 0 0 ZNF627 199692 broad.mit.edu 37 19 11725377 11725377 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11725377C>T ENST00000361113.5 + 2 247 c.39C>T c.(37-39)ttC>ttT p.F13F ZNF627_ENST00000588174.1_Silent_p.F13F NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 CTGTGAACTTCACCCTGGAGG 0.532000 27 90 0 0 0.00127121 0 0 FABP6 2172 broad.mit.edu 37 5 159661850 159661850 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:159661850G>A ENST00000393980.4 + 6 560 c.414G>A c.(412-414)ggG>ggA p.G138G FABP6_ENST00000402432.3_Silent_p.G89G|FABP6_ENST00000393982.1_Silent_p.G138G NM_001130958.1 NP_001124430.1 P51161 FABP6_HUMAN fatty acid binding protein 6, ileal 89 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGGGCGGGAAGCTGGTGG 0.547000 9 29 0 0 0.000673444 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33958864 33958864 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:33958864C>T ENST00000361328.3 + 7 1675 c.1522C>T c.(1522-1524)Cgt>Tgt p.R508C NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 508 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGAAAAGCTTCGTACCTGTCA 0.562000 30 28 0 0 0.00178596 0 0 GLP2R 9340 broad.mit.edu 37 17 9757905 9757905 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:9757905C>T ENST00000262441.5 + 5 1111 c.598C>T c.(598-600)Ctc>Ttc p.L200F GLP2R_ENST00000574745.1_Missense_Mutation_p.L20F NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 200 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TCTCACCCTCCTCTTGTTTCT 0.498000 50 49 0 0 0.000781405 0 0 NLRP4 147945 broad.mit.edu 37 19 56370415 56370415 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56370415G>A ENST00000301295.6 + 3 2078 c.1656G>A c.(1654-1656)gcG>gcA p.A552A NLRP4_ENST00000587891.1_Silent_p.A477A|NLRP4_ENST00000346986.5_Silent_p.A552A NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 552 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATTCCTTGGCGATATTTTACT 0.473000 46 36 0 0 0.00222228 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755310 140755310 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140755310G>A ENST00000517434.1 + 1 1660 c.1660G>A c.(1660-1662)Gac>Aac p.D554N PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTGTGCTGGACCAGAATGA 0.637000 30 96 0 0 0.00283554 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447642 96447642 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96447642C>T ENST00000285979.6 + 2 483 c.284C>T c.(283-285)tCt>tTt p.S95F CYP2C18_ENST00000339022.5_Missense_Mutation_p.S95F NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GAGGAGTTTTCTGGAAGAGGA 0.458000 26 27 0 0 0.001512 0 0 EPN1 29924 broad.mit.edu 37 19 56203253 56203253 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56203253C>T ENST00000411543.2 + 7 1701 c.1154C>T c.(1153-1155)cCc>cTc p.P385L EPN1_ENST00000270460.6_Missense_Mutation_p.P299L|EPN1_ENST00000085079.7_Missense_Mutation_p.P274L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 299 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) TGGGGCGGCCCCCCTGTCCCT 0.756000 6 24 0 0 0.00116845 0 0 SLC4A8 9498 broad.mit.edu 37 12 51863538 51863538 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:51863538G>A ENST00000453097.2 + 12 1707 c.1490G>A c.(1489-1491)gGg>gAg p.G497E SLC4A8_ENST00000358657.3_Missense_Mutation_p.G524E|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Missense_Mutation_p.G444E|SLC4A8_ENST00000535225.2_Missense_Mutation_p.G444E|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G444E NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 497 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) ATCACCTTTGGGGGACTGCTT 0.502000 29 75 0 0 0.0024448 0 0 TTN 7273 broad.mit.edu 37 2 179600731 179600731 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179600731G>A ENST00000589042.1 - 50 14666 c.14442C>T c.(14440-14442)ttC>ttT p.F4814F TTN_ENST00000591111.1_Silent_p.F4497F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F3570F|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4497 Ig-like 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTGCAGATGAACTTGGCTG 0.458000 23 50 0 0 0.000586117 0 0 SLC22A25 387601 broad.mit.edu 37 11 62932071 62932071 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:62932071C>T ENST00000306494.6 - 8 1320 c.1321G>A c.(1321-1323)Ggt>Agt p.G441S SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 441 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GCTCCCACACCCAGGGTTGCC 0.478000 10 16 0 0 0.000673444 0 0 WDR78 79819 broad.mit.edu 37 1 67340619 67340619 + Splice_Site SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:67340619A>T ENST00000371026.3 - 5 700 c.643_splice c.e5-1 p.D215_splice WDR78_ENST00000371023.3_Splice_Site_p.D215_splice|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Splice_Site_p.D215_splice NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 215 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TAACTTGCAAATCTAAAATAC 0.294000 11 18 0 0 0.00244969 0 0 KATNAL2 83473 broad.mit.edu 37 18 44627357 44627357 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:44627357G>A ENST00000245121.5 + 15 1576 c.1382G>A c.(1381-1383)aGa>aAa p.R461K KATNAL2_ENST00000356157.7_Missense_Mutation_p.R533K NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 533 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 GACTGGCAAAGAGAGTTCGAG 0.468000 OREG0024959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 30 0 0 0.00188189 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558876 113558876 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:113558876G>A ENST00000284601.3 - 1 244 c.176C>T c.(175-177)tCa>tTa p.S59L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 59 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCTAGTACCTGAAGATGGGGT 0.403000 29 20 0 0 0.000878237 0 0 ALPK2 115701 broad.mit.edu 37 18 56205220 56205220 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:56205220G>A ENST00000361673.3 - 5 2412 c.2199C>T c.(2197-2199)ttC>ttT p.F733F RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 733 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GGTCTTCCCTGAAATTGTCAG 0.468000 79 135 0 0 0.000781405 0 0 ZNF423 23090 broad.mit.edu 37 16 49671905 49671905 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:49671905G>A ENST00000561648.1 - 4 1211 c.1158C>T c.(1156-1158)tcC>tcT p.S386S ZNF423_ENST00000262383.2_Silent_p.S386S|ZNF423_ENST00000567169.1_Silent_p.S269S|ZNF423_ENST00000562871.1_Silent_p.S326S|ZNF423_ENST00000563137.2_Silent_p.S326S|ZNF423_ENST00000535559.1_Silent_p.S269S|ZNF423_ENST00000562520.1_Silent_p.S326S NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 386 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCTTCAAGGTGGAGTCCGGGG 0.637000 8 32 0 0 0.000274275 0 0 FAT2 2196 broad.mit.edu 37 5 150945775 150945775 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150945775G>A ENST00000261800.5 - 1 2730 c.2718C>T c.(2716-2718)ttC>ttT p.F906F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 906 Cadherin 7. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTGACAGAGAAGAGCTGGT 0.552000 8 28 0 0 0.000274275 0 0 C8A 731 broad.mit.edu 37 1 57347252 57347252 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57347252G>A ENST00000361249.3 + 5 695 c.599G>A c.(598-600)gGa>gAa p.G200E NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 200 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CTCTACTATGGAGATGATGAG 0.483000 5 31 0 0 0.00116845 0 0 DSP 1832 broad.mit.edu 37 6 7580358 7580358 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:7580358C>T ENST00000379802.3 + 23 4276 c.3935C>T c.(3934-3936)tCc>tTc p.S1312F DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1312 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton 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) CACAAGCAGTCCCTGGAGGAG 0.532000 97 42 0 0 0.000781405 0 0 PKHD1 5314 broad.mit.edu 37 6 51944766 51944766 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51944766C>T ENST00000371117.3 - 5 597 c.322G>A c.(322-324)Gaa>Aaa p.E108K PKHD1_ENST00000340994.4_Missense_Mutation_p.E108K NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 108 IPT/TIG 1; atypical. 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 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) AAGTATGCTTCCAGGAAGTAC 0.468000 24 47 0 0 0.000720815 0 0 ATXN7 6314 broad.mit.edu 37 3 63973944 63973944 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:63973944C>T ENST00000398590.3 + 9 1858 c.1305C>T c.(1303-1305)tcC>tcT p.S435S ATXN7_ENST00000538065.1_Silent_p.S435S|ATXN7_ENST00000487717.1_Silent_p.S435S|ATXN7_ENST00000484332.1_Silent_p.S290S|ATXN7_ENST00000295900.6_Silent_p.S435S NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 435 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding p.S435S(2) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TGATTCCTTCCGAATCAAAGC 0.562000 51 106 0 0 0.000781405 0 0 DARC 2532 broad.mit.edu 37 1 159176102 159176102 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:159176102C>T ENST00000537147.1 + 3 1716 c.873C>T c.(871-873)gcC>gcT p.A291A DARC_ENST00000368122.2_Silent_p.A291A|DARC_ENST00000368121.2_Silent_p.A293A Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 291 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TGGCAGAAGCCCTGGCAATTT 0.597000 165 136 0 0 0.000781405 0 0 C16orf89 146556 broad.mit.edu 37 16 5110350 5110350 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:5110350C>T ENST00000315997.5 - 3 647 c.446G>A c.(445-447)gGg>gAg p.G149E C16orf89_ENST00000474471.3_Missense_Mutation_p.G149E|C16orf89_ENST00000422873.1_Missense_Mutation_p.G187E|C16orf89_ENST00000472572.3_Missense_Mutation_p.G149E|C16orf89_ENST00000350219.4_Missense_Mutation_p.G187E|ALG1_ENST00000588623.1_Intron NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 149 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 GTCCTGGGGCCCGAACGTGGG 0.602000 13 20 0 0 0.00185496 0 0 PNPLA7 375775 broad.mit.edu 37 9 140400467 140400467 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:140400467C>T ENST00000406427.1 - 13 1630 c.1294G>A c.(1294-1296)Gac>Aac p.D432N PNPLA7_ENST00000277531.4_Missense_Mutation_p.D407N|PNPLA7_ENST00000371457.1_Missense_Mutation_p.D13N NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 407 FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity p.D407N(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGGTGCTCGTCCGAGTGCAGG 0.652000 14 19 0 0 0.00074312 0 0 GCA 25801 broad.mit.edu 37 2 163204219 163204219 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163204219C>T ENST00000437150.2 + 2 320 c.159C>T c.(157-159)tcC>tcT p.S53S GCA_ENST00000233612.4_Silent_p.S34S|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Silent_p.S34S NM_012198.3 NP_036330.1 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 53 EF-hand 1. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 CTGGTGACTCCGTGTATACTT 0.423000 11 35 0 0 0.00136819 0 0 SLC6A14 11254 broad.mit.edu 37 X 115588792 115588792 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:115588792A>G ENST00000371900.4 + 13 1720 c.1632A>G c.(1630-1632)tcA>tcG p.S544S SLC6A14_ENST00000463626.1_Intron NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 544 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 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) TTATCTGGTCATTGGTGCAAT 0.368000 59 4 0 0 0.000781405 0 0 ITGB3BP 23421 broad.mit.edu 37 1 63955797 63955797 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:63955797G>T ENST00000371092.3 - 4 318 c.258C>A c.(256-258)ccC>ccA p.P86P ITGB3BP_ENST00000271002.10_Silent_p.P47P|ITGB3BP_ENST00000283568.8_Silent_p.P47P NM_001206739.1 NP_001193668.1 Q13352 CENPR_HUMAN integrin beta 3 binding protein (beta3-endonexin) 47 apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 CAGAACTTGTGGGAGAAGCAA 0.338000 5 60 0.000602214 0.00220518 0.000602214 1 0 BRSK1 84446 broad.mit.edu 37 19 55816264 55816264 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55816264C>T ENST00000309383.1 + 14 1970 c.1693C>T c.(1693-1695)Cgc>Tgc p.R565C BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Missense_Mutation_p.R260C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R581C NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 565 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GGGCTCCCCTCGCTTTCACCG 0.647000 8 41 0 0 0.000442599 0 0 DNAJC25 548645 broad.mit.edu 37 9 114411979 114411979 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:114411979C>T ENST00000313525.3 + 3 792 c.736C>T c.(736-738)Ctg>Ttg p.L246L DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron NM_001015882.2 NP_001015882.2 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 246 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 TGATCTTCTCCTGTTTCAAAT 0.343000 17 54 0 0 0.000422831 0 0 BRDT 676 broad.mit.edu 37 1 92441903 92441903 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:92441903G>A ENST00000370389.2 + 5 1231 c.307G>A c.(307-309)Gaa>Aaa p.E103K BRDT_ENST00000399546.2_Missense_Mutation_p.E176K|BRDT_ENST00000362005.3_Missense_Mutation_p.E176K|BRDT_ENST00000402388.1_Missense_Mutation_p.E176K|BRDT_ENST00000394530.3_Missense_Mutation_p.E130K NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 176 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.E176*(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TAAGCAGCAAGAAATTCCTTC 0.413000 21 41 0 0 0.00188189 0 0 KCNK5 8645 broad.mit.edu 37 6 39158950 39158950 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:39158950C>T ENST00000359534.3 - 5 1554 c.1216G>A c.(1216-1218)Gac>Aac p.D406N NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 406 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TCCTGGGCGTCCCATGGCTCG 0.627000 16 41 0 0 0.00074312 0 0 CNGB3 54714 broad.mit.edu 37 8 87738832 87738832 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:87738832G>A ENST00000320005.5 - 3 312 c.265C>T c.(265-267)Caa>Taa p.Q89* RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 89 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GCTGCATTTTGAGGGTCAGGG 0.413000 58 166 0 0 0.000781405 0 0 GCSAML 148823 broad.mit.edu 37 1 247712456 247712456 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:247712456G>A ENST00000366490.3 + 4 483 c.325G>A c.(325-327)Gaa>Aaa p.E109K GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron germinal center-associated, signaling and motility-like CAAGTGGAGTGAAACTCAGGA 0.512000 36 26 0 0 0.00111076 0 0 SHANK2 22941 broad.mit.edu 37 11 70506017 70506017 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:70506017G>A ENST00000338508.4 - 23 1979 c.1980C>T c.(1978-1980)ttC>ttT p.F660F SHANK2_ENST00000409530.1_Silent_p.F70F|SHANK2_ENST00000357171.3_Silent_p.F71F|SHANK2_ENST00000423696.2_Silent_p.F280F|SHANK2_ENST00000409161.1_Silent_p.F70F|SHANK2_ENST00000449833.2_Silent_p.F71F|SHANK2_ENST00000449116.2_Silent_p.F71F Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 280 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GTAGGGCTGGGAAAGCCGGTG 0.552000 18 15 0 0 0.000958276 0 0 SYT1 6857 broad.mit.edu 37 12 79693175 79693175 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:79693175G>A ENST00000261205.4 + 8 1311 c.654G>A c.(652-654)tcG>tcA p.S218S SYT1_ENST00000393240.3_Silent_p.S218S|SYT1_ENST00000552744.1_Silent_p.S218S|SYT1_ENST00000457153.2_Silent_p.S215S NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 218 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TACCATACTCGGAATTGGGTG 0.348000 20 45 0 0 0.00278032 0 0 IGHM 3507 broad.mit.edu 37 14 106320691 106320691 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106320691G>A ENST00000390559.2 - 0 1118 ACTTCTCCGGGGACAAGGGCT 0.647000 6 23 0 0 0.00116845 0 0 OR52E2 119678 broad.mit.edu 37 11 5080082 5080082 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5080082G>A ENST00000321522.2 - 1 775 c.776C>T c.(775-777)tCc>tTc p.S259F NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTCATAAAGGAAAAGAGGGC 0.473000 24 21 0 0 0.00047179 0 0 TLN1 7094 broad.mit.edu 37 9 35719223 35719223 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35719223A>G ENST00000314888.9 - 16 2097 c.1744T>C c.(1744-1746)Tcc>Ccc p.S582P TLN1_ENST00000540444.1_Missense_Mutation_p.S582P NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 582 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTCAGGTTGGAGGAGATTGTG 0.607000 18 11 0 0 0.00152264 0 0 GABRG3 2567 broad.mit.edu 37 15 27271920 27271920 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:27271920C>G ENST00000333743.6 + 3 476 c.222C>G c.(220-222)gaC>gaG p.D74E GABRG3_ENST00000555083.1_Missense_Mutation_p.D74E NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 74 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCGTAATTGACGTTGACATTT 0.393000 9 32 0 0 0.000442599 0 0 SCAND3 114821 broad.mit.edu 37 6 28540556 28540556 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28540556C>T ENST00000452236.2 - 4 3727 c.3110G>A c.(3109-3111)aGa>aAa p.R1037K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1037 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 agagaataatcttgaattcaa 0.303000 11 18 0 0 0.000978159 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840728 1840728 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:1840728G>A ENST00000331238.5 - 2 406 c.388C>T c.(388-390)Ctc>Ttc p.L130F NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 130 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 TAGAGGTAGAGGGCGTGAAGC 0.652000 18 32 0 0 0.000958276 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746589 77746589 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:77746589G>A ENST00000409088.3 - 3 820 c.406C>T c.(406-408)Cgc>Tgc p.R136C LRRTM4_ENST00000409282.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R136C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R136C NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 136 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TCCAGATTGCGGAGATTGGGA 0.383000 9 35 0 0 0.000978159 0 0 KCNK16 83795 broad.mit.edu 37 6 39284208 39284208 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:39284208G>A ENST00000373229.5 - 5 685 c.672C>T c.(670-672)ccC>ccT p.P224P KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000437525.2_Silent_p.P224P NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 224 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 AATGCTTGCTGGGGTCTGTGC 0.617000 4 13 0 0 0.00024832 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248820 140248820 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140248820C>T ENST00000398640.2 + 1 132 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGCA 0.652000 40 70 0 0 0.00195071 0 0 KIAA2026 158358 broad.mit.edu 37 9 5924691 5924691 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:5924691G>A ENST00000399933.3 - 7 2652 c.2653C>T c.(2653-2655)Ctg>Ttg p.L885L KIAA2026_ENST00000381461.2_Silent_p.L855L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 885 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGGATATCCAGAGGTTCTGTT 0.368000 34 7 0 0 0.000814825 0 0 LRTM1 57408 broad.mit.edu 37 3 54958920 54958920 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:54958920G>A ENST00000273286.5 - 2 492 c.330C>T c.(328-330)ctC>ctT p.L110L LRTM1_ENST00000493075.1_Silent_p.L34L|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 110 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CCAGGGAAAGGAGTGAATTCT 0.468000 39 13 0 0 0.00148497 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333557 37333557 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:37333557C>T ENST00000262825.5 + 14 1942 c.1725C>T c.(1723-1725)ccC>ccT p.P575P CSF2RB_ENST00000403662.3_Silent_p.P569P|CSF2RB_ENST00000406230.1_Silent_p.P575P|CSF2RB_ENST00000536485.1_Silent_p.P516P NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 569 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CCCCCAGCCCCCAGCCAGGCC 0.642000 17 52 0 0 0.00229938 0 0 DLG2 1740 broad.mit.edu 37 11 83344302 83344302 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:83344302G>A ENST00000398309.2 - 14 2047 c.1577C>T c.(1576-1578)tCc>tTc p.S526F DLG2_ENST00000537455.1_Missense_Mutation_p.S280F|DLG2_ENST00000531015.1_Missense_Mutation_p.S493F|DLG2_ENST00000426717.2_Missense_Mutation_p.S8F|DLG2_ENST00000398304.1_Missense_Mutation_p.S8F|DLG2_ENST00000524982.1_Missense_Mutation_p.S526F|DLG2_ENST00000404783.3_Missense_Mutation_p.S8F|DLG2_ENST00000376106.3_Missense_Mutation_p.S8F|DLG2_ENST00000530800.1_Missense_Mutation_p.S35F|DLG2_ENST00000543673.1_Missense_Mutation_p.S631F|DLG2_ENST00000418306.2_Missense_Mutation_p.S423F|DLG2_ENST00000532653.1_Missense_Mutation_p.S526F|DLG2_ENST00000280241.8_Missense_Mutation_p.S565F|DLG2_ENST00000376104.2_Missense_Mutation_p.S631F|DLG2_ENST00000330014.6_Missense_Mutation_p.S465F NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 526 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCCGGACCCGGAGCTCATGCT 0.473000 7 13 0 0 0.000442599 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136320464 136320464 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:136320464C>T ENST00000371929.3 + 25 3751 c.3307C>T c.(3307-3309)Cag>Tag p.Q1103* ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.Q1072*|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.Q1103*|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1103 TSP type-1 8. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCTCGGACCCCAGGCCCAGGC 0.667000 41 148 0 0 0.00285205 0 0 PTPRH 5794 broad.mit.edu 37 19 55708578 55708578 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55708578C>T ENST00000376350.3 - 9 1919 c.1897G>A c.(1897-1899)Gag>Aag p.E633K PTPRH_ENST00000263434.5_Missense_Mutation_p.E455K|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 633 Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TCCAGGGCCTCCACTTTGTAC 0.587000 19 63 0 0 0.000958276 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073307 74073307 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:74073307C>T ENST00000370367.3 + 3 431 c.378C>T c.(376-378)gtC>gtT p.V126V NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CCCAGGATGTCGCCACTCAGA 0.617000 17 16 0 0 0.00074312 0 0 ADNP2 22850 broad.mit.edu 37 18 77895177 77895177 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:77895177C>T ENST00000262198.4 + 4 2336 c.1881C>T c.(1879-1881)ccC>ccT p.P627P NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 627 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TGCCGGTTCCCCCTGGAGGCC 0.617000 12 48 0 0 0.00136819 0 0 GTF2E1 2960 broad.mit.edu 37 3 120495420 120495420 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:120495420C>T ENST00000283875.5 + 4 894 c.801C>T c.(799-801)gcC>gcT p.A267A NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 267 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) TTCATCGAGCCTCACTGGAAG 0.453000 15 45 0 0 0.000308642 0 0 ATP13A1 57130 broad.mit.edu 37 19 19757947 19757947 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:19757947G>A ENST00000357324.6 - 22 3122 c.3096C>T c.(3094-3096)tcC>tcT p.S1032S ATP13A1_ENST00000291503.5_Silent_p.S914S NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 1032 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CCTTGGAACGGGAGATGAAGA 0.612000 14 62 0 0 0.000308642 0 0 CAPN6 827 broad.mit.edu 37 X 110494210 110494210 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:110494210C>T ENST00000324068.1 - 8 1260 c.1093G>A c.(1093-1095)Gat>Aat p.D365N CAPN6_ENST00000541758.1_Missense_Mutation_p.D110N NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 365 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 ATCAGGGGATCATCATCCACA 0.473000 86 92 0 0 0.000781405 0 0 KRT6A 3853 broad.mit.edu 37 12 52881884 52881884 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52881884C>T ENST00000330722.6 - 8 1496 c.1428G>A c.(1426-1428)ctG>ctA p.L476L NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 476 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCGCCATTCAGCCTGTGGA 0.582000 17 35 0 0 0.00188189 0 0 CACNA1S 779 broad.mit.edu 37 1 201043666 201043666 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201043666C>T ENST00000362061.3 - 14 2257 c.2031G>A c.(2029-2031)aaG>aaA p.K677K CACNA1S_ENST00000367338.3_Silent_p.K677K NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 677 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTCCTCAGCCTTGGCCTTCT 0.572000 8 39 0 0 0.000157383 0 0 MAP3K11 4296 broad.mit.edu 37 11 65367011 65367011 + Missense_Mutation SNP G G A rs113014372 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:65367011G>A ENST00000309100.3 - 9 2545 c.2060C>T c.(2059-2061)cCg>cTg p.P687L MAP3K11_ENST00000530153.1_Missense_Mutation_p.P430L|MAP3K11_ENST00000532507.1_Missense_Mutation_p.P103L|MAP3K11_ENST00000534432.1_5'UTR NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 687 Pro-rich. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CGGCTCGGTCGGGCAGGGCGC 0.736000 23 19 0 0 0.000878237 0 0 ABCA13 154664 broad.mit.edu 37 7 48314904 48314904 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48314904G>A ENST00000435803.1 + 17 5665 c.5641G>A c.(5641-5643)Gaa>Aaa p.E1881K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1881 transport integral to membrane ATP binding|ATPase activity p.E1826Q(1)|p.E1881Q(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTCCCGAATGGAAATAACTAG 0.403000 11 94 0 0 0.000978159 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221000 140221000 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140221000C>T ENST00000531613.1 + 1 94 c.94C>T c.(94-96)Cac>Tac p.H32Y PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.H32Y|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCCAGCTCCACTACTCCGT 0.642000 18 43 0 0 0.000566183 0 0 BPIFB3 359710 broad.mit.edu 37 20 31660574 31660574 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31660574C>T ENST00000375494.3 + 14 1376 c.1376C>T c.(1375-1377)tCc>tTc p.S459F NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 459 innate immune response cytoplasm|extracellular region lipid binding|protein binding ATCAATTTTTCCAATTCAGTT 0.463000 19 69 0 0 0.00047179 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74636998 74636998 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:74636998C>T ENST00000541184.1 - 9 1341 c.864G>A c.(862-864)atG>atA p.M288I ZDHHC15_ENST00000373367.3_Missense_Mutation_p.M297I|ZDHHC15_ENST00000373361.3_3'UTR NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 297 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 TCATAGACCTCATAGGGAAGG 0.443000 40 35 0 0 0.00148497 0 0 GABRA6 2559 broad.mit.edu 37 5 161113235 161113235 + Splice_Site SNP G G A rs140035570 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:161113235G>A ENST00000523217.1 + 2 280 c.e2-1 GABRA6_ENST00000274545.5_Splice_Site|GABRA6_ENST00000522269.1_Splice_Site NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTACACACAGGCTAGAAAAT 0.448000 TCGA Ovarian(5;0.080) 16 29 0 0 0.000566183 0 0 HEATR2 54919 broad.mit.edu 37 7 813754 813754 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:813754G>A ENST00000297440.6 + 10 2021 c.2001G>A c.(1999-2001)ggG>ggA p.G667G HEATR2_ENST00000313147.5_Silent_p.G667G|HEATR2_ENST00000403952.3_Silent_p.G92G NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 667 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GGCATGCGGGGAGGACAGCCG 0.667000 43 61 0 0 0.000680045 0 0 DSE 29940 broad.mit.edu 37 6 116757959 116757959 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:116757959C>T ENST00000331677.3 + 7 2772 c.2328C>T c.(2326-2328)cgC>cgT p.R776R DSE_ENST00000359564.2_Silent_p.R776R|DSE_ENST00000452085.3_Silent_p.R776R|DSE_ENST00000537543.1_Silent_p.R795R Q9UL01 DSE_HUMAN dermatan sulfate epimerase 776 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity p.R776R(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) CTGCTGAACGCCTGCTGAGAT 0.463000 5 23 0 0 0.000602214 0 0 DPPA4 55211 broad.mit.edu 37 3 109050814 109050814 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:109050814G>A ENST00000335658.6 - 3 297 c.243C>T c.(241-243)atC>atT p.I81I DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 81 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GTAATGGAGGGATTGGTATCT 0.478000 31 69 0 0 0.00283554 0 0 MACF1 23499 broad.mit.edu 37 1 39549961 39549961 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:39549961G>A ENST00000567887.1 + 1 228 c.71G>A c.(70-72)cGa>cAa p.R24Q MACF1_ENST00000545844.1_Missense_Mutation_p.R24Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R24Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R24Q|MACF1_ENST00000602421.1_Missense_Mutation_p.R24Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R24Q|MACF1_ENST00000484793.1_Missense_Mutation_p.R24Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R24Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 24 Actin-binding. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CGGAGTGAGCGATCTTACAGG 0.627000 20 73 0 0 0.00229938 0 0 COL17A1 1308 broad.mit.edu 37 10 105800155 105800155 + Silent SNP G G A rs139467442 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105800155G>A ENST00000353479.5 - 40 3005 c.2715C>T c.(2713-2715)tcC>tcT p.S905S COL17A1_ENST00000369733.3_Silent_p.S905S NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 905 Triple-helical region. S -> F (in Ref. 1; AAA35605 and 2; AAB51499). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTGGGGGGCCGGAGAGGAAGG 0.532000 40 49 0 0 0.0025221 0 0 OR5L1 219437 broad.mit.edu 37 11 55579002 55579002 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55579002C>T ENST00000333973.2 + 1 149 c.60C>T c.(58-60)gtC>gtT p.V20V NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TATCAGATGTCCCTGAGTTGA 0.458000 53 54 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9085456 9085456 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9085456G>A ENST00000397910.4 - 1 6562 c.6359C>T c.(6358-6360)aCt>aTt p.T2120I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2120 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTGTTCAAAGTACTCGCGGC 0.488000 83 72 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13769624C>T ENST00000265104.4 - 57 9810 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 20 48 0 0 0.00278032 0 0 SCRN2 90507 broad.mit.edu 37 17 45915985 45915985 + Missense_Mutation SNP G G A rs142383711 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45915985G>A ENST00000407215.3 - 6 931 c.850C>T c.(850-852)Cgc>Tgc p.R284C SCRN2_ENST00000290216.9_Missense_Mutation_p.R284C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R292C Q96FV2 SCRN2_HUMAN secernin 2 284 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GCCGTGGTGCGAAAGCCTCCC 0.607000 17 44 0 0 0.00121646 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834414 101834414 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:101834414C>T ENST00000506729.1 - 1 306 c.135G>A c.(133-135)ggG>ggA p.G45G SLCO6A1_ENST00000379807.3_Silent_p.G45G|SLCO6A1_ENST00000513675.1_Silent_p.G45G|SLCO6A1_ENST00000389019.3_Silent_p.G45G|SLCO6A1_ENST00000379810.1_Silent_p.G45G Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 45 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GGTGTTTTTTCCCGGGCTTCG 0.572000 72 137 0 0 0.000781405 0 0 DENND1B 163486 broad.mit.edu 37 1 197704718 197704718 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:197704718G>A ENST00000235453.4 - 3 327 c.50C>T c.(49-51)tCg>tTg p.S17L DENND1B_ENST00000400967.2_Missense_Mutation_p.S17L|DENND1B_ENST00000367396.3_Intron Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 0 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 GGTATTACTCGAAAATACAGG 0.433000 8 55 0 0 0.000442599 0 0 TNXB 7148 broad.mit.edu 37 6 32038147 32038147 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32038147C>T ENST00000375244.3 - 14 5236 c.5035G>A c.(5035-5037)Gag>Aag p.E1679K TNXB_ENST00000375247.2_Missense_Mutation_p.E1679K P22105 TENX_HUMAN tenascin XB 1761 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCCACAGCTCCCCAAGGCGG 0.582000 47 50 0 0 0.000781405 0 0 UNC45A 55898 broad.mit.edu 37 15 91491904 91491904 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:91491904C>T ENST00000394275.2 + 16 2548 c.1713C>T c.(1711-1713)ctC>ctT p.L571L UNC45A_ENST00000418476.2_Silent_p.L586L NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 586 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGTCAGTGCTCTTTGCGGTGG 0.597000 150 117 0 0 0.000781405 0 0 KMT2D 8085 broad.mit.edu 37 12 49432453 49432453 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49432453G>A ENST00000301067.7 - 34 8685 c.8686C>T c.(8686-8688)Cct>Tct p.P2896S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCTGACCAGGAAACGGAGTG 0.622000 10 16 0 0 0.000442599 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698552 96698552 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96698552T>C ENST00000260682.6 + 1 125 c.113T>C c.(112-114)gTg>gCg p.V38A CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 38 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CCTCTCCCAGTGATTGGAAAT 0.463000 26 27 0 0 0.000878237 0 0 TAGAP 117289 broad.mit.edu 37 6 159459245 159459245 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:159459245C>T ENST00000367066.3 - 9 1130 c.799G>A c.(799-801)Gaa>Aaa p.E267K RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E89K NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 267 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ATGAGGAATTCCACCAGTGTC 0.403000 26 29 0 0 0.000878237 0 0 RXFP1 59350 broad.mit.edu 37 4 159529150 159529150 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:159529150C>T ENST00000307765.5 + 6 742 c.491C>T c.(490-492)tCc>tTc p.S164F RXFP1_ENST00000470033.1_Missense_Mutation_p.S131F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S164F|RXFP1_ENST00000448688.2_Missense_Mutation_p.S83F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S83F|RXFP1_ENST00000423548.1_Missense_Mutation_p.S164F NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 164 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AAGATTACATCCATCTCCATC 0.353000 34 26 0 0 0.000814825 0 0 CLC 1178 broad.mit.edu 37 19 40228602 40228602 + Translation_Start_Site SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:40228602C>A ENST00000221804.4 - 0 66 NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) TTGTTGTCTCCTTCTGGGTGG 0.463000 37 158 1.76056e-25 6.52865e-25 0.00285205 1 0 NFATC4 4776 broad.mit.edu 37 14 24839499 24839499 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24839499C>T ENST00000413692.2 + 3 1228 c.1084C>T c.(1084-1086)Cca>Tca p.P362S NFATC4_ENST00000553879.1_Missense_Mutation_p.P229S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.P331S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P331S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P299S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P299S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P312S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P312S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P312S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P362S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P229S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P287S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P331S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P229S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P287S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P299S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P229S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P287S NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 299 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TGAGCCACCTCCACCACCCCC 0.672000 16 7 0 0 0.000422831 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784509 15784509 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15784509G>A ENST00000550308.1 + 2 550 c.170G>A c.(169-171)cGg>cAg p.R57Q CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57Q NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 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) CCCCCAAAACGGAACTGGTTT 0.587000 31 77 0 0 0.00178596 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493401 65493401 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:65493401C>T ENST00000321870.1 + 1 588 c.54C>T c.(52-54)ttC>ttT p.F18F RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 ACGACCTCTTCCTGCACAAGA 0.771000 9 6 0 0 0.000673444 0 0 ASAP2 8853 broad.mit.edu 37 2 9474912 9474912 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:9474912C>T ENST00000281419.3 + 8 1072 c.732C>T c.(730-732)tcC>tcT p.S244S ASAP2_ENST00000315273.4_Silent_p.S244S NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 244 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TCAAACCTTCCATTGAAACGC 0.393000 26 80 0 0 0.00209593 0 0 PRDM10 56980 broad.mit.edu 37 11 129814708 129814708 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129814708G>A ENST00000358825.5 - 6 951 c.720C>T c.(718-720)ctC>ctT p.L240L PRDM10_ENST00000423662.2_Silent_p.L154L|PRDM10_ENST00000360871.3_Silent_p.L240L|PRDM10_ENST00000528746.1_Silent_p.L214L|PRDM10_ENST00000304538.6_Silent_p.L154L|PRDM10_ENST00000526082.1_Silent_p.L154L NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 240 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGCCCCTGACGAGAGGCCCCT 0.562000 23 40 0 0 0.00047179 0 0 OSBP2 23762 broad.mit.edu 37 22 31286918 31286918 + Silent SNP G G C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31286918G>C ENST00000332585.6 + 8 1931 c.1827G>C c.(1825-1827)ctG>ctC p.L609L OSBP2_ENST00000437268.2_Silent_p.L351L|OSBP2_ENST00000401475.1_Silent_p.L242L|OSBP2_ENST00000407373.1_Silent_p.L436L|OSBP2_ENST00000446658.2_Silent_p.L608L|OSBP2_ENST00000403222.3_Silent_p.L443L|OSBP2_ENST00000535268.1_Silent_p.L153L|OSBP2_ENST00000382310.3_Silent_p.L560L NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 609 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CCTTCGAGCTGGACCGCCTCG 0.657000 OREG0026467 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 120 0 0 0.000673444 0 0 ZBP1 81030 broad.mit.edu 37 20 56189956 56189956 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:56189956C>T ENST00000340462.4 - 3 700 c.420G>A c.(418-420)acG>acA p.T140T ZBP1_ENST00000343535.4_Silent_p.T163T|ZBP1_ENST00000395822.3_Silent_p.T88T|ZBP1_ENST00000541799.1_Silent_p.T163T|ZBP1_ENST00000371173.3_Silent_p.T163T Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 163 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GGCGGTAAATCGTCCATGCTT 0.552000 111 46 0 0 0.000781405 0 0 SLC5A11 115584 broad.mit.edu 37 16 24909297 24909297 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:24909297G>A ENST00000449109.2 + 9 759 c.475G>A c.(475-477)Gat>Aat p.D159N SLC5A11_ENST00000347898.3_Silent_p.V291V|SLC5A11_ENST00000567758.1_Silent_p.V256V|SLC5A11_ENST00000424767.2_Silent_p.V256V|SLC5A11_ENST00000565769.1_Silent_p.V227V|SLC5A11_ENST00000568579.1_Silent_p.V221V|SLC5A11_ENST00000539472.1_Silent_p.V227V|SLC5A11_ENST00000545376.1_Silent_p.V221V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D159N NM_001258414.1 NP_001245343.1 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 336 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TTTTCCAGGTGATTGTCCAGC 0.502000 50 132 0 0 0.000781405 0 0 FBRS 64319 broad.mit.edu 37 16 30680789 30680789 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:30680789C>T ENST00000356166.6 + 18 3854 c.2766C>T c.(2764-2766)caC>caT p.H922H FBRS_ENST00000395073.2_Silent_p.H314H|FBRS_ENST00000287468.5_Silent_p.H402H|FBRS_ENST00000568722.1_Silent_p.H314H Q9HAH7 FBRS_HUMAN fibrosin 402 ovary(1) 1 Colorectal(24;0.103) AACCTGCTCACCCCTTGCTCT 0.687000 35 119 0 0 0.00128727 0 0 GPR35 2859 broad.mit.edu 37 2 241569594 241569594 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:241569594C>T ENST00000319838.5 + 6 1167 c.225C>T c.(223-225)ttC>ttT p.F75F GPR35_ENST00000438013.2_Silent_p.F106F|GPR35_ENST00000430267.1_Silent_p.F75F|GPR35_ENST00000407714.1_Silent_p.F75F|GPR35_ENST00000403859.1_Silent_p.F75F NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 75 integral to plasma membrane G-protein coupled receptor activity p.F75F(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CCTTGCCCTTCGTGCTGCACT 0.627000 32 41 0 0 0.000692331 0 0 XPO6 23214 broad.mit.edu 37 16 28167786 28167786 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:28167786G>A ENST00000304658.5 - 7 1206 c.706C>T c.(706-708)Ccc>Tcc p.P236S XPO6_ENST00000565698.1_Missense_Mutation_p.P222S NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 236 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TCAAGGATGGGAATTGGCTGA 0.473000 29 62 0 0 0.0024448 0 0 SYNJ1 8867 broad.mit.edu 37 21 34053931 34053931 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:34053931C>T ENST00000382499.2 - 11 1344 c.1345G>A c.(1345-1347)Ggt>Agt p.G449S SYNJ1_ENST00000322229.7_Missense_Mutation_p.G410S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G449S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G410S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.G410S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 410 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TCAGCTAAACCAAGAGCTTCC 0.343000 15 52 0 0 0.000308642 0 0 COL3A1 1281 broad.mit.edu 37 2 189859048 189859048 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:189859048G>A ENST00000304636.3 + 18 1453 c.1283G>A c.(1282-1284)cGa>cAa p.R428Q COL3A1_ENST00000317840.5_Missense_Mutation_p.R428Q NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 428 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCTGGACTGCGAGGTGGTGCA 0.488000 19 67 0 0 0.00121646 0 0 TYK2 7297 broad.mit.edu 37 19 10467345 10467345 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:10467345G>A ENST00000525621.1 - 18 2997 c.2516C>T c.(2515-2517)cCa>cTa p.P839L TYK2_ENST00000524462.1_Missense_Mutation_p.P654L|TYK2_ENST00000264818.6_Missense_Mutation_p.P839L NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 839 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GGCCAGCTGTGGGCAGGAGGG 0.637000 4 15 0 0 0.000602214 0 0 APOB 338 broad.mit.edu 37 2 21233907 21233907 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21233907C>T ENST00000233242.1 - 26 5960 c.5833G>A c.(5833-5835)Gat>Aat p.D1945N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1945 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 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) CCTTTGTAATCATGAGAGAAA 0.468000 134 363 0 0 0.000781405 0 0 IGSF21 84966 broad.mit.edu 37 1 18692034 18692034 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:18692034C>T ENST00000251296.1 + 6 1241 c.858C>T c.(856-858)ttC>ttT p.F286F NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 286 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCACCTACTTCCTGCGCCACA 0.622000 55 87 0 0 0.000781405 0 0 XKR7 343702 broad.mit.edu 37 20 30585110 30585110 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:30585110G>A ENST00000217299.3 + 3 1764 c.1590G>A c.(1588-1590)aaG>aaA p.K530K NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 530 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGCCTCGCAAGAAGTACCCGG 0.637000 84 29 0 0 0.000781405 0 0 LAMA1 284217 broad.mit.edu 37 18 7009357 7009357 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:7009357C>T ENST00000389658.3 - 27 3975 c.3882G>A c.(3880-3882)tgG>tgA p.W1294* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1294 Laminin IV type A 2. 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 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) TAAAATATTTCCAAAAATTCT 0.343000 23 59 0 0 0.00188189 0 0 SOHLH1 402381 broad.mit.edu 37 9 138590849 138590849 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:138590849C>T ENST00000298466.5 - 2 249 c.189G>A c.(187-189)agG>agA p.R63R SOHLH1_ENST00000425225.1_Silent_p.R63R NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 63 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) ACCTGCGCTCCCTCTCGCTGA 0.697000 32 43 0 0 0.00058488 0 0 PGK2 5232 broad.mit.edu 37 6 49753833 49753833 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:49753833C>T ENST00000304801.3 - 1 1220 c.1068G>A c.(1066-1068)atG>atA p.M356I NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 356 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CAATTTCATCCATGAGGGCTT 0.463000 18 25 0 0 0.00121646 0 0 DSC2 1824 broad.mit.edu 37 18 28671000 28671000 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28671000G>A ENST00000280904.6 - 4 908 c.465C>T c.(463-465)ttC>ttT p.F155F DSC2_ENST00000251081.6_Silent_p.F155F NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 155 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCTGTTGAAGGAAAAGTGGAA 0.398000 10 26 0 0 0.000442599 0 0 FANCI 55215 broad.mit.edu 37 15 89811691 89811691 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89811691C>T ENST00000310775.7 + 10 903 c.817C>T c.(817-819)Cta>Tta p.L273L FANCI_ENST00000300027.8_Silent_p.L273L NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 273 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CACCATTATTCTACACATTGT 0.408000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 27 83 0 0 0.001512 0 0 LONP2 83752 broad.mit.edu 37 16 48290548 48290548 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:48290548C>T ENST00000285737.4 + 3 589 c.496C>T c.(496-498)Cct>Tct p.P166S LONP2_ENST00000535754.1_Intron NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 166 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TATGTCTGTCCCTGCAGTTGC 0.348000 24 76 0 0 0.00047179 0 0 SLIT3 6586 broad.mit.edu 37 5 168620526 168620526 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:168620526G>A ENST00000519560.1 - 4 789 c.370C>T c.(370-372)Ctt>Ttt p.L124F SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Missense_Mutation_p.L124F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L124F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 124 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 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) AATTCTGGAAGGACTTGCAGC 0.473000 49 38 0 0 0.000781405 0 0 CNDP1 84735 broad.mit.edu 37 18 72228244 72228244 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:72228244G>A ENST00000582365.1 + 3 394 c.328G>A c.(328-330)Gag>Aag p.E110K CNDP1_ENST00000358821.3_Missense_Mutation_p.E153K|CNDP1_ENST00000585136.1_Intron Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 153 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TGTGCTGACGGAGGTAGACGG 0.622000 19 64 0 0 0.00152264 0 0 MMRN1 22915 broad.mit.edu 37 4 90849068 90849068 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:90849068G>A ENST00000394980.1 + 6 1397 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K MMRN1_ENST00000508372.1_Missense_Mutation_p.E102K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E360K|MMRN1_ENST00000394981.1_Missense_Mutation_p.E326K Q13201 MMRN1_HUMAN multimerin 1 360 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTCCTCCCTAGAAGGAAAAGT 0.338000 26 64 0 0 0.000878237 0 0 LILRB5 10990 broad.mit.edu 37 19 54759232 54759232 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54759232C>T ENST00000450632.1 - 5 919 c.842G>A c.(841-843)gGg>gAg p.G281E LILRB5_ENST00000345866.6_Missense_Mutation_p.G190E|LILRB5_ENST00000449561.2_Missense_Mutation_p.G290E|LILRB5_ENST00000316219.5_Missense_Mutation_p.G290E O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 290 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTACTGGCCCCCGTGGGAGCG 0.682000 29 40 0 0 0.00127121 0 0 RGPD4 285190 broad.mit.edu 37 2 108477284 108477284 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:108477284G>A ENST00000408999.3 + 13 1898 c.1821G>A c.(1819-1821)tgG>tgA p.W607* RGPD4_ENST00000354986.4_Nonsense_Mutation_p.W607* NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 607 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TTCATTATTGGAAGAAAGTTT 0.323000 74 81 0 0 0.000781405 0 0 PAPPA 5069 broad.mit.edu 37 9 118949875 118949875 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:118949875C>T ENST00000328252.3 + 2 1227 c.858C>T c.(856-858)ctC>ctT p.L286L NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 286 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGCTCCTCCTCCAGGAGAACT 0.572000 14 71 0 0 0.00185496 0 0 TKTL2 84076 broad.mit.edu 37 4 164394221 164394221 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:164394221C>T ENST00000280605.3 - 1 826 c.666G>A c.(664-666)gtG>gtA p.V222V NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 222 cytoplasm metal ion binding|transketolase activity 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) ACAAGGCCTCCACATCATGGC 0.483000 35 68 0 0 0.00111076 0 0 FAM161A 84140 broad.mit.edu 37 2 62067001 62067001 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:62067001G>A ENST00000404929.1 - 3 1149 c.1138C>T c.(1138-1140)Cga>Tga p.R380* FAM161A_ENST00000405894.3_Nonsense_Mutation_p.R380* NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 380 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTAAGGTTTCGATAGAGCTCT 0.433000 44 48 0 0 0.00285205 0 0 CBLC 23624 broad.mit.edu 37 19 45281500 45281500 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:45281500G>T ENST00000270279.3 + 1 375 c.312G>T c.(310-312)agG>agT p.R104S CBLC_ENST00000341505.4_Missense_Mutation_p.R104S NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 104 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) GGGGCCGAAGGAGTGCCAACG 0.672000 M AML 64 118 2.6465e-34 9.82439e-34 0.000781405 1 0 OR2M5 127059 broad.mit.edu 37 1 248309366 248309366 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248309366G>A ENST00000366476.1 + 1 917 c.917G>A c.(916-918)gGa>gAa p.G306E NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AAAGTGTTAGGAAAGGGCAAG 0.438000 6 36 0 0 0.00116845 0 0 ACMSD 130013 broad.mit.edu 37 2 135621140 135621140 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:135621140A>T ENST00000356140.5 + 5 561 c.425A>T c.(424-426)cAa>cTa p.Q142L ACMSD_ENST00000392928.1_Missense_Mutation_p.Q84L|ACMSD_ENST00000283054.4_Missense_Mutation_p.Q84L|AC016725.4_ENST00000392929.2_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 142 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) CCCGGGGTCCAAATTGGCACC 0.637000 19 26 0 0 0.00188189 0 0 NT5DC3 51559 broad.mit.edu 37 12 104171831 104171831 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:104171831G>T ENST00000392876.3 - 14 1463 c.1423C>A c.(1423-1425)Cag>Aag p.Q475K NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 475 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 CTTCCAAACTGGGCATTGAAG 0.453000 13 37 0.00244969 0.00893603 0.00244969 1 0 ATXN7 6314 broad.mit.edu 37 3 63973943 63973943 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:63973943C>T ENST00000398590.3 + 9 1857 c.1304C>T c.(1303-1305)tCc>tTc p.S435F ATXN7_ENST00000538065.1_Missense_Mutation_p.S435F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S435F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S290F|ATXN7_ENST00000295900.6_Missense_Mutation_p.S435F NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 435 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) GTGATTCCTTCCGAATCAAAG 0.562000 50 110 0 0 0.000781405 0 0 DAPK1 1612 broad.mit.edu 37 9 90219967 90219967 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:90219967G>A ENST00000469640.2 + 3 536 c.161G>A c.(160-162)cGg>cAg p.R54Q DAPK1_ENST00000472284.1_Missense_Mutation_p.R54Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.R54Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54Q P53355 DAPK1_HUMAN death-associated protein kinase 1 54 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCCAGCCGGCGGGGTGTGAGC 0.557000 Chronic Lymphocytic Leukemia, Familial Clustering of 34 27 0 0 0.0024448 0 0 ATP7B 540 broad.mit.edu 37 13 52548313 52548313 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:52548313G>A ENST00000242839.4 - 2 1199 c.1043C>T c.(1042-1044)tCc>tTc p.S348F ATP7B_ENST00000448424.2_Missense_Mutation_p.S348F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S348F|ATP7B_ENST00000542656.1_Missense_Mutation_p.S316F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S348F|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.S348F|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 348 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TCTCGGTGGGGAGCCAGGGGA 0.532000 Wilson disease 31 33 0 0 0.0024448 0 0 ABCC11 85320 broad.mit.edu 37 16 48250034 48250034 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:48250034G>A ENST00000394747.1 - 6 1291 c.942C>T c.(940-942)ttC>ttT p.F314F ABCC11_ENST00000537808.1_Silent_p.F314F|ABCC11_ENST00000394748.1_Silent_p.F314F|ABCC11_ENST00000356608.2_Silent_p.F314F|ABCC11_ENST00000353782.5_Silent_p.F314F NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 314 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCGCCAGTGGGAAAACCAGGA 0.473000 24 83 0 0 0.000586117 0 0 TEK 7010 broad.mit.edu 37 9 27172711 27172711 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:27172711C>T ENST00000380036.4 + 5 1168 c.726C>T c.(724-726)tgC>tgT p.C242C TEK_ENST00000519097.1_Silent_p.C138C|TEK_ENST00000406359.4_Silent_p.C242C NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 242 EGF-like 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AATGCATTTGCCCTCCTGGGT 0.443000 12 10 0 0 0.00136819 0 0 FBXO36 130888 broad.mit.edu 37 2 230861576 230861576 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:230861576C>T ENST00000373652.3 + 4 643 c.222C>T c.(220-222)atC>atT p.I74I FBXO36_ENST00000409992.1_Silent_p.I85I|FBXO36_ENST00000283946.3_Silent_p.I105I Q8NEA4 FBX36_HUMAN F-box protein 36 105 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCTGACTATCATTTCTTATC 0.348000 99 96 0 0 0.000781405 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717390 13717390 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:13717390C>T ENST00000279593.3 - 13 2991 c.2782G>A c.(2782-2784)Gag>Aag p.E928K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 928 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACGGATGACTCCCGTCGGATG 0.572000 102 58 0 0 0.000781405 0 0 PACSIN3 29763 broad.mit.edu 37 11 47203992 47203992 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:47203992G>A ENST00000539589.1 - 4 515 c.173C>T c.(172-174)gCt>gTt p.A58V PACSIN3_ENST00000298838.6_Missense_Mutation_p.A58V NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 58 FCH. endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 GGCCCAGTCAGCCAACTGCTG 0.682000 15 19 0 0 0.000308642 0 0 CD5 921 broad.mit.edu 37 11 60889213 60889213 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:60889213G>A ENST00000347785.3 + 6 1102 c.936G>A c.(934-936)tgG>tgA p.W312* NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 312 SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CGCTGCGGTGGGAGGAGGTGT 0.657000 11 17 0 0 0.000978159 0 0 MECP2 4204 broad.mit.edu 37 X 153296707 153296707 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153296707G>A ENST00000303391.6 - 4 821 c.572C>T c.(571-573)cCc>cTc p.P191L MECP2_ENST00000407218.1_Missense_Mutation_p.P155S|MECP2_ENST00000453960.2_Missense_Mutation_p.P203L NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 191 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCCTTTGGGGCGTCCCCG 0.612000 86 2 0 0 0.000781405 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370431 35370431 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35370431T>G ENST00000373347.1 - 3 822 c.554A>C c.(553-555)cAc>cCc p.H185P DLGAP3_ENST00000235180.4_Missense_Mutation_p.H185P O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 185 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CTCCAGAGAGTGGGACTTGGC 0.667000 12 51 0 0 0.00244969 0 0 CPA3 1359 broad.mit.edu 37 3 148586804 148586804 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:148586804G>A ENST00000296046.3 + 3 299 c.247G>A c.(247-249)Gat>Aat p.D83N RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 83 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GTCTGCCTTGGATCAAAATAA 0.413000 17 30 0 0 0.00152264 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453565 84453565 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:84453565G>A ENST00000377084.2 - 1 2963 c.2078C>T c.(2077-2079)tCg>tTg p.S693L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 693 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTCTGAGAGCGAGTGAGAGCC 0.587000 11 22 0 0 0.000978159 0 0 LDLRAD1 388633 broad.mit.edu 37 1 54474787 54474787 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:54474787G>A ENST00000371360.1 - 6 503 c.486C>T c.(484-486)ccC>ccT p.P162P LDLRAD1_ENST00000545928.1_Silent_p.P119P|LDLRAD1_ENST00000420619.1_Silent_p.P123P|LDLRAD1_ENST00000371362.3_Silent_p.P73P NM_001010978.2 NP_001010978.2 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain containing 1 162 LDL-receptor class A 3; atypical. integral to membrane receptor activity large_intestine(3)|prostate(1)|skin(3) 7 CAGGGCCGCAGGGTGGGCACA 0.582000 38 136 0 0 0.00170553 0 0 SLC38A7 55238 broad.mit.edu 37 16 58701364 58701364 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:58701364G>A ENST00000564100.1 - 8 1778 c.911C>T c.(910-912)tCc>tTc p.S304F SLC38A7_ENST00000564010.1_Silent_p.V349V|SLC38A7_ENST00000570101.1_Silent_p.V438V|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000219320.4_Silent_p.V438V Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 0 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 TGACCAAGAGGACTCCGTAGC 0.532000 11 39 0 0 0.00136819 0 0 PBX1 5087 broad.mit.edu 37 1 164761828 164761828 + Silent SNP G G A rs147201088 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:164761828G>A ENST00000420696.2 + 3 551 c.363G>A c.(361-363)gaG>gaA p.E121E PBX1_ENST00000367897.1_Silent_p.E121E|PBX1_ENST00000560641.1_Silent_p.E16E|PBX1_ENST00000559240.1_Silent_p.E121E|PBX1_ENST00000540246.1_Silent_p.E16E|PBX1_ENST00000401534.1_Silent_p.E121E|PBX1_ENST00000540236.1_Silent_p.E121E NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 121 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 CGGGGCCTGAGAAGGGCGGAG 0.627000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 54 32 0 0 0.000781405 0 0 XIRP2 129446 broad.mit.edu 37 2 168074748 168074748 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:168074748A>T ENST00000409195.1 + 5 885 c.796A>T c.(796-798)Att>Ttt p.I266F XIRP2_ENST00000409756.2_Missense_Mutation_p.I266F|XIRP2_ENST00000409605.1_Missense_Mutation_p.I44F|XIRP2_ENST00000420519.1_Missense_Mutation_p.I299F|XIRP2_ENST00000409273.1_Missense_Mutation_p.I44F|XIRP2_ENST00000295237.9_Missense_Mutation_p.I266F|XIRP2_ENST00000409728.1_Missense_Mutation_p.I299F|XIRP2_ENST00000409043.1_Missense_Mutation_p.I266F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 91 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGAGGACGAAATTACTTCTTC 0.398000 27 40 0 0 0.00127121 0 0 SPTA1 6708 broad.mit.edu 37 1 158648241 158648241 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158648241G>A ENST00000368148.3 - 6 942 c.762C>T c.(760-762)ctC>ctT p.L254L SPTA1_ENST00000368147.3_Silent_p.L254L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 254 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTGTCTCTGGAGAGCCAAAC 0.428000 24 17 0 0 0.000878237 0 0 DDC 1644 broad.mit.edu 37 7 50607688 50607688 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:50607688G>A ENST00000444124.2 - 3 440 c.240C>T c.(238-240)ttC>ttT p.F80F DDC_ENST00000357936.5_Silent_p.F80F|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.F80F|DDC_ENST00000431062.1_Silent_p.F80F|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 80 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TGGCAGTGGGGAAGTAGGCGA 0.642000 9 25 0 0 0.000442599 0 0 BHLHE40 8553 broad.mit.edu 37 3 5024875 5024875 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:5024875G>A ENST00000256495.3 + 5 1340 c.737G>A c.(736-738)gGa>gAa p.G246E NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 246 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 AGTGGCTATGGAGGAGAATCG 0.582000 25 48 0 0 0.000878237 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173591 207173591 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207173591T>G ENST00000374423.3 + 5 4725 c.4339T>G c.(4339-4341)Tgt>Ggt p.C1447G NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1447 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AAATAAGAACTGTGAAGTCTG 0.358000 4 30 0 0 0.00024832 0 0 DNAH9 1770 broad.mit.edu 37 17 11872753 11872753 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:11872753G>A ENST00000262442.3 + 69 13438 c.13370G>A c.(13369-13371)gGa>gAa p.G4457E DNAH9_ENST00000396001.2_Missense_Mutation_p.G769E|DNAH9_ENST00000454412.2_Missense_Mutation_p.G4381E|RP11-1096G20.5_ENST00000580270.1_RNA NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4457 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTCAGCGGGGACCCACCTAC 0.517000 33 0 0 0 0.0024448 0 0 CRYZ 1429 broad.mit.edu 37 1 75188903 75188903 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75188903G>A ENST00000417775.1 - 4 667 c.163C>T c.(163-165)Cgc>Tgc p.R55C CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.R55C|CRYZ_ENST00000340866.5_Missense_Mutation_p.R55C NM_001130042.1 NP_001123514.1 Q08257 QOR_HUMAN crystallin, zeta (quinone reductase) 55 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) GTACCAGAGCGAATGTATGTC 0.423000 48 49 0 0 0.000781405 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745570 135745570 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:135745570G>A ENST00000375845.3 - 7 902 c.872C>T c.(871-873)tCt>tTt p.S291F MAP3K19_ENST00000358371.4_Missense_Mutation_p.S178F|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S308F NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CTTAGGAAAAGAGCACATGTT 0.443000 25 108 0 0 0.00106085 0 0 KRT33B 3884 broad.mit.edu 37 17 39521250 39521250 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39521250C>T ENST00000251646.3 - 6 927 c.876_splice c.e6-1 p.R293_splice NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 293 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity p.R293Q(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) CAGAGAGTATCGCTGTGGTGG 0.552000 14 25 0 0 0.00185496 0 0 ZNF318 24149 broad.mit.edu 37 6 43325230 43325230 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:43325230G>A ENST00000361428.2 - 3 899 c.822C>T c.(820-822)ccC>ccT p.P274P ZNF318_ENST00000318149.3_Silent_p.P274P NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 274 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CATCATAACGGGGTCTTTTGG 0.488000 35 27 0 0 0.000814825 0 0 GPR128 84873 broad.mit.edu 37 3 100378648 100378648 + Missense_Mutation SNP C C T rs144717099 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:100378648C>T ENST00000273352.3 + 14 2208 c.1940C>T c.(1939-1941)tCg>tTg p.S647L GPR128_ENST00000475887.1_Missense_Mutation_p.S352L|GPR128_ENST00000481506.1_3'UTR NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 647 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 ATTACAATCTCGATCAAAGTG 0.438000 12 39 0 0 0.00136819 0 0 TTN 7273 broad.mit.edu 37 2 179647604 179647604 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179647604C>T ENST00000589042.1 - 18 3253 c.3029G>A c.(3028-3030)aGc>aAc p.S1010N TTN_ENST00000360870.5_Missense_Mutation_p.S1010N|TTN_ENST00000591111.1_Missense_Mutation_p.S1010N|TTN_ENST00000359218.5_Missense_Mutation_p.S964N|TTN_ENST00000342175.6_Missense_Mutation_p.S964N|TTN_ENST00000342992.6_Missense_Mutation_p.S1010N|TTN_ENST00000460472.2_Missense_Mutation_p.S964N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1010 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAATCGCCCGCTGTCTTCCGC 0.498000 22 25 0 0 0.00188189 0 0 OR8J1 219477 broad.mit.edu 37 11 56128572 56128572 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56128572C>T ENST00000303039.3 + 1 882 c.850C>T c.(850-852)Cct>Tct p.P284S NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GTTGGTAATTCCTATGCTGAA 0.393000 14 22 0 0 0.00244969 0 0 NOD2 64127 broad.mit.edu 37 16 50745455 50745455 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:50745455C>T ENST00000300589.2 + 4 1738 c.1633C>T c.(1633-1635)Ccc>Tcc p.P545S NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 545 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GGGCCGCCTCCCCACCCTCCT 0.622000 22 15 0 0 0.000586117 0 0 DAXX 1616 broad.mit.edu 37 6 33289089 33289089 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:33289089G>A ENST00000374542.5 - 3 667 c.463C>T c.(463-465)Ccc>Tcc p.P155S DAXX_ENST00000266000.6_Missense_Mutation_p.P155S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.P80S NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 155 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TTCCCAGAGGGCTCATTGGAG 0.557000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 25 37 0 0 0.000720815 0 0 CSF1 1435 broad.mit.edu 37 1 110465890 110465890 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:110465890C>T ENST00000329608.6 + 6 1038 c.647C>T c.(646-648)gCc>gTc p.A216V CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.A216V|CSF1_ENST00000369802.3_Missense_Mutation_p.A216V|CSF1_ENST00000344188.5_Missense_Mutation_p.A216V NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 216 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCTCCATGGCCCCTGTGGCT 0.642000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 43 0 0 0.000781405 0 0 CCR3 1232 broad.mit.edu 37 3 46307076 46307076 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46307076C>T ENST00000357422.2 + 4 970 c.427C>T c.(427-429)Cga>Tga p.R143* CCR3_ENST00000395942.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000545097.1_Nonsense_Mutation_p.R164*|CCR3_ENST00000395940.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000541018.1_Nonsense_Mutation_p.R143* P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 143 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GTTTGCCCTTCGAGCCCGGAC 0.498000 22 63 0 0 0.00229938 0 0 KIF26B 55083 broad.mit.edu 37 1 245530267 245530267 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:245530267C>T ENST00000407071.2 + 3 1037 c.597C>T c.(595-597)atC>atT p.I199I KIF26B_ENST00000479506.1_3'UTR NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 199 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGAGGCCATCCAGATGGTGC 0.632000 14 27 0 0 0.000308642 0 0 CUZD1 50624 broad.mit.edu 37 10 124593228 124593228 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124593228G>A ENST00000368904.1 - 10 2560 c.1611C>T c.(1609-1611)ccC>ccT p.P537P CUZD1_ENST00000392790.1_Silent_p.P537P|CUZD1_ENST00000545804.1_Silent_p.P537P Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 537 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TCAGACGAATGGGTCCTATGA 0.418000 31 118 0 0 0.00209593 0 0 COL27A1 85301 broad.mit.edu 37 9 116931714 116931714 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:116931714C>T ENST00000356083.3 + 3 2270 c.1879C>T c.(1879-1881)Ccg>Tcg p.P627S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 627 Collagen-like 1.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent 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 GATGGGGCCTCCGGGACCCAA 0.632000 17 66 0 0 0.00152264 0 0 POTEG 404785 broad.mit.edu 37 14 19553578 19553578 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:19553578G>A ENST00000409832.3 + 1 214 c.162G>A c.(160-162)atG>atA p.M54I NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 54 p.M54I(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 ATTCTGCTATGAAGACACTCA 0.617000 27 577 0 0 0.00128727 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088079 92088079 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:92088079C>T ENST00000256343.3 - 19 2289 c.2133G>A c.(2131-2133)tgG>tgA p.W711* NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 711 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATATATTTTCCATGTTCGTC 0.368000 23 85 0 0 0.00278032 0 0 MYH3 4621 broad.mit.edu 37 17 10538243 10538243 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10538243C>T ENST00000583535.1 - 31 4357 c.4270G>A c.(4270-4272)Gga>Aga p.G1424R MYH3_ENST00000226209.7_Missense_Mutation_p.G1424R NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1424 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCCACCTCTCCTTGCAGCCTC 0.512000 45 57 0 0 0.000781405 0 0 CDK18 5129 broad.mit.edu 37 1 205499810 205499810 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:205499810G>A ENST00000360066.2 + 15 1668 c.1367G>A c.(1366-1368)cGa>cAa p.R456Q CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Missense_Mutation_p.R456Q|CDK18_ENST00000506784.1_Missense_Mutation_p.R486Q NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 454 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CCAGGCTACCGAGGCTTGGCC 0.632000 7 34 0 0 0.000442599 0 0 CNGA2 1260 broad.mit.edu 37 X 150912180 150912180 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:150912180G>A ENST00000329903.4 + 6 1238 c.1205G>A c.(1204-1206)aGc>aAc p.S402N NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 402 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CGAAAGGTCAGCAAGGGGATG 0.498000 29 34 0 0 0.00178596 0 0 SCN10A 6336 broad.mit.edu 37 3 38753783 38753783 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38753783G>A ENST00000449082.2 - 22 3957 c.3958C>T c.(3958-3960)Ctt>Ttt p.L1320F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1320 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AAAGGTACAAGGGAAAACTCT 0.448000 29 100 0 0 0.0024448 0 0 GLRA1 2741 broad.mit.edu 37 5 151304061 151304061 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:151304061A>G ENST00000274576.4 - 1 342 c.50T>C c.(49-51)tTc>tCc p.F17S GLRA1_ENST00000545569.1_5'UTR|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.F17S NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 17 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATACCTGAAGAATACAATGGT 0.458000 19 46 0 0 0.00047179 0 0 ARAP2 116984 broad.mit.edu 37 4 36069745 36069745 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:36069745G>A ENST00000303965.4 - 33 5388 c.4899C>T c.(4897-4899)ttC>ttT p.F1633F NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1633 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CCAGGCAGTTGAAACTCCGAT 0.517000 24 51 0 0 0.00047179 0 0 ASAP3 55616 broad.mit.edu 37 1 23768717 23768717 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:23768717G>A ENST00000336689.3 - 7 677 c.633C>T c.(631-633)ttC>ttT p.F211F ASAP3_ENST00000437606.2_Silent_p.F202F NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 211 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 GGCTCTGAAGGAAGTCAGGAC 0.557000 4 27 0 0 0.000602214 0 0 ZNF699 374879 broad.mit.edu 37 19 9406533 9406533 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9406533G>A ENST00000591998.1 - 6 1775 c.1547C>T c.(1546-1548)tCc>tTc p.S516F ZNF699_ENST00000308650.3_Missense_Mutation_p.S516F Q32M78 ZN699_HUMAN zinc finger protein 699 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGTAAGGTGGGAGGAACTAAT 0.443000 10 33 0 0 0.000978159 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939698 12939698 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12939698T>G ENST00000235349.5 - 4 1174 c.1104A>C c.(1102-1104)caA>caC p.Q368H NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 368 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGCGTTGACTTGGGAGTCTA 0.507000 131 510 0 0 0.000781405 0 0 IK 3550 broad.mit.edu 37 5 140041216 140041216 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140041216G>A ENST00000417647.2 + 17 1564 c.1425G>A c.(1423-1425)aaG>aaA p.K475K NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 475 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAACAAGAAGGGGCCCTTAG 0.493000 11 6 0 0 0.00185496 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701948 96701948 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96701948G>A ENST00000260682.6 + 3 343 c.e3-1 CYP2C9_ENST00000461906.1_Splice_Site NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CTTCCTGTTAGGAATTGTTTT 0.532000 14 12 0 0 0.00185496 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301041 110301041 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:110301041G>A ENST00000369805.3 - 8 846 c.617C>T c.(616-618)tCc>tTc p.S206F EPS8L3_ENST00000361852.4_Missense_Mutation_p.S205F|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S205F|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 205 Pro-rich. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GGGCCTTGGGGATGGTGGGAG 0.597000 39 199 0 0 0.00195071 0 0 CAPN5 726 broad.mit.edu 37 11 76823639 76823639 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:76823639T>A ENST00000278559.3 + 4 491 c.302T>A c.(301-303)aTc>aAc p.I101N CAPN5_ENST00000456580.2_Missense_Mutation_p.I141N|CAPN5_ENST00000529629.1_Missense_Mutation_p.I101N|CAPN5_ENST00000531028.1_Intron NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 101 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 ACCCAGGTCATCCCAGACTGG 0.612000 7 16 0 0 0.000673444 0 0 NSUN2 54888 broad.mit.edu 37 5 6625745 6625745 + Missense_Mutation SNP G G C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:6625745G>C ENST00000264670.6 - 4 708 c.397C>G c.(397-399)Cga>Gga p.R133G NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.R98G|NSUN2_ENST00000505264.1_5'UTR NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 133 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AAGATTTTTCGACTTAAATTT 0.343000 21 16 0 0 0.00047179 0 0 CD163L1 283316 broad.mit.edu 37 12 7531888 7531888 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7531888G>A ENST00000313599.3 - 9 2114 c.2057C>T c.(2056-2058)tCg>tTg p.S686L CD163L1_ENST00000416109.2_Missense_Mutation_p.S696L|CD163L1_ENST00000396630.1_Missense_Mutation_p.S686L Q9NR16 C163B_HUMAN CD163 molecule-like 1 686 extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.S686L(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 CTCCATATCCGATGCATCTGA 0.463000 12 10 0 0 0.00136819 0 0 MATN4 8785 broad.mit.edu 37 20 43929849 43929849 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43929849C>T ENST00000537548.1 - 6 1026 c.782G>A c.(781-783)aGc>aAc p.S261N MATN4_ENST00000372754.1_Missense_Mutation_p.S302N|MATN4_ENST00000342716.4_Missense_Mutation_p.S261N|MATN4_ENST00000372753.1_Missense_Mutation_p.S112N|MATN4_ENST00000360607.5_Missense_Mutation_p.S220N|MATN4_ENST00000372751.4_Missense_Mutation_p.S112N|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.S261N O95460 MATN4_HUMAN matrilin 4 302 EGF-like 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GTTCCCAAAGCTGCAGTAGTC 0.602000 OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 81 0 0 0.00128727 0 0 ACSM5 54988 broad.mit.edu 37 16 20442382 20442382 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20442382C>T ENST00000331849.4 + 9 1340 c.1193C>T c.(1192-1194)cCc>cTc p.P398L NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 398 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GCGTCCCCACCCTACGATGTG 0.567000 42 98 0 0 0.00285205 0 0 KIF12 113220 broad.mit.edu 37 9 116857321 116857321 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:116857321G>A ENST00000374118.3 - 8 924 c.687C>T c.(685-687)acC>acT p.T229T KIF12_ENST00000473174.1_5'UTR NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 362 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CCTGTGGTCGGGTGGTGACCC 0.637000 8 40 0 0 0.000274275 0 0 KCNH1 3756 broad.mit.edu 37 1 211192539 211192539 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:211192539G>A ENST00000367007.4 - 6 787 c.618C>T c.(616-618)ccC>ccT p.P206P KCNH1_ENST00000271751.4_Silent_p.P206P NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 206 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) TGATGTGAGGGGGAGTCTTTG 0.438000 69 49 0 0 0.000781405 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882168 228882168 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:228882168C>T ENST00000392056.3 - 7 3448 c.3402G>A c.(3400-3402)gtG>gtA p.V1134V SPHKAP_ENST00000344657.5_Silent_p.V1134V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1134 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCATCTGGTTCACCATGAACC 0.527000 10 55 0 0 0.00136819 0 0 STAB1 23166 broad.mit.edu 37 3 52557298 52557298 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:52557298G>A ENST00000321725.6 + 64 7157 c.7081G>A c.(7081-7083)Gat>Aat p.D2361N NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2361 FAS1 7. 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 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) CTTCCTGGATGATGAGCTCAC 0.552000 26 88 0 0 0.000720815 0 0 ZNF236 7776 broad.mit.edu 37 18 74563788 74563788 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:74563788C>T ENST00000253159.8 + 3 448 c.250C>T c.(250-252)Cat>Tat p.H84Y ZNF236_ENST00000320610.9_Missense_Mutation_p.H86Y|ZNF236_ENST00000583095.1_3'UTR NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 84 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCTGACACTTCATAAATGCAC 0.428000 19 41 0 0 0.00152264 0 0 CYP2B6 1555 broad.mit.edu 37 19 41515295 41515295 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41515295G>A ENST00000324071.4 + 5 824 c.817G>A c.(817-819)Gaa>Aaa p.E273K CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 273 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GCTCCACATGGAAAAAGTGGG 0.567000 20 93 0 0 0.00188189 0 0 ALOX5 240 broad.mit.edu 37 10 45920485 45920485 + Missense_Mutation SNP C C G rs146711717 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:45920485C>G ENST00000374391.2 + 6 792 c.739C>G c.(739-741)Cgg>Ggg p.R247G ALOX5_ENST00000542434.1_Missense_Mutation_p.R247G NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 247 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGTGTTGATCCGGCGCTGCAC 0.602000 20 69 0 0 0.00188189 0 0 OR10K1 391109 broad.mit.edu 37 1 158435611 158435611 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158435611C>T ENST00000289451.2 + 1 340 c.260C>T c.(259-261)tCc>tTc p.S87F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GACCTGCTGTCCCAGAAGAAG 0.488000 27 139 0 0 0.00127121 0 0 ANO4 121601 broad.mit.edu 37 12 101295595 101295595 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:101295595G>A ENST00000392979.3 + 2 393 c.32G>A c.(31-33)gGa>gAa p.G11E ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.G177E|ANO4_ENST00000392977.3_Missense_Mutation_p.G11E NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 11 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATCACTAATGGAAAAACCAAA 0.493000 HNSCC(74;0.22) 60 26 0 0 0.000781405 0 0 GLI2 2736 broad.mit.edu 37 2 121740331 121740331 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:121740331C>T ENST00000452319.1 + 11 1618 c.1558C>T c.(1558-1560)Ctg>Ttg p.L520L GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.L192L|GLI2_ENST00000361492.4_Silent_p.L520L P10070 GLI2_HUMAN GLI family zinc finger 2 520 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCTGGAGAACCTGAAGACACA 0.632000 16 37 0 0 0.00074312 0 0 ASB1 51665 broad.mit.edu 37 2 239342322 239342322 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:239342322G>A ENST00000264607.4 + 2 424 c.177G>A c.(175-177)gaG>gaA p.E59E ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Silent_p.E59E NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 59 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) TATTGCAAGAGGAGAGCTACC 0.602000 13 80 0 0 0.000422831 0 0 UNC5B 219699 broad.mit.edu 37 10 73055663 73055663 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:73055663C>T ENST00000335350.6 + 14 2687 c.2271C>T c.(2269-2271)tcC>tcT p.S757S UNC5B_ENST00000373192.4_Silent_p.S746S NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 757 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TGCGCCTCTCCCTCCATGACC 0.607000 13 19 0 0 0.00074312 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321591 79321591 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:79321591G>A ENST00000428286.1 - 8 5722 c.4522C>T c.(4522-4524)Ccc>Tcc p.P1508S PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1867S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1867 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ACTCCCCAGGGACTGGCATTT 0.463000 21 10 0 0 0.00152264 0 0 FSHB 2488 broad.mit.edu 37 11 30255173 30255173 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:30255173G>A ENST00000417547.1 + 3 255 c.216G>A c.(214-216)aaG>aaA p.K72K FSHB_ENST00000533718.1_Silent_p.K72K|FSHB_ENST00000254122.3_Silent_p.K72K NM_001018080.1 NP_001018090.1 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 72 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) GTACCTTCAAGGAACTGGTAT 0.483000 19 14 0 0 0.00152264 0 0 EEF2K 29904 broad.mit.edu 37 16 22255972 22255972 + Nonsense_Mutation SNP C C T rs137985480 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:22255972C>T ENST00000263026.5 + 3 742 c.268C>T c.(268-270)Cag>Tag p.Q90* NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 90 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GCACGCAATCCAGAAGGCCAA 0.597000 20 20 0 0 0.00229938 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604046 26604046 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:26604046C>T ENST00000577198.1 - 0 915 NR_028334.1 TCTCCAGCTTCCAGTTCTTGG 0.542000 69 44 0 0 0.000781405 0 0 RASGRF1 5923 broad.mit.edu 37 15 79324609 79324609 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:79324609G>A ENST00000419573.3 - 7 1282 c.1008C>T c.(1006-1008)ttC>ttT p.F336F RASGRF1_ENST00000558480.2_Silent_p.F336F|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 336 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGTTGCGGACGAACTCTTGGT 0.587000 18 28 0 0 0.00188189 0 0 CXorf22 170063 broad.mit.edu 37 X 35985768 35985768 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:35985768A>C ENST00000297866.5 + 10 1699 c.1633A>C c.(1633-1635)Aag>Cag p.K545Q NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 545 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TCCCACGGGAAAGTTTGTGGT 0.363000 15 0 0 0 0.000422831 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642939 1642939 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1642939C>T ENST00000399682.1 - 1 429 c.385G>A c.(385-387)Gga>Aga p.G129R NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 129 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCACAGCCTCCTTTGGAGCCC 0.652000 30 33 0 0 0.000953801 0 0 MYOM3 127294 broad.mit.edu 37 1 24408641 24408641 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:24408641G>A ENST00000330966.7 - 18 2295 c.2133C>T c.(2131-2133)aaC>aaT p.N711N MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.N710N|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.N710N|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 710 Fibronectin type-III 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCTTCCCGCAGTTCAGGAGGG 0.592000 8 26 0 0 0.000274275 0 0 HCFC1 3054 broad.mit.edu 37 X 153223333 153223333 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153223333G>A ENST00000310441.7 - 12 2999 c.2033C>T c.(2032-2034)tCc>tTc p.S678F HCFC1_ENST00000354233.3_Missense_Mutation_p.S609F|HCFC1_ENST00000369984.4_Missense_Mutation_p.S678F NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 678 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCCAGATTGGAAATCTAAAA 0.557000 50 2 0 0 0.000781405 0 0 NR5A2 2494 broad.mit.edu 37 1 200143153 200143153 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200143153C>T ENST00000367362.3 + 8 1687 c.1441C>T c.(1441-1443)Ctg>Ttg p.L481L NR5A2_ENST00000544748.1_Silent_p.L409L|NR5A2_ENST00000236914.3_Silent_p.L435L NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 481 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 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) CAATGCCGCCCTGCTGGACTA 0.433000 7 21 0 0 0.00198382 0 0 ZNF12 7559 broad.mit.edu 37 7 6731743 6731743 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:6731743G>A ENST00000405858.1 - 5 1371 c.830C>T c.(829-831)tCc>tTc p.S277F ZNF12_ENST00000404360.1_Missense_Mutation_p.S203F|ZNF12_ENST00000342651.5_Missense_Mutation_p.S239F|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 277 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TTTACAGAAGGATTTCCCACA 0.408000 71 20 0 0 0.000781405 0 0 CELA2B 51032 broad.mit.edu 37 1 15808762 15808762 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:15808762C>T ENST00000375910.3 + 4 255 c.230C>T c.(229-231)tCc>tTc p.S77F CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 77 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 TCTCCCAGCTCCTCCGGGATC 0.577000 23 54 0 0 0.000586117 0 0 LRPPRC 10128 broad.mit.edu 37 2 44171034 44171034 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:44171034C>T ENST00000260665.7 - 23 2354 c.e23-1 NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTAATAGCATCTACAATGAAG 0.368000 75 223 0 0 0.000781405 0 0 GRWD1 83743 broad.mit.edu 37 19 48955988 48955988 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:48955988C>T ENST00000253237.5 + 7 1280 c.1047C>T c.(1045-1047)ttC>ttT p.F349F NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 349 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) TGGCCACCTTCAAGCAGCACG 0.647000 32 37 0 0 0.00128727 0 0 RIF1 55183 broad.mit.edu 37 2 152300066 152300066 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:152300066T>C ENST00000243326.4 + 17 2312 c.1829T>C c.(1828-1830)cTt>cCt p.L610P RIF1_ENST00000444746.2_Missense_Mutation_p.L610P|RIF1_ENST00000453091.2_Missense_Mutation_p.L610P|RIF1_ENST00000428287.2_Missense_Mutation_p.L610P|RIF1_ENST00000430328.2_Missense_Mutation_p.L610P Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 610 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding 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) TTGGAATCACTTGTAGGCTGT 0.303000 75 110 0 0 0.000781405 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39477044 39477044 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:39477044C>T ENST00000407997.3 + 3 635 c.278C>T c.(277-279)tCc>tTc p.S93F APOBEC3G_ENST00000452957.2_Missense_Mutation_p.S93F|APOBEC3G_ENST00000461827.1_3'UTR NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) TGGTACATATCCTGGAGCCCC 0.532000 16 146 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9048344 9048344 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9048344C>T ENST00000397910.4 - 5 33490 c.33287G>A c.(33286-33288)gGa>gAa p.G11096E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11098 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCACCACTCCTGATACCCC 0.507000 24 29 0 0 0.00278032 0 0 DNAH10 196385 broad.mit.edu 37 12 124333331 124333331 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124333331G>A ENST00000409039.3 + 33 5675 c.5650G>A c.(5650-5652)Gat>Aat p.D1884N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1884 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity 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) GGGCTGCTTTGATGAGTTTAA 0.498000 9 21 0 0 0.000274275 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217444 150217444 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150217444G>A ENST00000313543.4 + 2 539 c.382G>A c.(382-384)Gtc>Atc p.V128I NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 128 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGCACATGGTCATCTTGTT 0.512000 16 58 0 0 0.00121646 0 0 TPR 7175 broad.mit.edu 37 1 186294972 186294972 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186294972A>G ENST00000367478.3 - 42 6332 c.6036T>C c.(6034-6036)acT>acC p.T2012T NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 2012 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TACCTGGATCAGTCCCATCAC 0.363000 T NTRK1 papillary thyroid 34 27 0 0 0.00058488 0 0 TTN 7273 broad.mit.edu 37 2 179611642 179611642 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179611642C>T ENST00000360870.5 - 46 15707 c.15485G>A c.(15484-15486)tGg>tAg p.W5162* TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 7079 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCGGAACGCCATATTTCATA 0.388000 21 15 0 0 0.00121646 0 0 CCDC108 255101 broad.mit.edu 37 2 219887933 219887933 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:219887933C>T ENST00000341552.5 - 16 2899 c.2816G>A c.(2815-2817)aGa>aAa p.R939K CCDC108_ENST00000441968.1_Missense_Mutation_p.R939K|CCDC108_ENST00000453220.1_Missense_Mutation_p.R939K NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 939 MSP. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCACAAGTCTCTCGTTGGG 0.597000 11 44 0 0 0.000673444 0 0 ACE 1636 broad.mit.edu 37 17 61557763 61557763 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:61557763G>A ENST00000290866.4 + 5 745 c.721G>A c.(721-723)Gaa>Aaa p.E241K ACE_ENST00000428043.1_Missense_Mutation_p.E241K|ACE_ENST00000538928.1_Missense_Mutation_p.E241K|ACE_ENST00000584529.1_3'UTR NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 241 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGACGATCTGGAACACCTCTA 0.612000 58 19 0 0 0.000781405 0 0 ENTHD2 146705 broad.mit.edu 37 17 79202985 79202985 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:79202985T>G ENST00000374769.2 - 13 1546 c.1069A>C c.(1069-1071)Agc>Cgc p.S357R ENTHD2_ENST00000300714.3_Missense_Mutation_p.S441R|AC027601.1_ENST00000575922.1_RNA ENTH domain containing 2 CACCGCCTGCTTTCTGCCAGT 0.677000 5 24 0 0 0.00198382 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72054795 72054795 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:72054795C>T ENST00000555818.1 + 2 554 c.206C>T c.(205-207)cCc>cTc p.P69L SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P69L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P69L NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 69 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCTCAACCCCCGGAGTCCCA 0.507000 32 86 0 0 0.00209593 0 0 CILP 8483 broad.mit.edu 37 15 65490746 65490746 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:65490746G>A ENST00000261883.4 - 9 2044 c.1878C>T c.(1876-1878)ttC>ttT p.F626F NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 626 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GGGGATCCAGGAAGGTCACAC 0.522000 54 22 0 0 0.000781405 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014995 75014995 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:75014995G>A ENST00000379727.3 - 2 642 c.444C>T c.(442-444)gcC>gcT p.A148A CYP1A1_ENST00000395048.2_Silent_p.A148A|CYP1A1_ENST00000567032.1_Silent_p.A148A|CYP1A1_ENST00000395049.4_Silent_p.A148A|CYP1A1_ENST00000564596.1_Intron P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 148 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CTGGGTCAGAGGCAATGGAGA 0.592000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 68 41 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196837012 196837012 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196837012C>T ENST00000312428.6 - 16 2112 c.2012G>A c.(2011-2013)aGg>aAg p.R671K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 671 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATGATTTTCCTGTGTTCTTC 0.328000 15 90 0 0 0.000566183 0 0 ZNF253 56242 broad.mit.edu 37 19 20002848 20002848 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:20002848C>T ENST00000589717.1 + 4 884 c.792C>T c.(790-792)gcC>gcT p.A264A ZNF253_ENST00000355650.4_Silent_p.A188A NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 264 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTGGCAAAGCCTTCAACCGAT 0.413000 10 28 0 0 0.000442599 0 0 EPG5 57724 broad.mit.edu 37 18 43524016 43524016 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:43524016G>A ENST00000282041.5 - 8 1781 c.1747C>T c.(1747-1749)Ccc>Tcc p.P583S NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 583 autophagy 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 TCATGAAAGGGGAACTGTGCT 0.388000 12 89 0 0 0.00244969 0 0 NEIL3 55247 broad.mit.edu 37 4 178256880 178256880 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:178256880C>T ENST00000264596.3 + 3 435 c.317C>T c.(316-318)cCa>cTa p.P106L NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 106 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) ATGATTAATCCACTTGAGTAT 0.338000 Base excision repair (BER), DNA glycosylases 27 57 0 0 0.00106085 0 0 MUC16 94025 broad.mit.edu 37 19 9072482 9072482 + Silent SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9072482A>T ENST00000397910.4 - 3 15167 c.14964T>A c.(14962-14964)acT>acA p.T4988T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4990 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCATGGTAAAAGTATCCTGTG 0.468000 23 40 0 0 0.000720815 0 0 ROR2 4920 broad.mit.edu 37 9 94486368 94486368 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:94486368G>A ENST00000375708.3 - 9 2606 c.2408C>T c.(2407-2409)cCc>cTc p.P803L ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 803 Pro-rich. 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 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 GCCCTTCATGGGGATGAACTG 0.672000 48 36 0 0 0.000781405 0 0 DSC3 1825 broad.mit.edu 37 18 28602348 28602348 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28602348G>A ENST00000434452.1 - 7 1050 c.896C>T c.(895-897)cCc>cTc p.P299L DSC3_ENST00000360428.4_Missense_Mutation_p.P299L NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 299 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCCTGTGCTGGGATGCACAGA 0.493000 14 63 0 0 0.000308642 0 0 ATP2A3 489 broad.mit.edu 37 17 3856645 3856645 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:3856645G>A ENST00000309890.7 - 3 365 c.215C>T c.(214-216)tCc>tTc p.S72F ATP2A3_ENST00000359983.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S72F NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 72 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ACTTACAAAGGAGACAAGGGC 0.637000 18 31 0 0 0.00188189 0 0 ZNF391 346157 broad.mit.edu 37 6 27369044 27369044 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:27369044C>T ENST00000244576.4 + 3 1440 c.895C>T c.(895-897)Cac>Tac p.H299Y NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 TCAGAGAATCCACAGTGGAGA 0.483000 17 41 0 0 0.000958276 0 0 CD163L1 283316 broad.mit.edu 37 12 7559178 7559178 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7559178G>A ENST00000313599.3 - 5 1094 c.1037C>T c.(1036-1038)aCc>aTc p.T346I CD163L1_ENST00000416109.2_Missense_Mutation_p.T356I|CD163L1_ENST00000396630.1_Missense_Mutation_p.T346I Q9NR16 C163B_HUMAN CD163 molecule-like 1 346 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAAATTGACGGTTCCGGAATG 0.428000 9 40 0 0 0.000978159 0 0 MROH2B 133558 broad.mit.edu 37 5 41033178 41033178 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41033178A>T ENST00000399564.4 - 23 2776 c.2326T>A c.(2326-2328)Ttt>Att p.F776I MROH2B_ENST00000506092.2_Missense_Mutation_p.F331I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTGTAGGAAAACTGGAACCCC 0.453000 15 8 0 0 0.00121646 0 0 PRDM13 59336 broad.mit.edu 37 6 100056687 100056687 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:100056687G>A ENST00000369214.1 + 2 506 c.245G>A c.(244-246)cGg>cAg p.R82Q PRDM13_ENST00000369215.4_Missense_Mutation_p.R72Q NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 72 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GGGTTAATCCGGGCAGCCAGA 0.622000 9 13 0 0 0.000442599 0 0 DDB1 1642 broad.mit.edu 37 11 61070583 61070583 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:61070583G>A ENST00000301764.7 - 23 3274 c.2877C>T c.(2875-2877)atC>atT p.I959I DDB1_ENST00000450997.2_Silent_p.I270I|DDB1_ENST00000538470.1_Silent_p.I6I NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 959 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CATCATCCAAGATTTCCACAG 0.448000 Nucleotide excision repair (NER) 34 43 0 0 0.00128727 0 0 TTC13 79573 broad.mit.edu 37 1 231060654 231060654 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:231060654G>A ENST00000366661.4 - 14 1661 c.1654C>T c.(1654-1656)Cga>Tga p.R552* TTC13_ENST00000366662.4_Nonsense_Mutation_p.R499*|TTC13_ENST00000414259.1_Nonsense_Mutation_p.R499* NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 552 binding p.R552*(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CCATTCATTCGAACTTTCGAG 0.438000 44 151 0 0 0.000781405 0 0 RYR3 6263 broad.mit.edu 37 15 33916059 33916059 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:33916059C>T ENST00000389232.4 + 20 2479 c.2409C>T c.(2407-2409)ccC>ccT p.P803P RYR3_ENST00000415757.3_Silent_p.P803P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 803 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCTGCCTCCCTCTGGCTATG 0.423000 21 69 0 0 0.00278032 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028343 142028343 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142028343C>T ENST00000390353.2 + 0 134 GTCACTCAGACCCCAAAATTC 0.522000 6 110 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179613718 179613718 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179613718T>A ENST00000360870.5 - 46 13631 c.13409A>T c.(13408-13410)aAa>aTa p.K4470I TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 600 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGAACTCCTTTTTCTACATG 0.348000 10 25 0 0 0.000442599 0 0 MMP19 4327 broad.mit.edu 37 12 56233442 56233442 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56233442G>A ENST00000322569.4 - 5 695 c.604C>T c.(604-606)Cgt>Tgt p.R202C MMP19_ENST00000548629.1_Missense_Mutation_p.R179C|MMP19_ENST00000409200.3_Intron NM_002429.4 NP_002420.1 Q99542 MMP19_HUMAN matrix metallopeptidase 19 202 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TTCACCCCACGGTAGGTCCCC 0.612000 4 16 0 0 0.000602214 0 0 XKR9 389668 broad.mit.edu 37 8 71646610 71646610 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:71646610G>A ENST00000408926.3 + 5 1607 c.1073G>A c.(1072-1074)gGa>gAa p.G358E XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.G358E NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 358 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GAAATTGATGGAAAACCAGTT 0.279000 11 22 0 0 0.000308642 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369205 20369205 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:20369205C>T ENST00000593655.1 - 0 199 AATCAAGGATCTTATGGTTGG 0.398000 23 65 0 0 0.000586117 0 0 PLXND1 23129 broad.mit.edu 37 3 129279270 129279270 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:129279270G>A ENST00000393239.1 - 31 5214 c.5036C>T c.(5035-5037)cCt>cTt p.P1679L PLXND1_ENST00000324093.4_Missense_Mutation_p.P1679L Q9Y4D7 PLXD1_HUMAN plexin D1 1679 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTCGTCCGTAGGCAGCACCTG 0.647000 4 6 0 0 0.000602214 0 0 PRDM9 56979 broad.mit.edu 37 5 23524459 23524459 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:23524459C>T ENST00000296682.3 + 10 1149 c.967C>T c.(967-969)Cgg>Tgg p.R323W NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 323 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R323W(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GAACTGTGCCCGGGATGATGA 0.542000 HNSCC(3;0.000094) 13 35 0 0 0.00229938 0 0 ZNF607 84775 broad.mit.edu 37 19 38190771 38190771 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:38190771G>A ENST00000355202.4 - 5 856 c.261C>T c.(259-261)atC>atT p.I87I CTD-2528L19.4_ENST00000586606.2_Silent_p.I87I|ZNF607_ENST00000395835.3_Silent_p.I86I NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TCCCATCGCTGATTATTTCAC 0.318000 17 66 0 0 0.00074312 0 0 SHANK2 22941 broad.mit.edu 37 11 70348903 70348903 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:70348903T>A ENST00000338508.4 - 24 2197 c.2198A>T c.(2197-2199)aAa>aTa p.K733I SHANK2_ENST00000409530.1_Missense_Mutation_p.K143I|SHANK2_ENST00000357171.3_Missense_Mutation_p.K144I|SHANK2_ENST00000423696.2_Missense_Mutation_p.K353I|SHANK2_ENST00000409161.1_Missense_Mutation_p.K143I|SHANK2_ENST00000449833.2_Missense_Mutation_p.K144I|SHANK2_ENST00000449116.2_Missense_Mutation_p.K144I Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 353 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCATGTACCTTTCTTCCTGGC 0.667000 8 9 0 0 0.000442599 0 0 KANK4 163782 broad.mit.edu 37 1 62739788 62739788 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:62739788C>T ENST00000371153.4 - 3 1366 c.988G>A c.(988-990)Gaa>Aaa p.E330K KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 330 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCCAGGCTTTCCTCAGTTACC 0.572000 19 88 0 0 0.00121646 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119484 17119484 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:17119484C>T ENST00000426585.1 + 0 296 TTGGAGTTTTCCTGGTCTTAC 0.333000 19 102 0 0 0.00121646 0 0 C11orf82 220042 broad.mit.edu 37 11 82625887 82625887 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:82625887C>T ENST00000533655.1 + 3 319 c.107C>T c.(106-108)tCc>tTc p.S36F C11orf82_ENST00000430323.2_Missense_Mutation_p.S36F|C11orf82_ENST00000525361.1_Missense_Mutation_p.S36F|C11orf82_ENST00000525388.1_Missense_Mutation_p.S36F|C11orf82_ENST00000524921.1_Missense_Mutation_p.S36F|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000528759.1_Missense_Mutation_p.S36F NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 36 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ATCCTGGTCTCCAAAAGGTAA 0.388000 8 13 0 0 0.000274275 0 0 CSMD1 64478 broad.mit.edu 37 8 3216769 3216769 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:3216769G>A ENST00000520002.1 - 22 3767 c.3212C>T c.(3211-3213)tCc>tTc p.S1071F CSMD1_ENST00000542608.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1071F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1071F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1071F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1071 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGGAAGCAGGAAAACGTCAG 0.557000 35 107 0 0 0.000692331 0 0 VAX2 25806 broad.mit.edu 37 2 71160080 71160080 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71160080C>T ENST00000234392.2 + 3 651 c.619C>T c.(619-621)Ctg>Ttg p.L207L NM_012476.2 NP_036608.1 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 207 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 GACCCCTAGCCTGCCAGGCCT 0.697000 12 35 0 0 0.00185496 0 0 NPSR1 387129 broad.mit.edu 37 7 34851472 34851472 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:34851472G>A ENST00000360581.1 + 4 603 c.475G>A c.(475-477)Gga>Aga p.G159R NPSR1_ENST00000359791.1_Missense_Mutation_p.G159R|NPSR1_ENST00000381539.3_Missense_Mutation_p.G159R|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.G148R NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 159 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GTTCCTTCAAGGAGGTGAGCT 0.448000 26 116 0 0 0.001512 0 0 TMEM150C 441027 broad.mit.edu 37 4 83411342 83411342 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:83411342C>T ENST00000449862.2 - 7 731 c.413G>A c.(412-414)gGa>gAa p.G138E TMEM150C_ENST00000508701.1_3'UTR|TMEM150C_ENST00000515780.1_Missense_Mutation_p.G138E NM_001080506.1 NP_001073975.1 B9EJG8 T150C_HUMAN transmembrane protein 150C 138 integral to membrane ovary(1) 1 TGTGCCAAATCCAAAGGTCAA 0.463000 111 70 0 0 0.000781405 0 0 PTPRB 5787 broad.mit.edu 37 12 71029509 71029509 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:71029509C>T ENST00000334414.6 - 2 437 c.393G>A c.(391-393)atG>atA p.M131I PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.M130I|PTPRB_ENST00000550358.1_Missense_Mutation_p.M131I NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATCTATTTTCATCCAGCTAT 0.438000 11 29 0 0 0.000978159 0 0 SEL1L3 23231 broad.mit.edu 37 4 25783914 25783914 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:25783914C>T ENST00000399878.3 - 15 2529 c.2407G>A c.(2407-2409)Gga>Aga p.G803R SEL1L3_ENST00000502949.1_Missense_Mutation_p.G650R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G768R NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 803 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TGCAGGACTCCAAGATTGTAT 0.448000 21 74 0 0 0.000586117 0 0 WDR96 80217 broad.mit.edu 37 10 105926468 105926468 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105926468C>T ENST00000357060.3 - 23 2932 c.2817G>A c.(2815-2817)aaG>aaA p.K939K WDR96_ENST00000428666.1_Silent_p.K940K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 939 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTACAATTTCCTTCCGTAGCT 0.348000 46 52 0 0 0.000781405 0 0 SGPP2 130367 broad.mit.edu 37 2 223423285 223423285 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:223423285G>A ENST00000321276.7 + 5 954 c.868G>A c.(868-870)Gga>Aga p.G290R NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 290 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) AGTGACCATAGGATTCTGGAT 0.502000 20 71 0 0 0.00229938 0 0 GOLGB1 2804 broad.mit.edu 37 3 121417610 121417610 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121417610C>T ENST00000393667.3 - 13 1870 c.1760G>A c.(1759-1761)gGa>gAa p.G587E GOLGB1_ENST00000340645.5_Missense_Mutation_p.G582E NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 582 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGCCCTTTTTCCCTGGAGCTG 0.358000 12 39 0 0 0.00136819 0 0 OPN1MW 2652 broad.mit.edu 37 X 153458976 153458976 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153458976C>T ENST00000369935.5 + 5 882 c.822C>T c.(820-822)gtC>gtT p.V274V OPN1MW_ENST00000468495.1_3'UTR NM_000513.2 NP_000504.1 P04001 OPSG_HUMAN opsin 1 (cone pigments), medium-wave-sensitive 274 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|lung(1) 2 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGTGATGGTCCTGGCATTCT 0.577000 50 115 0 0 0.000781405 0 0 PCSK1 5122 broad.mit.edu 37 5 95728839 95728839 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:95728839G>A ENST00000311106.3 - 14 2365 c.2128C>T c.(2128-2130)Cct>Tct p.P710S PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.P663S|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 710 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGCTGGGAAGGTTTGTTCAGC 0.418000 42 93 0 0 0.000781405 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52115563 52115563 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:52115563G>A ENST00000222107.4 - 9 1715 c.1577C>T c.(1576-1578)tCt>tTt p.S526F SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S526F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S526F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S526F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S526F O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 526 cell adhesion integral to membrane sugar binding p.S526Y(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTTCATCTCAGAAAAACTAAG 0.552000 36 106 0 0 0.000953801 0 0 AMPH 273 broad.mit.edu 37 7 38431535 38431535 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:38431535C>T ENST00000356264.2 - 19 1907 c.1692G>A c.(1690-1692)gaG>gaA p.E564E AMPH_ENST00000325590.5_Silent_p.E522E|AMPH_ENST00000428293.2_Silent_p.E522E NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 564 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TCTCCTTGGGCTCTGCACCTA 0.592000 12 62 0 0 0.000978159 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884964 24884964 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24884964C>T ENST00000382554.3 + 9 4327 c.4009C>T c.(4009-4011)Ccc>Tcc p.P1337S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1337 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCCCACCAGCCCCCCTGTCTC 0.612000 37 95 0 0 0.000692331 0 0 TACR2 6865 broad.mit.edu 37 10 71166976 71166976 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:71166976G>A ENST00000373306.4 - 4 1345 c.802C>T c.(802-804)Ctc>Ttc p.L268F TACR2_ENST00000373307.1_Missense_Mutation_p.L56F NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 268 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) ATGAAGTAGAGGTGGTAGGGC 0.537000 11 8 0 0 0.000978159 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961290 51961290 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51961290C>T ENST00000321424.3 - 1 418 c.352G>A c.(352-354)Gat>Aat p.D118N SIGLEC8_ENST00000430817.1_Missense_Mutation_p.D118N|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.D118N NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 118 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GACCCCTTATCCCTCTTCCTG 0.488000 78 90 0 0 0.000781405 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516270 138516270 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:138516270G>A ENST00000371763.1 - 5 757 c.504C>T c.(502-504)ttC>ttT p.F168F NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 168 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TGCTGAAGAGGAAGTCCACCT 0.597000 28 31 0 0 0.001512 0 0 TRAV4 28689 broad.mit.edu 37 14 22205169 22205169 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22205169C>T ENST00000390426.2 + 0 300 GAAGTGGCCTCCCTGTTTATC 0.498000 9 20 0 0 0.000442599 0 0 BDKRB2 624 broad.mit.edu 37 14 96707157 96707157 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96707157C>T ENST00000542454.2 + 3 3499 c.411C>T c.(409-411)tcC>tcT p.S137S RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.S164S|BDKRB2_ENST00000539359.1_Silent_p.S137S|BDKRB2_ENST00000554311.1_Silent_p.S164S P30411 BKRB2_HUMAN bradykinin receptor B2 164 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) AAACCATGTCCATGGGCCGGA 0.592000 36 115 0 0 0.000953801 0 0 TCF21 6943 broad.mit.edu 37 6 134210763 134210763 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:134210763G>A ENST00000367882.4 + 1 488 c.228G>A c.(226-228)ggG>ggA p.G76G TCF21_ENST00000237316.3_Silent_p.G76G|RP3-323P13.2_ENST00000607573.1_RNA NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 76 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) GCCAGGAGGGGAAGCAGGTCC 0.692000 10 18 0 0 0.000978159 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264294 61264294 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:61264294G>A ENST00000344731.5 + 8 975 c.873G>A c.(871-873)gaG>gaA p.E291E SERPINB13_ENST00000269489.5_Silent_p.E239E NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 291 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TTGAGGTGGAGGACGGTTACG 0.522000 26 158 0 0 0.00106085 0 0 DSP 1832 broad.mit.edu 37 6 7584062 7584062 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:7584062G>A ENST00000379802.3 + 24 6908 c.6567G>A c.(6565-6567)cgG>cgA p.R2189R DSP_ENST00000418664.2_Silent_p.R1590R NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2189 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton 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) TGAAGGAACGGTGCAGAATCG 0.468000 23 84 0 0 0.00278032 0 0 CIC 23152 broad.mit.edu 37 19 42794425 42794425 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42794425C>T ENST00000572681.2 + 11 4300 c.4232C>T c.(4231-4233)tCc>tTc p.S1411F CIC_ENST00000575354.2_Missense_Mutation_p.S502F|CIC_ENST00000160740.3_Missense_Mutation_p.S502F Q96RK0 CIC_HUMAN capicua transcriptional repressor 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) ATCCGTTCCTCCTTTACCCAC 0.617000 """Mis, F, S""" oligodendroglioma 24 71 0 0 0.00278032 0 0 PKD2 5311 broad.mit.edu 37 4 88973229 88973229 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:88973229C>T ENST00000237596.2 + 7 1701 c.1635C>T c.(1633-1635)ttC>ttT p.F545F PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_5'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 545 basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AAAATACTTTCCCCAACTTTG 0.353000 47 24 0 0 0.000781405 0 0 SNHG14 104472715 broad.mit.edu 37 15 25287125 25287125 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:25287125C>T ENST00000552781.1 + 0 328 SNORD109A_ENST00000459128.1_RNA TTGTTTGGATCGATGATGAGA 0.428000 35 25 0 0 0.00222228 0 0 SLIT3 6586 broad.mit.edu 37 5 168199797 168199797 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:168199797A>G ENST00000519560.1 - 14 1867 c.1448T>C c.(1447-1449)tTc>tCc p.F483S SLIT3_ENST00000404867.3_Missense_Mutation_p.F483S|SLIT3_ENST00000332966.8_Missense_Mutation_p.F483S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 483 LRRCT 2. 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 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) TGAGCAGCGGAACTTCTTGCT 0.607000 14 37 0 0 0.000566183 0 0 COL4A5 1287 broad.mit.edu 37 X 107938566 107938566 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:107938566C>T ENST00000328300.6 + 52 5135 c.4891C>T c.(4891-4893)Cgt>Tgt p.R1631C COL4A5_ENST00000361603.2_Missense_Mutation_p.R1625C NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1625 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding 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 GGAAGAGTTTCGTTCAGCTCC 0.493000 Alport syndrome with Diffuse Leiomyomatosis 23 33 0 0 0.00127121 0 0 BBS12 166379 broad.mit.edu 37 4 123663614 123663614 + Silent SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:123663614T>G ENST00000542236.1 + 3 948 c.567T>G c.(565-567)ctT>ctG p.L189L BBS12_ENST00000314218.3_Silent_p.L189L NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 189 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 TTTCCAACCTTTCTGGGAGAC 0.403000 Bardet-Biedl syndrome 22 49 0 0 0.00229938 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579867 11579867 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11579867C>T ENST00000294484.6 + 9 2268 c.2130C>T c.(2128-2130)atC>atT p.I710I PTCHD2_ENST00000389575.3_Silent_p.I710I NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 710 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCCATCTCATCGTGCAGCTGC 0.672000 29 108 0 0 0.001512 0 0 TRPV6 55503 broad.mit.edu 37 7 142575033 142575033 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142575033C>T ENST00000359396.3 - 4 595 c.e4-1 RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GCAGTCTGACCTGGCCCAGAG 0.627000 16 67 0 0 0.00074312 0 0 GGT5 2687 broad.mit.edu 37 22 24616028 24616028 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:24616028G>A ENST00000327365.4 - 12 2087 c.1671C>T c.(1669-1671)ttC>ttT p.F557F GGT5_ENST00000398292.3_Silent_p.F558F|GGT5_ENST00000263112.7_Silent_p.F525F|GGT5_ENST00000418439.2_Silent_p.F481F NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 557 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCACGTTCAGGAAGAAGGGCC 0.632000 44 11 0 0 0.000781405 0 0 ASIC4 55515 broad.mit.edu 37 2 220397091 220397091 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220397091G>A ENST00000358078.4 + 4 1305 c.1291G>A c.(1291-1293)Gag>Aag p.E431K ASIC4_ENST00000347842.3_Missense_Mutation_p.E431K|ASIC4_ENST00000473709.1_3'UTR Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 431 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity TGAGCTCAGGGAGCCTGAGCT 0.642000 30 27 0 0 0.00127121 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010233 73010233 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:73010233C>T ENST00000313375.3 - 14 2172 c.2125G>A c.(2125-2127)Ggc>Agc p.G709S MLXIPL_ENST00000395189.1_Missense_Mutation_p.G616S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.G688S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.G707S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G690S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G615S NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 709 Leucine-zipper. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCTGCAAGCCCGCACGCTCC 0.632000 30 0 0 0 0.00178596 0 0 C1orf65 164127 broad.mit.edu 37 1 223568257 223568257 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:223568257G>A ENST00000366875.3 + 1 1543 c.1440G>A c.(1438-1440)aaG>aaA p.K480K NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 480 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGGCCCAGAAGGAGGAAGAGC 0.592000 29 34 0 0 0.00178596 0 0 COL8A2 1296 broad.mit.edu 37 1 36564630 36564630 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:36564630C>T ENST00000397799.1 - 4 876 c.652G>A c.(652-654)Gcc>Acc p.A218T COL8A2_ENST00000303143.4_Missense_Mutation_p.A218T|COL8A2_ENST00000481785.1_Missense_Mutation_p.A153T P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 218 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGCCCTGGGGCCCCAGGCAGC 0.716000 7 21 0 0 0.00198382 0 0 KCNA5 3741 broad.mit.edu 37 12 5154166 5154166 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5154166C>G ENST00000252321.3 + 1 1082 c.853C>G c.(853-855)Cct>Gct p.P285A NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 285 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCTCCGCCACCCTCCGGCGCC 0.682000 28 46 0 0 0.000878237 0 0 SENP7 57337 broad.mit.edu 37 3 101062652 101062652 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:101062652G>A ENST00000394095.2 - 14 2037 c.1984C>T c.(1984-1986)Cct>Tct p.P662S SENP7_ENST00000348610.3_Missense_Mutation_p.P629S|SENP7_ENST00000358203.3_Missense_Mutation_p.P498S|SENP7_ENST00000394094.2_Missense_Mutation_p.P597S|SENP7_ENST00000394091.1_Missense_Mutation_p.P498S|SENP7_ENST00000314261.7_Missense_Mutation_p.P596S NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 662 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGAAACAAAGGAAATGCCTGA 0.358000 23 22 0 0 0.00229938 0 0 THSD7B 80731 broad.mit.edu 37 2 137928430 137928430 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:137928430G>A ENST00000409968.1 + 7 1823 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E549K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E518K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCTGGCATCAGAAGGGATCTG 0.537000 10 28 0 0 0.000673444 0 0 ATP2B2 491 broad.mit.edu 37 3 10430007 10430007 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:10430007G>A ENST00000397077.1 - 8 1436 c.861C>T c.(859-861)acC>acT p.T287T ATP2B2_ENST00000343816.4_Silent_p.T287T|ATP2B2_ENST00000352432.4_Silent_p.T287T|ATP2B2_ENST00000383800.4_Silent_p.T287T|ATP2B2_ENST00000360273.2_Silent_p.T287T Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 287 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCCCCAGGAGGGTAAAGATGA 0.522000 53 164 0 0 0.000781405 0 0 C12orf66 144577 broad.mit.edu 37 12 64609701 64609701 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:64609701A>T ENST00000311915.8 - 2 305 c.278T>A c.(277-279)aTc>aAc p.I93N C12orf66_ENST00000398055.3_Missense_Mutation_p.I93N|C12orf66_ENST00000544871.1_Missense_Mutation_p.I40N Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 93 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 TGAAGTATAGATGGTGCGGAT 0.507000 11 27 0 0 0.000978159 0 0 GABRB2 2561 broad.mit.edu 37 5 160721205 160721205 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:160721205C>T ENST00000274547.2 - 11 1639 c.1422G>A c.(1420-1422)ctG>ctA p.L474L GABRB2_ENST00000517547.1_Silent_p.L276L|GABRB2_ENST00000520240.1_Silent_p.L436L|GABRB2_ENST00000353437.6_Silent_p.L436L|GABRB2_ENST00000517901.1_Silent_p.L373L|GABRB2_ENST00000393959.1_Silent_p.L474L NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 474 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGTGATTTTCAGTTGGGAGG 0.502000 5 21 0 0 0.000602214 0 0 PPIA 5478 broad.mit.edu 37 7 44838999 44838999 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:44838999C>T ENST00000468812.1 + 3 154 c.109C>T c.(109-111)Cgt>Tgt p.R37C PPIA_ENST00000355968.6_5'UTR|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000489459.1_5'UTR|PPIA_ENST00000451562.1_Missense_Mutation_p.R37C NM_021130.3 NP_066953.1 P62937 PPIA_HUMAN peptidylprolyl isomerase A (cyclophilin A) 37 PPIase cyclophilin-type. entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus cytosol|extracellular region|nucleus peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Cyclosporine(DB00091)|L-Proline(DB00172) AGAAAATTTTCGTGCTCTGAG 0.313000 31 142 0 0 0.00209593 0 0 AXIN1 8312 broad.mit.edu 37 16 347774 347774 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:347774A>G ENST00000262320.3 - 6 2103 c.1732T>C c.(1732-1734)Tac>Cac p.Y578H AXIN1_ENST00000354866.3_Missense_Mutation_p.Y578H NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 578 Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CTCTCTGAGTAGCCTCGGGAC 0.692000 19 9 0 0 0.00188189 0 0 GAA 2548 broad.mit.edu 37 17 78092138 78092138 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:78092138C>T ENST00000302262.3 + 18 2847 c.2628C>T c.(2626-2628)gtC>gtT p.V876V GAA_ENST00000390015.3_Silent_p.V876V NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 876 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) ACACACAGGTCATCTTCCTGG 0.672000 25 81 0 0 0.000720815 0 0 USH1C 10083 broad.mit.edu 37 11 17531344 17531344 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:17531344G>A ENST00000005226.7 - 18 1571 c.1572C>T c.(1570-1572)ccC>ccT p.P524P USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 PDZ 3. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GTGGGGCCAGGGGAGACACAG 0.587000 30 25 0 0 0.000692331 0 0 TTN 7273 broad.mit.edu 37 2 179641514 179641514 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179641514C>T ENST00000589042.1 - 28 5301 c.5077G>A c.(5077-5079)Gat>Aat p.D1693N TTN_ENST00000360870.5_Missense_Mutation_p.D1693N|TTN_ENST00000591111.1_Missense_Mutation_p.D1693N|TTN_ENST00000359218.5_Missense_Mutation_p.D1647N|TTN_ENST00000342175.6_Missense_Mutation_p.D1647N|TTN_ENST00000342992.6_Missense_Mutation_p.D1693N|TTN_ENST00000460472.2_Missense_Mutation_p.D1647N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1447 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATAGAGATCACCTTCTTCC 0.463000 12 28 0 0 0.00185496 0 0 SP140 11262 broad.mit.edu 37 2 231152662 231152662 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231152662G>A ENST00000392045.3 + 18 1815 c.1701G>A c.(1699-1701)caG>caA p.Q567Q SP140_ENST00000343805.6_Silent_p.Q507Q|SP140_ENST00000417495.3_Silent_p.Q453Q|SP140_ENST00000350136.5_Silent_p.Q436Q|SP140_ENST00000486687.2_Silent_p.Q491Q|SP140_ENST00000420434.3_Silent_p.Q540Q NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 567 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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) GAGCTGCACAGAAAAGAGTCC 0.393000 6 23 0 0 0.000157383 0 0 NLRP4 147945 broad.mit.edu 37 19 56382317 56382317 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56382317C>T ENST00000301295.6 + 7 2901 c.2479C>T c.(2479-2481)Ctc>Ttc p.L827F NLRP4_ENST00000587891.1_Missense_Mutation_p.L752F|NLRP4_ENST00000346986.5_Missense_Mutation_p.L771F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 827 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACTGAAAACTCTCTGCGAGGC 0.502000 27 67 0 0 0.00127121 0 0 ATP13A5 344905 broad.mit.edu 37 3 193068932 193068932 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:193068932C>T ENST00000342358.4 - 7 782 c.665G>A c.(664-666)gGt>gAt p.G222D NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 222 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TTCTATGTAACCTTGAGACAG 0.418000 10 35 0 0 0.000673444 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42285016 42285016 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:42285016G>A ENST00000399518.3 - 13 1875 c.1389C>T c.(1387-1389)ctC>ctT p.L463L PLA2G4E_ENST00000413860.2_Silent_p.L434L|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 451 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGCGCTGCCGGAGCTCCTCCT 0.582000 17 28 0 0 0.000566183 0 0 CORO1C 23603 broad.mit.edu 37 12 109051152 109051152 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109051152G>A ENST00000261401.3 - 6 850 c.678C>T c.(676-678)ttC>ttT p.F226F CORO1C_ENST00000541050.1_Silent_p.F226F|CORO1C_ENST00000421578.2_Silent_p.F121F|CORO1C_ENST00000420959.2_Silent_p.F279F|CORO1C_ENST00000549772.1_Silent_p.F232F|CORO1C_ENST00000549384.1_Intron NM_001105237.2|NM_001276471.1|NM_014325.2 NP_001098707.1|NP_001263400.1|NP_055140.1 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C 226 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 CATCGGCCAGGAAGATGGCTC 0.552000 18 45 0 0 0.00074312 0 0 CCDC170 80129 broad.mit.edu 37 6 151869468 151869468 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:151869468C>T ENST00000367290.5 + 5 707 c.618C>T c.(616-618)ttC>ttT p.F206F CCDC170_ENST00000239374.7_Silent_p.F206F Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 206 AAAATGAATTCGTGAAAGGAC 0.368000 8 22 0 0 0.000274275 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37962599 37962599 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:37962599C>T ENST00000249014.4 + 2 663 c.243C>T c.(241-243)ttC>ttT p.F81F NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 81 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CCCGCAGCTTCCTGGCCAAGA 0.706000 14 32 0 0 0.00244969 0 0 MYL4 4635 broad.mit.edu 37 17 45299208 45299208 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45299208C>T ENST00000354968.1 + 5 602 c.474C>T c.(472-474)gtC>gtT p.V158V MYL4_ENST00000572316.1_Silent_p.V158V|MYL4_ENST00000393450.1_Silent_p.V158V NM_001002841.1 NP_001002841.1 P12829 MYL4_HUMAN myosin, light chain 4, alkali; atrial, embryonic 158 EF-hand 2. cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 TTCGGCACGTCCTTGCCACCC 0.602000 13 33 0 0 0.00244969 0 0 SHANK1 50944 broad.mit.edu 37 19 51217121 51217121 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51217121G>A ENST00000293441.1 - 5 744 c.726C>T c.(724-726)ttC>ttT p.F242F SHANK1_ENST00000359082.3_Silent_p.F242F|SHANK1_ENST00000391814.1_Silent_p.F242F NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 242 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCCGGGCCCGGAAGTCAATGT 0.667000 13 44 0 0 0.00136819 0 0 FCRL3 115352 broad.mit.edu 37 1 157665383 157665383 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:157665383G>A ENST00000368184.3 - 8 1438 c.1147C>T c.(1147-1149)Cct>Tct p.P383S FCRL3_ENST00000368186.5_Missense_Mutation_p.P383S|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 383 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GTGAGGACAGGGTGAGATACC 0.572000 14 53 0 0 0.000422831 0 0 CDYL2 124359 broad.mit.edu 37 16 80667001 80667001 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:80667001C>T ENST00000299564.8 - 3 904 c.749G>A c.(748-750)cGa>cAa p.R250Q CDYL2_ENST00000562812.1_Missense_Mutation_p.R251Q|CDYL2_ENST00000566173.1_Missense_Mutation_p.R251Q|CDYL2_ENST00000563890.1_Missense_Mutation_p.R251Q NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 250 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AACGATGTCTCGAAACCGACA 0.537000 22 74 0 0 0.000586117 0 0 SLC6A14 11254 broad.mit.edu 37 X 115590032 115590032 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:115590032C>T ENST00000371900.4 + 14 1928 c.1840C>T c.(1840-1842)Cgt>Tgt p.R614C SLC6A14_ENST00000463626.1_3'UTR NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 614 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 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) GGAACAACATCGTGGGGAAAG 0.408000 45 5 0 0 0.000781405 0 0 SYNPO2 171024 broad.mit.edu 37 4 119979005 119979005 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:119979005C>T ENST00000307142.4 + 5 3898 c.3702C>T c.(3700-3702)tcC>tcT p.S1234S SYNPO2_ENST00000448416.2_3'UTR NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 0 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAATCATGTCCATGGAAACCA 0.433000 24 37 0 0 0.00278032 0 0 LIN28B 389421 broad.mit.edu 37 6 105526471 105526471 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:105526471C>T ENST00000345080.4 + 4 769 c.566C>T c.(565-567)tCa>tTa p.S189L NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 189 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) CCATGCACTTCAACTCTCCCT 0.557000 16 22 0 0 0.000422831 0 0 SEPT3 55964 broad.mit.edu 37 22 42383211 42383211 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:42383211G>A ENST00000396425.3 + 4 464 c.331_splice c.e4-1 p.V111_splice SEPT3_ENST00000406029.1_Splice_Site_p.V47_splice|SEPT3_ENST00000396426.3_Splice_Site_p.V111_splice|SEPT3_ENST00000291236.11_Splice_Site_p.V47_splice|SEPT3_ENST00000328414.8_Intron NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 111 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 CACCCCCAGTGATAGAGGAAG 0.522000 8 92 0 0 0.000274275 0 0 ZNF606 80095 broad.mit.edu 37 19 58490821 58490821 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58490821G>A ENST00000341164.4 - 7 1847 c.1227C>T c.(1225-1227)ttC>ttT p.F409F ZNF606_ENST00000536132.1_Silent_p.F319F NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AGCTCCAGATGAAAGACGTCC 0.393000 28 57 0 0 0.000878237 0 0 BPTF 2186 broad.mit.edu 37 17 65914840 65914840 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:65914840C>T ENST00000321892.4 + 14 5753 c.5692C>T c.(5692-5694)Cag>Tag p.Q1898* BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q1898*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q1759*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q1772* Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1898 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GTATAGACTTCAGACAGTAAA 0.423000 43 143 0 0 0.000781405 0 0 AC096579.13 0 broad.mit.edu 37 2 89156784 89156784 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:89156784G>A ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA ACCGCAATAGGGGTAGGTCCC 0.522000 6 5 0 0 0.00116845 0 0 ENPP3 5169 broad.mit.edu 37 6 131997883 131997883 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:131997883C>T ENST00000414305.1 + 11 1208 c.880C>T c.(880-882)Cca>Tca p.P294S ENPP3_ENST00000358229.5_Missense_Mutation_p.P294S|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.P294S O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 294 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAGAAGTGTCCCATTTGAAGA 0.348000 7 18 0 0 0.000274275 0 0 LRIG1 26018 broad.mit.edu 37 3 66457825 66457825 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:66457825G>A ENST00000383703.3 - 8 1629 c.1026C>T c.(1024-1026)tcC>tcT p.S342S LRIG1_ENST00000273261.3_Silent_p.S342S Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 342 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TGTGGCTGATGGAATTGTGGC 0.592000 12 34 0 0 0.00244969 0 0 GGTLC1 92086 broad.mit.edu 37 20 23965943 23965943 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:23965943G>A ENST00000335694.4 - 6 792 c.588C>T c.(586-588)ttC>ttT p.F196F GGTLC1_ENST00000286890.4_Silent_p.F196F|GGTLC1_ENST00000278765.4_Silent_p.F196F NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 196 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CCACAGCAATGAAGGTGGACG 0.632000 36 87 0 0 0.00128727 0 0 CYP26C1 340665 broad.mit.edu 37 10 94822677 94822677 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:94822677G>A ENST00000285949.5 + 3 630 c.630G>A c.(628-630)ctG>ctA p.L210L NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 210 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GCGCCACGCTGGCCCGGACCT 0.677000 12 21 0 0 0.000566183 0 0 LRRC7 57554 broad.mit.edu 37 1 70488833 70488833 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:70488833G>A ENST00000310961.5 + 18 1889 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.E486K|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 486 centrosome|focal adhesion|nucleolus protein binding 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 AGCCCCCTGGGAAAGGGGCCA 0.517000 16 28 0 0 0.00074312 0 0 EHMT1 79813 broad.mit.edu 37 9 140728941 140728941 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:140728941C>T ENST00000460843.1 + 26 3708 c.3681C>T c.(3679-3681)ttC>ttT p.F1227F NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1227 SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) TCGCCTTCTTCAGCACCCGCC 0.697000 7 39 0 0 0.000274275 0 0 OR10A6 390093 broad.mit.edu 37 11 7950003 7950003 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:7950003C>T ENST00000309838.2 - 1 206 c.207G>A c.(205-207)gtG>gtA p.V69V NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AACTCAGGTCCACCACAGATA 0.443000 19 25 0 0 0.00152264 0 0 PTPRK 5796 broad.mit.edu 37 6 128298072 128298072 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:128298072G>A ENST00000368227.3 - 27 4256 c.3890C>T c.(3889-3891)tCc>tTc p.S1297F PTPRK_ENST00000368213.5_Missense_Mutation_p.S1286F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S1279F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S1312F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S1298F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S1280F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S1302F Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1279 Tyrosine-protein phosphatase 2. 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 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) ATTAACCTGGGACAAGTCGAC 0.358000 7 13 0 0 0.000274275 0 0 TNXB 7148 broad.mit.edu 37 6 32036660 32036660 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32036660C>T ENST00000375244.3 - 16 6042 c.5841G>A c.(5839-5841)gtG>gtA p.V1947V TNXB_ENST00000375247.2_Silent_p.V1947V P22105 TENX_HUMAN tenascin XB 2029 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CATACAGGGTCACCAGGTATC 0.542000 124 147 0 0 0.000781405 0 0 DPY19L4 286148 broad.mit.edu 37 8 95800237 95800237 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:95800237G>A ENST00000414645.2 + 18 2063 c.1964G>A c.(1963-1965)aGa>aAa p.R655K NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 655 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) GGACCCATGAGAGGCTGTAGG 0.323000 130 296 0 0 0.000781405 0 0 ARID1B 57492 broad.mit.edu 37 6 157488186 157488186 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:157488186C>A ENST00000346085.5 + 10 2893 c.2892C>A c.(2890-2892)ttC>ttA p.F964L ARID1B_ENST00000275248.4_Missense_Mutation_p.F893L|ARID1B_ENST00000350026.5_Missense_Mutation_p.F951L|ARID1B_ENST00000367148.1_Missense_Mutation_p.F951L|ARID1B_ENST00000478761.1_3'UTR NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 951 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AAGGCAGTTTCCCCGGCATGA 0.522000 69 96 1.42954e-44 5.31239e-44 0.000781405 1 0 C3orf84 646498 broad.mit.edu 37 3 49215944 49215944 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49215944T>C ENST00000545770.2 - 3 255 c.169A>G c.(169-171)Aag>Gag p.K57E C3orf84_ENST00000432035.2_Missense_Mutation_p.K57E|C3orf84_ENST00000443990.1_5'UTR NM_001080528.2 NP_001073997.2 chromosome 3 open reading frame 84 TTGTCGTGCTTGGAGAAGAAG 0.517000 12 41 0 0 0.000422831 0 0 CCT6A 908 broad.mit.edu 37 7 56126106 56126106 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:56126106C>T ENST00000275603.4 + 7 996 c.777C>T c.(775-777)ctC>ctT p.L259L CCT6A_ENST00000335503.3_Silent_p.L214L|CCT6A_ENST00000540286.1_Silent_p.L228L NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 259 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGAAAAACTCGTGAAAGCTG 0.313000 13 70 0 0 0.00244969 0 0 BRD4 23476 broad.mit.edu 37 19 15350470 15350470 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15350470G>A ENST00000263377.2 - 16 3666 c.3445_splice c.e16+1 p.R1149_splice NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1149 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GAGCACTCACGCTGGGGCAGG 0.701000 T C15orf55 lethal midline carcinoma of young people 40 40 0 0 0.00195071 0 0 LGR5 8549 broad.mit.edu 37 12 71946912 71946912 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:71946912C>T ENST00000266674.5 + 5 799 c.488C>T c.(487-489)tCc>tTc p.S163F LGR5_ENST00000540815.2_Missense_Mutation_p.S163F|LGR5_ENST00000536515.1_Intron O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 163 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GGCCTGCATTCCCTGAGGCAC 0.507000 93 228 0 0 0.000781405 0 0 OR4M1 441670 broad.mit.edu 37 14 20249337 20249337 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20249337C>T ENST00000315957.4 + 1 937 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TTTACTTAATCCCATTATTTA 0.368000 10 35 0 0 0.000442599 0 0 PKD1L2 114780 broad.mit.edu 37 16 81151065 81151065 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:81151065G>A ENST00000534142.1 - 0 1071 PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGCTGGCCAGGATGATGGCCA 0.612000 27 66 0 0 0.00209593 0 0 PPP6R3 55291 broad.mit.edu 37 11 68341637 68341637 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:68341637C>T ENST00000393799.2 + 13 1671 c.1404C>T c.(1402-1404)atC>atT p.I468I PPP6R3_ENST00000529710.1_Silent_p.I417I|PPP6R3_ENST00000527403.2_Silent_p.I468I|PPP6R3_ENST00000524904.1_Silent_p.I468I|PPP6R3_ENST00000524845.1_Silent_p.I468I|PPP6R3_ENST00000393800.2_Silent_p.I468I|PPP6R3_ENST00000393801.3_Silent_p.I468I|PPP6R3_ENST00000534534.1_Silent_p.I236I|PPP6R3_ENST00000265636.5_Silent_p.I417I|PPP6R3_ENST00000265637.4_Silent_p.I468I Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 468 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTAACTGTATCGTGCACAGCA 0.448000 18 22 0 0 0.000958276 0 0 USP6 9098 broad.mit.edu 37 17 5066201 5066201 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:5066201G>A ENST00000574788.1 + 33 5168 c.2938G>A c.(2938-2940)Gat>Aat p.D980N USP6_ENST00000250066.6_Missense_Mutation_p.D980N|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.D663N P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 980 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGTAAAATTGATTGTGGGGA 0.393000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 115 7 0 0 0.000781405 0 0 CREBRF 153222 broad.mit.edu 37 5 172517681 172517681 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:172517681C>T ENST00000540014.1 + 4 818 c.499C>T c.(499-501)Ccc>Tcc p.P167S CREBRF_ENST00000296953.2_Missense_Mutation_p.P167S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P167S|CREBRF_ENST00000520420.1_Missense_Mutation_p.P167S Q8IUR6 CE041_HUMAN CREB3 regulatory factor 167 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity CAAACAAAATCCCTTACCCTC 0.433000 17 24 0 0 0.000566183 0 0 OR8B3 390271 broad.mit.edu 37 11 124267101 124267101 + Silent SNP G G A rs140121900 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124267101G>A ENST00000354597.3 - 1 163 c.147C>T c.(145-147)ttC>ttT p.F49F NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATTTAGACCGAAAAGAATGA 0.418000 12 13 0 0 0.00185496 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141207 143141207 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143141207G>A ENST00000332690.1 + 1 662 c.662G>A c.(661-663)gGa>gAa p.G221E EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 221 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ACATCTCTGGGAAGACACAGG 0.458000 47 74 0 0 0.000781405 0 0 ZNF560 147741 broad.mit.edu 37 19 9577548 9577548 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9577548G>A ENST00000301480.4 - 10 2288 c.2075C>T c.(2074-2076)tCc>tTc p.S692F NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ATTTCGAAAGGAATTTCCACA 0.378000 35 117 0 0 0.00111076 0 0 ZNF883 169834 broad.mit.edu 37 9 115760208 115760208 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:115760208G>A ENST00000427548.1 - 0 1605 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ATTTCTAAGGGATGACCTATG 0.383000 16 49 0 0 0.000308642 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375518 93375518 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:93375518T>G ENST00000375765.3 - 2 980 c.592A>C c.(592-594)Atc>Ctc p.I198L NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 198 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CTTCACATGATCACGCACTTG 0.562000 20 87 0 0 0.00188189 0 0 CHIA 27159 broad.mit.edu 37 1 111862931 111862931 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:111862931G>A ENST00000369740.1 + 12 1377 c.1274G>A c.(1273-1275)gGa>gAa p.G425E CHIA_ENST00000451398.2_Missense_Mutation_p.G264E|CHIA_ENST00000343320.6_Missense_Mutation_p.G425E|CHIA_ENST00000483391.1_Missense_Mutation_p.G264E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Missense_Mutation_p.G317E|CHIA_ENST00000353665.6_Missense_Mutation_p.G264E NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 425 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GGCAGCTCGGGAGGCAGTGGA 0.597000 8 64 0 0 0.000442599 0 0 DNM3 26052 broad.mit.edu 37 1 172277953 172277953 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:172277953G>A ENST00000358155.4 + 16 2031 c.1855G>A c.(1855-1857)Gct>Act p.A619T DNM3_ENST00000520906.1_Missense_Mutation_p.A619T|DNM3_ENST00000355305.5_Missense_Mutation_p.A629T|DNM3_ENST00000367731.1_Missense_Mutation_p.A619T NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 629 PH. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCTACTAAGAGCTGGGGTCTA 0.368000 8 49 0 0 0.000157383 0 0 BEND3 57673 broad.mit.edu 37 6 107390646 107390646 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:107390646G>A ENST00000429433.2 - 5 2398 c.1749C>T c.(1747-1749)ccC>ccT p.P583P BEND3_ENST00000369042.1_Silent_p.P583P NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 583 BEN 3. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 TGAAGAGCTCGGGGAACAGGT 0.632000 25 32 0 0 0.00106085 0 0 CP 1356 broad.mit.edu 37 3 148928053 148928053 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:148928053C>T ENST00000264613.6 - 3 770 c.508G>A c.(508-510)Gga>Aga p.G170R NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 170 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTGCCATCTCCTTCCCCAGGA 0.408000 28 63 0 0 0.000878237 0 0 CSHL1 1444 broad.mit.edu 37 17 61987521 61987521 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:61987521C>T ENST00000450719.3 - 3 427 c.190G>A c.(190-192)Gtg>Atg p.V64M CSHL1_ENST00000309894.5_Splice_Site|CSHL1_ENST00000259003.10_Splice_Site|CSHL1_ENST00000561003.1_Missense_Mutation_p.V75M|CSHL1_ENST00000346606.6_Splice_Site|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Splice_Site|CSHL1_ENST00000392824.4_3'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GCCACCCTCACCCCCATCAGC 0.577000 18 80 0 0 0.000958276 0 0 NAV1 89796 broad.mit.edu 37 1 201786325 201786325 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201786325C>T ENST00000367296.4 + 29 5870 c.5450C>T c.(5449-5451)cCc>cTc p.P1817L NAV1_ENST00000367302.1_Missense_Mutation_p.P1770L|NAV1_ENST00000367295.1_Missense_Mutation_p.P1423L|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.P1757L|NAV1_ENST00000295624.6_Missense_Mutation_p.P1814L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.P1809L NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1817 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CTGCCCCCACCCACCGTGGGC 0.582000 11 57 0 0 0.000673444 0 0 OBSCN 84033 broad.mit.edu 37 1 228456260 228456260 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228456260C>T ENST00000570156.2 + 19 5517 c.5443C>T c.(5443-5445)Cca>Tca p.P1815S OBSCN_ENST00000359599.6_Missense_Mutation_p.P287S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P1631S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1631S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 802 Ig-like 18. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAAGGAGCAGCCAGCACACAG 0.627000 22 25 0 0 0.0024448 0 0 BEND3 57673 broad.mit.edu 37 6 107391958 107391958 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:107391958G>A ENST00000429433.2 - 5 1086 c.437C>T c.(436-438)tCg>tTg p.S146L BEND3_ENST00000369042.1_Missense_Mutation_p.S146L NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 146 p.S146L(1) central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CAGGTCCCCCGAGGGAGGATT 0.572000 37 52 0 0 0.00195071 0 0 CAMK1 8536 broad.mit.edu 37 3 9804897 9804897 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:9804897C>T ENST00000256460.3 - 4 393 c.215_splice c.e4-1 p.K72_splice OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 72 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) GGTGCTTGATCCTGAAAGGAG 0.562000 27 93 0 0 0.00283554 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332244 100332244 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:100332244C>T ENST00000341853.1 - 0 1947 NR_003260.1 GCAGCGGTCCCAGCCCCAGTG 0.647000 5 17 0 0 0.000602214 0 0 ACACB 32 broad.mit.edu 37 12 109694020 109694020 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109694020C>T ENST00000338432.7 + 45 6361 c.6242C>T c.(6241-6243)aCc>aTc p.T2081I ACACB_ENST00000377854.5_Missense_Mutation_p.T2011I|ACACB_ENST00000377848.3_Missense_Mutation_p.T2081I|ACACB_ENST00000543201.1_Missense_Mutation_p.T747I O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2081 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGGGCGCAGACCGTGGTGACA 0.597000 6 38 0 0 0.00198382 0 0 LCE2C 353140 broad.mit.edu 37 1 152648570 152648570 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152648570A>G ENST00000368783.1 + 2 134 c.79A>G c.(79-81)Aag>Gag p.K27E LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 27 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) atgtccacctaagtgtccccc 0.582000 36 76 0 0 0.000814825 0 0 ADSSL1 122622 broad.mit.edu 37 14 105207213 105207213 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105207213C>T ENST00000332972.5 + 7 910 c.751C>T c.(751-753)Ccc>Tcc p.P251S ADSSL1_ENST00000330877.2_Missense_Mutation_p.P208S NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 208 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GTCGATGTTCCCCACCCTGGA 0.597000 53 155 0 0 0.000781405 0 0 CELA3B 23436 broad.mit.edu 37 1 22310198 22310198 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:22310198C>T ENST00000337107.6 + 5 393 c.374C>T c.(373-375)gCc>gTc p.A125V NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 125 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 AATGACATCGCCCTCATCAAG 0.647000 17 70 0 0 0.00188189 0 0 DGKI 9162 broad.mit.edu 37 7 137531208 137531208 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:137531208C>T ENST00000424189.2 - 1 630 c.401_splice c.e1+1 p.R134_splice DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Splice_Site_p.R134_splice|DGKI_ENST00000446122.1_Splice_Site_p.R134_splice O75912 DGKI_HUMAN diacylglycerol kinase, iota 134 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCGCACCTACCTGTACGAGAC 0.672000 7 42 0 0 0.000274275 0 0 SIK1 150094 broad.mit.edu 37 21 44837465 44837465 + Missense_Mutation SNP C C T rs34614061 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:44837465C>T ENST00000270162.6 - 13 2066 c.1934G>A c.(1933-1935)cGg>cAg p.R645Q NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 645 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 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 CCAGCCCTCCCGGCTGCCGGC 0.751000 7 22 0 0 0.00198382 0 0 KCNH4 23415 broad.mit.edu 37 17 40321537 40321537 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:40321537G>A ENST00000264661.3 - 9 1880 c.1548C>T c.(1546-1548)ttC>ttT p.F516F KCNH4_ENST00000607371.1_Silent_p.F516F NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 516 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACGTGGTCTGGAAGTATTCGA 0.657000 19 55 0 0 0.00278032 0 0 CLEC4D 338339 broad.mit.edu 37 12 8671697 8671697 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8671697G>A ENST00000299665.2 + 4 518 c.325G>A c.(325-327)Gaa>Aaa p.E109K NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 109 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) GGCTGAGAGTGAAAGGAACTG 0.512000 17 18 0 0 0.000566183 0 0 WNK3 65267 broad.mit.edu 37 X 54259292 54259292 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:54259292C>T ENST00000354646.2 - 21 5228 c.4790G>A c.(4789-4791)cGa>cAa p.R1597Q WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1550 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGGGCGGCTTCGAAGTTTGCT 0.418000 45 50 0 0 0.000781405 0 0 FBN1 2200 broad.mit.edu 37 15 48704789 48704789 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:48704789C>T ENST00000316623.5 - 65 8658 c.8203G>A c.(8203-8205)Gaa>Aaa p.E2735K FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2735 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCATCAGTTTCGTTTGTGCTT 0.498000 43 21 0 0 0.00222228 0 0 EFCAB12 90288 broad.mit.edu 37 3 129140478 129140478 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:129140478G>A ENST00000505956.1 - 2 380 c.218C>T c.(217-219)cCt>cTt p.P73L EFCAB12_ENST00000326085.3_Missense_Mutation_p.P73L NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 TTGGGATGCAGGATTAAGGGG 0.572000 12 30 0 0 0.00185496 0 0 HMCN1 83872 broad.mit.edu 37 1 186014931 186014931 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186014931A>G ENST00000271588.4 + 41 6645 c.6416A>G c.(6415-6417)aAa>aGa p.K2139R HMCN1_ENST00000367492.2_Missense_Mutation_p.K2139R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2139 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTTGGTTAAAAGACGGCCAC 0.393000 34 28 0 0 0.0024448 0 0 PDCD11 22984 broad.mit.edu 37 10 105174058 105174058 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105174058C>T ENST00000369797.3 + 11 1436 c.1342C>T c.(1342-1344)Cat>Tat p.H448Y NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 448 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCTTAGATATCATGACATCGA 0.438000 8 15 0 0 0.000442599 0 0 PPM1H 57460 broad.mit.edu 37 12 63225927 63225927 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:63225927G>A ENST00000228705.6 - 2 678 c.378C>T c.(376-378)ccC>ccT p.P126P NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 126 phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CTTCCCCATTGGGAAGGGAGG 0.552000 23 10 0 0 0.00106085 0 0 TEC 7006 broad.mit.edu 37 4 48147207 48147207 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:48147207G>A ENST00000381501.3 - 14 1516 c.1359C>T c.(1357-1359)ttC>ttT p.F453F TEC_ENST00000511471.2_5'UTR NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 453 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 TCTGTCGGAGGAAATTCAGAA 0.473000 29 64 0 0 0.00127121 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894142 10894142 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:10894142C>T ENST00000283141.6 + 3 417 c.121C>T c.(121-123)Cag>Tag p.Q41* RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 41 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TAAAGGATTTCAGAAAATAAA 0.308000 30 8 0 0 0.00178596 0 0 XIRP2 129446 broad.mit.edu 37 2 168105146 168105146 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:168105146A>T ENST00000409195.1 + 9 7333 c.7244A>T c.(7243-7245)aAa>aTa p.K2415I XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2193I|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2415I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2240 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATAACAGGAAAAACCGGTGTG 0.438000 12 55 0 0 0.00136819 0 0 CSMD2 114784 broad.mit.edu 37 1 34180194 34180194 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34180194C>T ENST00000373381.4 - 21 3575 c.3399G>A c.(3397-3399)agG>agA p.R1133R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1093 CUB 7. integral to membrane|plasma membrane protein binding 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) TACCAACACACCTTGGCAGAG 0.597000 124 163 0 0 0.000781405 0 0 ALKBH2 121642 broad.mit.edu 37 12 109527987 109527987 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109527987G>A ENST00000429722.2 - 3 669 c.306C>T c.(304-306)ttC>ttT p.F102F ALKBH2_ENST00000440112.2_Intron|ALKBH2_ENST00000343075.3_Silent_p.F102F NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 102 Substrate binding. DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) GCCACTTCCCGAATACCTGGA 0.582000 Direct reversal of damage 30 20 0 0 0.0024448 0 0 FADS3 3995 broad.mit.edu 37 11 61645658 61645658 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:61645658G>A ENST00000540820.1 - 6 849 c.777C>T c.(775-777)ccC>ccT p.P259P FADS3_ENST00000527697.1_Silent_p.P135P|FADS3_ENST00000278829.2_Silent_p.P259P|FADS3_ENST00000525588.1_Silent_p.P231P Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 259 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCTGGTTGTAGGGTAGGTATC 0.612000 24 28 0 0 0.00127121 0 0 LAMA1 284217 broad.mit.edu 37 18 7050746 7050746 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:7050746C>T ENST00000389658.3 - 4 628 c.535G>A c.(535-537)Gaa>Aaa p.E179K NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 179 Laminin N-terminal. 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 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) CAGATCACTTCATCATCAGCC 0.507000 13 65 0 0 0.00136819 0 0 DYSF 8291 broad.mit.edu 37 2 71894640 71894640 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71894640G>A ENST00000258104.3 + 47 5612 c.5335G>A c.(5335-5337)Gag>Aag p.E1779K DYSF_ENST00000413539.2_Missense_Mutation_p.E1810K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1817K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1818K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1797K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1787K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1796K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1811K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1800K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1801K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.E1780K NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1779 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding 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 GCCAGACATCGAGCAGGTAGG 0.632000 9 30 0 0 0.000274275 0 0 NGEF 25791 broad.mit.edu 37 2 233835021 233835021 + Nonsense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:233835021T>A ENST00000264051.3 - 3 564 c.286A>T c.(286-288)Aaa>Taa p.K96* NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 96 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|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 cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TTTACAGATTTTCCATTGTCC 0.463000 28 66 0 0 0.00178596 0 0 SSH3 54961 broad.mit.edu 37 11 67077398 67077398 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:67077398C>T ENST00000308127.4 + 12 1546 c.1368C>T c.(1366-1368)ttC>ttT p.F456F SSH3_ENST00000376757.5_Silent_p.F456F|SSH3_ENST00000308298.7_Intron NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 456 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) ACCCTGGCTTCCTGCGCCAGC 0.662000 18 21 0 0 0.000566183 0 0 OR6B1 135946 broad.mit.edu 37 7 143701136 143701136 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143701136G>A ENST00000408922.2 + 1 115 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) ATTCTGGTGGGATTCCCTGGG 0.478000 15 37 0 0 0.000308642 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493450 60493450 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:60493450G>A ENST00000450662.2 + 12 1304 c.1233G>A c.(1231-1233)ggG>ggA p.G411G EFCAB3_ENST00000305286.3_Silent_p.G359G NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 359 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) AGATCCGAGGGGATTTGATTG 0.423000 29 101 0 0 0.00106085 0 0 INPP5A 3632 broad.mit.edu 37 10 134463968 134463968 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:134463968G>T ENST00000368594.3 + 4 542 c.265G>T c.(265-267)Gtc>Ttc p.V89F INPP5A_ENST00000368593.3_Missense_Mutation_p.V89F NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 89 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CAGGGCTCGAGTCTACCTGGA 0.532000 56 186 1.72039e-30 6.38421e-30 0.000781405 1 0 MIOS 54468 broad.mit.edu 37 7 7645580 7645580 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:7645580C>T ENST00000340080.4 + 12 2830 c.2409C>T c.(2407-2409)acC>acT p.T803T MIOS_ENST00000405785.1_Silent_p.T803T NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 803 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAGGAGGAACCAAATCAGATG 0.318000 22 7 0 0 0.00152264 0 0 CCL5 6352 broad.mit.edu 37 17 34199381 34199381 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:34199381C>T ENST00000293272.3 - 3 478 c.276G>A c.(274-276)taG>taA p.*92* AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Silent_p.*92* NM_002985.2 NP_002976.2 P13501 CCL5_HUMAN chemokine (C-C motif) ligand 5 0 activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus extracellular space CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity breast(1)|kidney(1)|lung(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0183) ACTCTCCATCCTAGCTCATCT 0.517000 46 33 0 0 0.000781405 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913437 77913437 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:77913437G>A ENST00000321110.1 - 2 776 c.481C>T c.(481-483)Ccc>Tcc p.P161S NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 161 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 ATATTTGGGGGATCCTGGGGT 0.567000 31 1 0 0 0.00283554 0 0 LGR6 59352 broad.mit.edu 37 1 202287144 202287144 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:202287144C>T ENST00000367278.3 + 18 1802 c.1713C>T c.(1711-1713)atC>atT p.I571I LGR6_ENST00000439764.2_Silent_p.I432I|LGR6_ENST00000255432.7_Silent_p.I519I NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 571 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGTGGGCCATCGTGTTGCTCT 0.612000 25 132 0 0 0.000586117 0 0 ABCG1 9619 broad.mit.edu 37 21 43702436 43702436 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:43702436C>T ENST00000398437.1 + 7 1227 c.1079C>T c.(1078-1080)aCc>aTc p.T360I ABCG1_ENST00000398457.2_Missense_Mutation_p.T216I|ABCG1_ENST00000343687.3_Missense_Mutation_p.T225I|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.T322I|ABCG1_ENST00000361802.2_Missense_Mutation_p.T214I|ABCG1_ENST00000347800.2_Missense_Mutation_p.T211I|ABCG1_ENST00000398449.3_Missense_Mutation_p.T214I P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 214 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) AACACGCGGACCGGGAGCCTG 0.612000 42 3 0 0 0.000680045 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192188 125192188 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:125192188C>T ENST00000431078.1 + 5 1021 c.657C>T c.(655-657)ttC>ttT p.F219F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 219 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGGTCCTGTTCCATGGAGAAG 0.502000 20 17 0 0 0.00121646 0 0 DNMT3B 1789 broad.mit.edu 37 20 31394046 31394046 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31394046C>T ENST00000328111.2 + 22 2654 c.2333C>T c.(2332-2334)tCg>tTg p.S778L DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S770L|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S758L|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000344505.4_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 778 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACCACCAAGTCGAACTCGATC 0.448000 13 47 0 0 0.00185496 0 0 GPD1 2819 broad.mit.edu 37 12 50500608 50500608 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:50500608G>A ENST00000301149.3 + 5 752 c.520G>A c.(520-522)Gga>Aga p.G174R GPD1_ENST00000548814.1_Missense_Mutation_p.G151R|GPD1_ENST00000547190.1_3'UTR NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 174 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) CCCGGCCCAGGGACAACTCCT 0.483000 16 38 0 0 0.00121646 0 0 SRCAP 10847 broad.mit.edu 37 16 30736199 30736199 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:30736199C>T ENST00000262518.4 + 25 5839 c.5454C>T c.(5452-5454)tcC>tcT p.S1818S SRCAP_ENST00000344771.4_Silent_p.S1660S|SRCAP_ENST00000395059.2_Silent_p.S1756S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1818 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ccccagcTTCCCAGGCATCTT 0.632000 13 31 0 0 0.00136819 0 0 NOC2L 26155 broad.mit.edu 37 1 888564 888564 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:888564G>A ENST00000327044.6 - 9 1042 c.993C>T c.(991-993)ccC>ccT p.P331P NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 331 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCTTGAGGACGGGGCCAAGGA 0.607000 7 24 0 0 0.000157383 0 0 SZT2 23334 broad.mit.edu 37 1 43908610 43908610 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:43908610C>T ENST00000562955.1 + 58 8101 c.8101C>T c.(8101-8103)Ccc>Tcc p.P2701S SZT2_ENST00000372442.1_Missense_Mutation_p.P1859S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2758 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGGTCCTCTTCCCCTGGACAC 0.642000 33 31 0 0 0.0024448 0 0 ELN 2006 broad.mit.edu 37 7 73483003 73483003 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:73483003G>A ENST00000252034.7 + 33 2547 c.2148G>A c.(2146-2148)ggG>ggA p.G716G ELN_ENST00000357036.5_Silent_p.G703G|ELN_ENST00000414324.1_Silent_p.G692G|ELN_ENST00000380584.4_Silent_p.G650G|ELN_ENST00000380575.4_Silent_p.G669G|ELN_ENST00000380576.5_Silent_p.G697G|ELN_ENST00000358929.4_Silent_p.G784G|ELN_ENST00000380562.4_Silent_p.G722G|ELN_ENST00000380553.4_Silent_p.G562G|ELN_ENST00000320399.6_Silent_p.G749G|ELN_ENST00000320492.7_Silent_p.G635G|ELN_ENST00000429192.1_Silent_p.G684G|ELN_ENST00000458204.1_Silent_p.G706G|ELN_ENST00000445912.1_Silent_p.G698G NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 778 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCTGCCTGGGGAAAGCTTGTG 0.577000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 19 68 0 0 0.00188189 0 0 PLXNA4 91584 broad.mit.edu 37 7 131831286 131831286 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:131831286G>A ENST00000359827.3 - 28 6000 c.5038C>T c.(5038-5040)Cga>Tga p.R1680* PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.R1680* Q9HCM2 PLXA4_HUMAN plexin A4 1680 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCCAGGAGTCGGGTCAGGTAG 0.567000 84 238 0 0 0.000781405 0 0 RNMT 8731 broad.mit.edu 37 18 13742548 13742548 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:13742548C>T ENST00000383314.2 + 8 1276 c.1036C>T c.(1036-1038)Cag>Tag p.Q346* RNMT_ENST00000589866.1_Nonsense_Mutation_p.Q346*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.Q346*|RNMT_ENST00000543302.2_Nonsense_Mutation_p.Q346*|RNMT_ENST00000592764.1_Nonsense_Mutation_p.Q346*|RNMT_ENST00000535051.1_Nonsense_Mutation_p.Q104* O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 346 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 TGTGAAATTTCAGAAGAAAGG 0.338000 28 116 0 0 0.000720815 0 0 OBSCN 84033 broad.mit.edu 37 1 228402506 228402506 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228402506C>T ENST00000570156.2 + 5 1609 c.1535C>T c.(1534-1536)cCc>cTc p.P512L OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P512L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P512L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 512 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGAAGCCTCCCCTGCAACCC 0.612000 4 20 0 0 0.000602214 0 0 CHSY1 22856 broad.mit.edu 37 15 101718740 101718740 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:101718740T>C ENST00000254190.3 - 3 1737 c.1262A>G c.(1261-1263)aAg>aGg p.K421R CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 421 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCTCTGGTCTTGGCGTTGGC 0.572000 28 42 0 0 0.00209593 0 0 GRIK4 2900 broad.mit.edu 37 11 120833374 120833374 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120833374G>A ENST00000527524.2 + 18 2537 c.2250G>A c.(2248-2250)ggG>ggA p.G750G GRIK4_ENST00000438375.2_Silent_p.G750G Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 750 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AGGGCTATGGGATTGGCATGC 0.537000 14 31 0 0 0.00152264 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393508 145393508 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:145393508C>T ENST00000511217.1 + 4 995 c.943C>T c.(943-945)Cct>Tct p.P315S SH3RF2_ENST00000359120.4_Missense_Mutation_p.P315S Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 315 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTCCATTCTCCTTCAGGGCG 0.577000 43 30 0 0 0.000781405 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138844 126138844 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:126138844C>T ENST00000299308.3 + 9 2833 c.2825C>T c.(2824-2826)tCc>tTc p.S942F TMEM132B_ENST00000535886.1_Missense_Mutation_p.S454F NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 942 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATCCCCCATTCCCACGACTGG 0.512000 23 58 0 0 0.000586117 0 0 ACSM4 341392 broad.mit.edu 37 12 7459334 7459334 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7459334G>A ENST00000399422.4 + 2 455 c.407G>A c.(406-408)cGa>cAa p.R136Q NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 136 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GCTTGCATACGAACAGGTCAG 0.463000 5 10 0 0 0.00116845 0 0 CRLF1 9244 broad.mit.edu 37 19 18707711 18707711 + Silent SNP C C T rs137853928 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:18707711C>T ENST00000392386.3 - 5 1039 c.846G>A c.(844-846)gtG>gtA p.V282V NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 282 Fibronectin type-III 2. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 CCTTCCAGTCCACACTGTCCT 0.637000 13 53 0 0 0.00136819 0 0 SLC6A11 6538 broad.mit.edu 37 3 10953791 10953791 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:10953791G>A ENST00000254488.2 + 7 974 c.908G>A c.(907-909)gGa>gAa p.G303E NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 303 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GTAGATGCTGGAACGCAGATC 0.488000 69 160 0 0 0.000781405 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652699 121652699 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:121652699C>T ENST00000393386.2 + 12 4010 c.3599C>T c.(3598-3600)cCa>cTa p.P1200L PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1200 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACTGTTCTTCCAGCTGTGCCC 0.378000 108 82 0 0 0.000781405 0 0 MYH4 4622 broad.mit.edu 37 17 10358326 10358326 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10358326G>A ENST00000255381.2 - 21 2477 c.2367C>T c.(2365-2367)atC>atT p.I789I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 789 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GAGTGCGCGTGATGAGTTGAG 0.458000 22 29 0 0 0.00229938 0 0 SRD5A1 6715 broad.mit.edu 37 5 6633926 6633926 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:6633926C>T ENST00000537411.1 + 1 387 c.263C>T c.(262-264)tCc>tTc p.S88F SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.S88F|SRD5A1_ENST00000274192.5_Silent_p.L79L P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 0 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity p.L79L(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) CCCCGCGTCTCCGCAGCGCGC 0.736000 7 37 0 0 0.000274275 0 0 CFH 3075 broad.mit.edu 37 1 196642210 196642210 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:196642210C>T ENST00000367429.4 + 2 401 c.161C>T c.(160-162)cCt>cTt p.P54L CFH_ENST00000439155.2_Missense_Mutation_p.P54L|CFH_ENST00000359637.2_Missense_Mutation_p.P54L|CFH_ENST00000496761.1_3'UTR NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 54 Sushi 1. RP -> IL (in Ref. 5; CAB41739). complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AAATGCCGCCCTGGATATAGA 0.403000 18 74 0 0 0.00074312 0 0 ITGA4 3676 broad.mit.edu 37 2 182376453 182376453 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:182376453G>A ENST00000397033.2 + 17 2303 c.1873G>A c.(1873-1875)Gaa>Aaa p.E625K NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 625 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TTGTGCCCATGAAAATTGTTC 0.299000 25 42 0 0 0.00127121 0 0 TBX5 6910 broad.mit.edu 37 12 114793644 114793644 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:114793644G>A ENST00000310346.4 - 9 1916 c.1250C>T c.(1249-1251)cCc>cTc p.P417L TBX5_ENST00000349716.5_Missense_Mutation_p.P367L|TBX5_ENST00000405440.2_Missense_Mutation_p.P417L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 417 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCTGTCCATGGGCTGCACGGT 0.662000 19 33 0 0 0.00074312 0 0 PSME2 5721 broad.mit.edu 37 14 24613200 24613200 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24613200G>A ENST00000216802.5 - 9 1175 c.536C>T c.(535-537)tCc>tTc p.S179F PSME2_ENST00000560410.1_Missense_Mutation_p.S168F|PSME2_ENST00000471700.2_Intron NM_002818.2 NP_002809.2 Q9UL46 PSME2_HUMAN proteasome (prosome, macropain) activator subunit 2 (PA28 beta) 179 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) AGTCTCCTTGGAGGCCTTGGC 0.537000 45 101 0 0 0.000781405 0 0 CASKIN2 57513 broad.mit.edu 37 17 73503700 73503700 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:73503700T>A ENST00000321617.3 - 4 795 c.209A>T c.(208-210)gAg>gTg p.E70V CASKIN2_ENST00000433559.2_5'UTR|CASKIN2_ENST00000581870.1_Missense_Mutation_p.E70V NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 70 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCCTGAGCCTCTAGCAGCAA 0.622000 41 13 0 0 0.000781405 0 0 IL1F10 84639 broad.mit.edu 37 2 113831960 113831960 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:113831960G>A ENST00000393197.2 + 2 508 c.87G>A c.(85-87)gtG>gtA p.V29V IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Silent_p.V29V NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 29 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 AGCTGCTGGTGGGAGATCCTG 0.522000 8 44 0 0 0.000442599 0 0 DPYSL4 10570 broad.mit.edu 37 10 134014413 134014413 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:134014413G>A ENST00000338492.4 + 10 1200 c.1036G>A c.(1036-1038)Gac>Aac p.D346N DPYSL4_ENST00000368629.1_Missense_Mutation_p.D246N|DPYSL4_ENST00000368627.1_Missense_Mutation_p.D246N NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 346 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) TGTGGGCAAGGACAACTTCGC 0.647000 15 41 0 0 0.000308642 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890555 63890555 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:63890555G>A ENST00000334025.2 + 4 808 c.482G>A c.(481-483)gGa>gAa p.G161E NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 161 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CCTGGCGGGGGAACCAAGAGT 0.478000 12 34 0 0 0.000422831 0 0 DDI1 414301 broad.mit.edu 37 11 103908105 103908105 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:103908105G>A ENST00000302259.3 + 1 798 c.555G>A c.(553-555)gaG>gaA p.E185E PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 185 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGCTGATGGAGCAGCAAAGGG 0.567000 21 30 0 0 0.00152264 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255455 15255455 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:15255455G>A ENST00000378116.4 - 8 2138 c.2132C>T c.(2131-2133)tCc>tTc p.S711F NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 711 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCCATCCAAGGAGACGAACCA 0.552000 29 36 0 0 0.00178596 0 0 ZC3H18 124245 broad.mit.edu 37 16 88689680 88689680 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:88689680C>T ENST00000301011.5 + 10 1921 c.1721C>T c.(1720-1722)tCc>tTc p.S574F ZC3H18_ENST00000452588.2_Missense_Mutation_p.S598F NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 574 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CGGTCGCGATCCCGGTCTTCA 0.662000 8 27 0 0 0.000442599 0 0 FGFR1 2260 broad.mit.edu 37 8 38287320 38287320 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:38287320G>A ENST00000447712.2 - 3 1179 c.238C>T c.(238-240)Cgc>Tgc p.R80C FGFR1_ENST00000532791.1_Missense_Mutation_p.R80C|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Missense_Mutation_p.R80C|FGFR1_ENST00000335922.5_Missense_Mutation_p.R72C|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397091.5_Missense_Mutation_p.R80C|FGFR1_ENST00000397113.2_Missense_Mutation_p.R80C|FGFR1_ENST00000425967.3_Missense_Mutation_p.R113C|FGFR1_ENST00000341462.5_Missense_Mutation_p.R80C|FGFR1_ENST00000326324.6_Intron NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 80 Ig-like C2-type 1. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CCTGTGATGCGGGTGCGGTTG 0.667000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 5 10 0 0 0.00116845 0 0 DNAH5 1767 broad.mit.edu 37 5 13811764 13811764 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13811764G>A ENST00000265104.4 - 44 7503 c.7399C>T c.(7399-7401)Cct>Tct p.P2467S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2467 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCTTCAGAGGAATCAGGCCT 0.403000 Kartagener syndrome 42 20 0 0 0.000781405 0 0 TTLL4 9654 broad.mit.edu 37 2 219602691 219602691 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:219602691G>A ENST00000392102.1 + 3 632 c.292G>A c.(292-294)Ggc>Agc p.G98S TTLL4_ENST00000442769.1_Missense_Mutation_p.G98S|TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.G98S NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 98 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TGTCATTGCAGGCCACAGCAG 0.567000 33 89 0 0 0.0024448 0 0 CD5 921 broad.mit.edu 37 11 60889214 60889214 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:60889214G>A ENST00000347785.3 + 6 1103 c.937G>A c.(937-939)Gag>Aag p.E313K NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 313 SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) GCTGCGGTGGGAGGAGGTGTG 0.657000 11 17 0 0 0.000978159 0 0 LRFN2 57497 broad.mit.edu 37 6 40399839 40399839 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:40399839G>A ENST00000338305.6 - 2 1556 c.1014C>T c.(1012-1014)gtC>gtT p.V338V NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 338 Ig-like. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CATTGTCATAGACAGCGGTCC 0.602000 15 20 0 0 0.00244969 0 0 FAIM2 23017 broad.mit.edu 37 12 50291358 50291358 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:50291358G>A ENST00000320634.3 - 4 418 c.324C>T c.(322-324)acC>acT p.T108T FAIM2_ENST00000550890.1_Silent_p.T62T NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 108 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 TCAGCAGGATGGTGTAGACCT 0.592000 8 28 0 0 0.000442599 0 0 DLG5 9231 broad.mit.edu 37 10 79603373 79603373 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:79603373G>A ENST00000372391.2 - 6 961 c.956C>T c.(955-957)gCc>gTc p.A319V DLG5_ENST00000372388.2_Missense_Mutation_p.A319V NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 319 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTTCCGAAGGGCGTCATAGTC 0.552000 34 42 0 0 0.000953801 0 0 DEFB132 400830 broad.mit.edu 37 20 238422 238422 + Translation_Start_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:238422G>A ENST00000382376.3 + 1 46 c.3G>A c.(1-3)atG>atA p.M1I NM_207469.2 NP_997352.1 Q7Z7B7 DB132_HUMAN defensin, beta 132 1 defense response to bacterium extracellular region breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 4 CTTCAGCCATGAAGTTCCTGC 0.522000 6 13 0 0 0.000157383 0 0 BAI1 575 broad.mit.edu 37 8 143569868 143569868 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143569868G>A ENST00000517894.1 + 14 3346 c.2452_splice c.e14+1 p.E818_splice BAI1_ENST00000323289.5_Splice_Site_p.E818_splice O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 818 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGGGCTGACAGGTGAGGGGCC 0.652000 7 38 0 0 0.000442599 0 0 HOXD10 3236 broad.mit.edu 37 2 176982051 176982051 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:176982051C>A ENST00000249501.4 + 1 745 c.490C>A c.(490-492)Caa>Aaa p.Q164K HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 164 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CGGGAAAACCCAAGAGTACAA 0.587000 6 143 0.00116845 0.00427116 0.00116845 1 0 MMP19 4327 broad.mit.edu 37 12 56233443 56233443 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56233443G>A ENST00000322569.4 - 5 694 c.603C>T c.(601-603)taC>taT p.Y201Y MMP19_ENST00000548629.1_Silent_p.Y178Y|MMP19_ENST00000409200.3_Intron NM_002429.4 NP_002420.1 Q99542 MMP19_HUMAN matrix metallopeptidase 19 201 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TCACCCCACGGTAGGTCCCCT 0.612000 4 16 0 0 0.000602214 0 0 CENPE 1062 broad.mit.edu 37 4 104067125 104067125 + Missense_Mutation SNP C C T rs113334734 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:104067125C>T ENST00000265148.3 - 30 4363 c.4274G>A c.(4273-4275)gGa>gAa p.G1425E CENPE_ENST00000380026.3_Missense_Mutation_p.G1400E NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1425 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTGGACAATCCGAGCATTTC 0.368000 32 99 0 0 0.0024448 0 0 RASAL1 8437 broad.mit.edu 37 12 113543663 113543663 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113543663G>A ENST00000546530.1 - 17 1974 c.1689C>T c.(1687-1689)ttC>ttT p.F563F RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.F561F|RASAL1_ENST00000548055.1_Silent_p.F562F|RASAL1_ENST00000261729.5_Silent_p.F561F NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 561 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CCGAGGGCGGGAACAGGGCCC 0.622000 22 60 0 0 0.00047179 0 0 SLC1A7 6512 broad.mit.edu 37 1 53553855 53553855 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53553855G>A ENST00000371494.4 - 11 1636 c.1509C>T c.(1507-1509)atC>atT p.I503I SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 503 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GGGCTGCCACGATCTCCTGGA 0.612000 8 21 0 0 0.000157383 0 0 SLC22A9 114571 broad.mit.edu 37 11 63149660 63149660 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:63149660G>A ENST00000279178.3 + 6 1233 c.984G>A c.(982-984)ctG>ctA p.L328L SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 328 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AAAAAGAACTGGAGGCAGCAC 0.408000 18 28 0 0 0.000958276 0 0 LRRC36 55282 broad.mit.edu 37 16 67381445 67381445 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67381445T>A ENST00000329956.6 + 4 458 c.439T>A c.(439-441)Ttt>Att p.F147I LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.F26I|LRRC36_ENST00000435835.3_Missense_Mutation_p.F26I|LRRC36_ENST00000290940.7_5'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 147 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CAAGCTGCATTTTAGTCAGTT 0.378000 29 52 0 0 0.00178596 0 0 NUCB1 4924 broad.mit.edu 37 19 49416799 49416799 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49416799C>T ENST00000405315.4 + 7 1069 c.735C>T c.(733-735)ccC>ccT p.P245P NUCB1_ENST00000263273.5_Silent_p.P245P|NUCB1_ENST00000485798.1_Intron|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Silent_p.P245P NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 245 Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 1. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GGTTTAACCCCAAGACCTTCT 0.562000 35 33 0 0 0.000953801 0 0 WDR96 80217 broad.mit.edu 37 10 105938810 105938810 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105938810C>T ENST00000357060.3 - 19 2552 c.2437G>A c.(2437-2439)Gga>Aga p.G813R WDR96_ENST00000428666.1_Missense_Mutation_p.G814R|WDR96_ENST00000278064.2_Missense_Mutation_p.G744R NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 813 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GATTTGATTCCTTGTTTTATC 0.303000 14 17 0 0 0.000308642 0 0 A2ML1 144568 broad.mit.edu 37 12 8976394 8976394 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8976394G>A ENST00000299698.7 + 3 505 c.325G>A c.(325-327)Gag>Aag p.E109K A2ML1-AS1_ENST00000537288.1_RNA NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CAGCTTTGAGGAGAAGAAAAA 0.502000 30 69 0 0 0.00209593 0 0 BCAS3 54828 broad.mit.edu 37 17 59161840 59161840 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:59161840C>T ENST00000589222.1 + 22 2408 c.2340C>T c.(2338-2340)gtC>gtT p.V780V BCAS3_ENST00000588874.1_Silent_p.V551V|BCAS3_ENST00000408905.3_Silent_p.V780V|BCAS3_ENST00000588462.1_Silent_p.V795V|BCAS3_ENST00000390652.5_Silent_p.V795V|BCAS3_ENST00000407086.3_Silent_p.V780V|BCAS3_ENST00000585744.1_Silent_p.V566V Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 795 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TCCAGCCAGTCCGCTCTGACC 0.478000 13 54 0 0 0.00244969 0 0 HECW2 57520 broad.mit.edu 37 2 197183280 197183280 + Silent SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:197183280A>T ENST00000260983.2 - 9 2516 c.2334T>A c.(2332-2334)acT>acA p.T778T HECW2_ENST00000409111.1_Silent_p.T422T NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 778 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TCCTACCTCCAGTAGCGCCCT 0.582000 28 49 0 0 0.00178596 0 0 DOK6 220164 broad.mit.edu 37 18 67344984 67344984 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:67344984G>A ENST00000382713.5 + 4 494 c.304G>A c.(304-306)Gag>Aag p.E102K DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 102 PH. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GGAGGCCGAGGAGTGGTGCAA 0.532000 21 119 0 0 0.00152264 0 0 ACTG2 72 broad.mit.edu 37 2 74129555 74129555 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:74129555C>T ENST00000409624.1 + 4 838 c.195C>T c.(193-195)atC>atT p.I65I ACTG2_ENST00000409918.1_Silent_p.I65I|ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Silent_p.I65I P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 65 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGCGAGGGATCCTAACTCTCA 0.468000 9 46 0 0 0.000274275 0 0 OTOGL 283310 broad.mit.edu 37 12 80746107 80746107 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:80746107G>A ENST00000458043.2 + 44 5277 c.5271G>A c.(5269-5271)tgG>tgA p.W1757* OTOGL_ENST00000547103.1_Nonsense_Mutation_p.W1745* NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AAAAGATGTGGATCAATTATA 0.358000 6 23 0 0 0.00198382 0 0 NAA16 79612 broad.mit.edu 37 13 41949637 41949637 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:41949637C>T ENST00000379406.3 + 20 2818 c.2494C>T c.(2494-2496)Cct>Tct p.P832S NAA16_ENST00000497143.1_3'UTR NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 832 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 TAACCTGCTTCCTTTTACATC 0.408000 29 32 0 0 0.00209593 0 0 ASZ1 136991 broad.mit.edu 37 7 117060321 117060321 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:117060321T>A ENST00000284629.2 - 4 398 c.336A>T c.(334-336)caA>caT p.Q112H NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 112 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCAAAATACTTTGCTTATCTA 0.358000 15 69 0 0 0.000422831 0 0 NME8 51314 broad.mit.edu 37 7 37916489 37916489 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:37916489G>A ENST00000199447.4 + 12 1246 c.874G>A c.(874-876)Gat>Aat p.D292N EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.D292N NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 292 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity p.D292N(1) CATTGAAGAGGATGCAGCTAA 0.323000 10 56 0 0 0.000673444 0 0 IPO8 10526 broad.mit.edu 37 12 30787023 30787023 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:30787023G>A ENST00000256079.4 - 23 3231 c.2893C>T c.(2893-2895)Ctg>Ttg p.L965L IPO8_ENST00000544829.1_Silent_p.L760L NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 965 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ATACTTATCAGAGCTTGTGTA 0.378000 6 23 0 0 0.00198382 0 0 ZBTB43 23099 broad.mit.edu 37 9 129594917 129594917 + Silent SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:129594917T>A ENST00000373464.4 + 3 393 c.129T>A c.(127-129)atT>atA p.I43I ZBTB43_ENST00000373457.1_Silent_p.I43I|ZBTB43_ENST00000449886.1_Silent_p.I43I NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 43 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AAGGCCACATTTTCCGGGCAC 0.463000 14 53 0 0 0.00185496 0 0 SFTPD 6441 broad.mit.edu 37 10 81701718 81701718 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:81701718C>T ENST00000372292.3 - 5 582 c.542G>A c.(541-543)gGg>gAg p.G181E NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 181 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) ACCTGCTGCCCCTGTGTTTCC 0.652000 17 22 0 0 0.00188189 0 0 ANK3 288 broad.mit.edu 37 10 62023647 62023647 + Silent SNP C C T rs145034480 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:62023647C>T ENST00000280772.1 - 6 836 c.645G>A c.(643-645)acG>acA p.T215T ANK3_ENST00000503366.1_Silent_p.T198T|ANK3_ENST00000373827.2_Silent_p.T209T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 215 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CGGCGGCTTTCGTGTCGTCTT 0.542000 14 20 0 0 0.00244969 0 0 PSMA8 143471 broad.mit.edu 37 18 23713929 23713929 + Translation_Start_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:23713929G>A ENST00000308268.6 + 0 89 PSMA8_ENST00000343848.6_De_novo_Start_InFrame|PSMA8_ENST00000415576.2_De_novo_Start_InFrame NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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 threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) AGTCCTGTGCGATGGCGTCTC 0.602000 23 98 0 0 0.000878237 0 0 KANSL1 284058 broad.mit.edu 37 17 44109612 44109612 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:44109612G>A ENST00000262419.6 - 14 3361 c.2891C>T c.(2890-2892)cCc>cTc p.P964L KANSL1_ENST00000575318.1_Missense_Mutation_p.P900L|KANSL1_ENST00000432791.1_Missense_Mutation_p.P964L|KANSL1_ENST00000393476.3_Missense_Mutation_p.P258L|KANSL1_ENST00000574590.1_Missense_Mutation_p.P964L|KANSL1_ENST00000572904.1_Missense_Mutation_p.P964L NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 964 MLL1 complex protein binding GGGGGTGGAGGGGTTGGCACT 0.582000 65 49 0 0 0.000781405 0 0 SMARCA2 6595 broad.mit.edu 37 9 2081880 2081880 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:2081880G>A ENST00000382203.1 + 15 2442 c.2233G>A c.(2233-2235)Gga>Aga p.G745R SMARCA2_ENST00000349721.2_Missense_Mutation_p.G745R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G745R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G745R P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 745 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CAACTTGAACGGAATCTTAGC 0.423000 15 3 0 0 0.000566183 0 0 COLGALT2 23127 broad.mit.edu 37 1 183938538 183938538 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:183938538G>A ENST00000361927.4 - 5 1068 c.697C>T c.(697-699)Ccc>Tcc p.P233S COLGALT2_ENST00000546159.1_Missense_Mutation_p.P233S NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 TGGACCATGGGGACGGGGAAG 0.522000 22 102 0 0 0.00047179 0 0 RYR2 6262 broad.mit.edu 37 1 237969439 237969439 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:237969439C>T ENST00000366574.2 + 99 14471 c.14154C>T c.(14152-14154)tcC>tcT p.S4718S RYR2_ENST00000542537.1_Silent_p.S4702S|RYR2_ENST00000360064.6_Silent_p.S4724S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4718 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTAATAGTCCTTCCTCTACC 0.398000 7 64 0 0 0.000157383 0 0 USP6 9098 broad.mit.edu 37 17 5074166 5074166 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:5074166G>A ENST00000574788.1 + 36 6140 c.3910G>A c.(3910-3912)Gaa>Aaa p.E1304K USP6_ENST00000250066.6_Missense_Mutation_p.E1304K|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.E987K P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1304 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGACCAAAGAGAAGACACTCA 0.408000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 21 16 0 0 0.00278032 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435377 104435377 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:104435377G>A ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA GGTCAGGAGTGATTCTGAAGC 0.413000 15 29 0 0 0.000422831 0 0 MYH9 4627 broad.mit.edu 37 22 36688254 36688254 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36688254C>T ENST00000216181.5 - 31 4352 c.4122G>A c.(4120-4122)gaG>gaA p.E1374E NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1374 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCACACTGTCCTCCATCTTCT 0.627000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 86 187 0 0 0.000781405 0 0 PRKAG1 5571 broad.mit.edu 37 12 49397341 49397341 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49397341G>A ENST00000548065.1 - 10 1197 c.741_splice c.e10+1 p.I247_splice RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Splice_Site_p.I256_splice|PRKAG1_ENST00000547306.1_Splice_Site_p.I196_splice|PRKAG1_ENST00000395170.3_Splice_Site_p.I163_splice|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000552212.1_Splice_Site_p.I215_splice P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 247 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 AATCACTCACGATAACATCAA 0.532000 7 32 0 0 0.000157383 0 0 ZNF512B 57473 broad.mit.edu 37 20 62599259 62599259 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62599259G>A ENST00000450537.1 - 2 105 c.45C>T c.(43-45)tcC>tcT p.S15S ZNF512B_ENST00000217130.3_Silent_p.S15S|ZNF512B_ENST00000369888.1_Silent_p.S15S Q96KM6 Z512B_HUMAN zinc finger protein 512B 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CACTCTTGCTGGACCCCGGGA 0.597000 47 45 0 0 0.000781405 0 0 WNT10B 7480 broad.mit.edu 37 12 49360220 49360220 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49360220C>T ENST00000301061.4 - 5 1176 c.828G>A c.(826-828)agG>agA p.R276R WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 276 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 CCAGCCGCTCCCTCAACGCCG 0.632000 37 25 0 0 0.00128727 0 0 NPY1R 4886 broad.mit.edu 37 4 164246629 164246629 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:164246629G>A ENST00000296533.2 - 3 1512 c.981C>T c.(979-981)ttC>ttT p.F327F NPY1R_ENST00000509586.1_Silent_p.F84F NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 327 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.F327F(1) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AGTCTCTCTGGAAGTTTTTGT 0.433000 14 49 0 0 0.000422831 0 0 C1orf94 84970 broad.mit.edu 37 1 34667830 34667830 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34667830C>T ENST00000488417.1 + 4 1536 c.1416C>T c.(1414-1416)ttC>ttT p.F472F C1orf94_ENST00000373374.3_Silent_p.F282F NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 282 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CACCAGTGTTCACGAATCACT 0.547000 29 93 0 0 0.00058488 0 0 CCDC180 100499483 broad.mit.edu 37 9 100090419 100090419 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:100090419C>T ENST00000375202.2 + 30 3263 c.1911C>T c.(1909-1911)atC>atT p.I637I CCDC180_ENST00000529487.1_Silent_p.I637I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.I634I|CCDC180_ENST00000357054.1_Silent_p.I776I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR coiled-coil domain containing 180 TGCGTGAAATCTTTGAACAGG 0.478000 26 61 0 0 0.000878237 0 0 GPR123 84435 broad.mit.edu 37 10 134893869 134893869 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:134893869C>T ENST00000607359.1 + 4 814 c.814C>T c.(814-816)Cga>Tga p.R272* Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 324 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GGCTGACCCTCGAAGATGCTC 0.692000 5 6 0 0 0.00116845 0 0 NLRC5 84166 broad.mit.edu 37 16 57059746 57059746 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:57059746G>A ENST00000436936.1 + 6 1116 c.891G>A c.(889-891)aaG>aaA p.K297K NLRC5_ENST00000308149.7_Silent_p.K297K|NLRC5_ENST00000262510.6_Silent_p.K297K|NLRC5_ENST00000539144.1_Silent_p.K297K Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 297 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) ACCTGGAGAAGAACGCTGACC 0.552000 27 67 0 0 0.00178596 0 0 KLRF1 51348 broad.mit.edu 37 12 9997066 9997066 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:9997066G>A ENST00000279544.3 + 6 704 c.640G>A c.(640-642)Gaa>Aaa p.E214K KLRF1_ENST00000537723.1_3'UTR|KLRF1_ENST00000354855.3_3'UTR|KLRF1_ENST00000324214.4_Missense_Mutation_p.E164K NM_016523.1 NP_057607.1 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 214 C-type lectin. cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 TGCCATTAAGGAAAGCAAAAT 0.353000 11 2 0 0 0.00185496 0 0 FMO3 2328 broad.mit.edu 37 1 171083175 171083175 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171083175G>A ENST00000367755.4 + 7 967 c.856G>A c.(856-858)Gat>Aat p.D286N FMO3_ENST00000392085.2_Missense_Mutation_p.D286N|FMO3_ENST00000542847.1_Missense_Mutation_p.D266N|FMO3_ENST00000538429.1_Missense_Mutation_p.D223N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 286 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity 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) TGTATTTAACGATGAGCTCCC 0.408000 6 43 0 0 0.00198382 0 0 SOGA3 387104 broad.mit.edu 37 6 127837547 127837547 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:127837547C>T ENST00000556132.1 - 2 1077 c.213G>A c.(211-213)cgG>cgA p.R71R SOGA3_ENST00000465909.2_Silent_p.R71R|SOGA3_ENST00000368268.2_Silent_p.R71R|SOGA3_ENST00000525778.1_Silent_p.R71R|SOGA3_ENST00000481848.2_Silent_p.R71R NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 71 integral to membrane gctgctgctgcCGAACAGAAT 0.672000 18 14 0 0 0.00152264 0 0 OR6C3 254786 broad.mit.edu 37 12 55725853 55725853 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55725853C>T ENST00000379667.1 + 1 369 c.369C>T c.(367-369)atC>atT p.I123I NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 ATGTTGCCATCTGCAAGCCCC 0.458000 69 39 0 0 0.000781405 0 0 KCNK10 54207 broad.mit.edu 37 14 88652155 88652155 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:88652155G>A ENST00000340700.5 - 7 1792 c.1341C>T c.(1339-1341)ttC>ttT p.F447F KCNK10_ENST00000319231.5_Silent_p.F452F|KCNK10_ENST00000312350.5_Silent_p.F452F NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 447 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGGTGGACCCGAACTTGTTGA 0.542000 31 122 0 0 0.0024448 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190707 209190707 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:209190707C>T ENST00000264380.4 + 20 3330 c.3172C>T c.(3172-3174)Cca>Tca p.P1058S NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1058 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CTGTATCTCCCCAGTAATCAC 0.408000 42 54 0 0 0.00222228 0 0 TRIM29 23650 broad.mit.edu 37 11 119986080 119986080 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:119986080G>A ENST00000341846.5 - 8 2091 c.1670C>T c.(1669-1671)cCc>cTc p.P557L TRIM29_ENST00000524816.3_Missense_Mutation_p.P123L|TRIM29_ENST00000541857.1_Missense_Mutation_p.P290L|TRIM29_ENST00000529044.1_Missense_Mutation_p.P296L|TRIM29_ENST00000528870.1_Missense_Mutation_p.P90L|TRIM29_ENST00000525887.1_5'UTR NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 557 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CCAAGTCTGGGGCTGGGCCTT 0.627000 17 30 0 0 0.00278032 0 0 EFCAB6 64800 broad.mit.edu 37 22 44074038 44074038 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:44074038G>A ENST00000358439.4 - 9 901 c.719C>T c.(718-720)cCg>cTg p.P240L EFCAB6_ENST00000396231.2_Silent_p.P267P|EFCAB6_ENST00000262726.7_Silent_p.P419P Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TCGGTCCATCGGGTTTCTGAG 0.318000 21 71 0 0 0.00152264 0 0 SALL3 27164 broad.mit.edu 37 18 76755226 76755226 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:76755226C>T ENST00000536229.3 + 2 3329 c.2620C>T c.(2620-2622)Ccg>Tcg p.P874S SALL3_ENST00000575389.2_Missense_Mutation_p.P1007S|SALL3_ENST00000537592.2_Missense_Mutation_p.P1079S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1079 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGAGGGTCCCCCGCTGCCCGC 0.711000 8 30 0 0 0.000157383 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723606 140723606 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140723606C>T ENST00000253812.6 + 1 6 c.6C>T c.(4-6)acC>acT p.T2T PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAAATGACCAATTGCCTGA 0.517000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 135 0 0 0.000781405 0 0 ARMC4 55130 broad.mit.edu 37 10 28151526 28151526 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:28151526A>T ENST00000305242.5 - 18 2728 c.2636T>A c.(2635-2637)tTt>tAt p.F879Y ARMC4_ENST00000537576.1_Missense_Mutation_p.F571Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.F404Y NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 879 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACCACCAACAAAGGAACGAAC 0.348000 9 10 0 0 0.000442599 0 0 NACC1 112939 broad.mit.edu 37 19 13246315 13246315 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:13246315C>T ENST00000292431.4 + 2 420 c.294C>T c.(292-294)ttC>ttT p.F98F NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 98 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 GCGACCAGTTCCTGCTCATGT 0.627000 14 23 0 0 0.00244969 0 0 C3orf62 375341 broad.mit.edu 37 3 49314265 49314265 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49314265G>A ENST00000343010.3 - 1 1077 c.41C>T c.(40-42)tCt>tTt p.S14F NM_198562.2 NP_940964.1 Q6ZUJ4 CC062_HUMAN chromosome 3 open reading frame 62 14 breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TAGTTTTTCAGACATTTCTCC 0.448000 10 52 0 0 0.000978159 0 0 ALS2 57679 broad.mit.edu 37 2 202568857 202568857 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:202568857G>A ENST00000264276.6 - 33 5295 c.4923C>T c.(4921-4923)ttC>ttT p.F1641F ALS2_ENST00000457679.2_3'UTR NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1641 VPS9. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TCAAGGTGGTGAACATTATAC 0.368000 13 42 0 0 0.00185496 0 0 PCSK5 5125 broad.mit.edu 37 9 78601055 78601055 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78601055G>A ENST00000545128.1 + 3 843 c.305G>A c.(304-306)tGg>tAg p.W102* PCSK5_ENST00000376752.4_Nonsense_Mutation_p.W102*|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.W102* NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 102 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CAGGTGGAATGGATCCAACAG 0.448000 18 65 0 0 0.000958276 0 0 ASTL 431705 broad.mit.edu 37 2 96789615 96789615 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:96789615G>A ENST00000342380.2 - 9 1269 c.1270C>T c.(1270-1272)Cat>Tat p.H424Y NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 424 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CCCTTGAAATGATTTCTAGGT 0.577000 27 51 0 0 0.00178596 0 0 DDX41 51428 broad.mit.edu 37 5 176941768 176941768 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:176941768G>A ENST00000507955.1 - 9 1392 c.869C>T c.(868-870)cCa>cTa p.P290L NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 290 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GCGCAGGAGTGGTGAGCTGTC 0.657000 41 68 0 0 0.00222228 0 0 CXorf22 170063 broad.mit.edu 37 X 35971789 35971789 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:35971789G>A ENST00000297866.5 + 7 1193 c.1127G>A c.(1126-1128)gGa>gAa p.G376E NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 376 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GAGTCCGTAGGAAGTAAAGAT 0.323000 34 1 0 0 0.00058488 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600253 41600253 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41600253C>T ENST00000330436.3 + 7 1077 c.1077C>T c.(1075-1077)atC>atT p.I359I NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 359 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TCCACGAGATCCAAAGATTTG 0.552000 21 61 0 0 0.00229938 0 0 OR4X2 119764 broad.mit.edu 37 11 48266932 48266932 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:48266932C>T ENST00000302329.3 + 1 325 c.277C>T c.(277-279)Ctt>Ttt p.L93F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CATGGCACAGCTTTTCTTCTT 0.517000 19 38 0 0 0.00188189 0 0 DLL4 54567 broad.mit.edu 37 15 41228589 41228589 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:41228589C>T ENST00000249749.5 + 9 1680 c.1404C>T c.(1402-1404)gcC>gcT p.A468A NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 468 EGF-like 7. blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCTGCCCTGCCGGCTTCTCTG 0.627000 15 2 0 0 0.000422831 0 0 SAA2 6289 broad.mit.edu 37 11 18269491 18269491 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:18269491G>A ENST00000414546.2 - 2 112 c.68C>T c.(67-69)tCg>tTg p.S23L SAA2_ENST00000530400.1_Missense_Mutation_p.S23L|SAA2_ENST00000526900.1_Missense_Mutation_p.S23L|SAA2_ENST00000256733.4_Missense_Mutation_p.S23L|SAA2_ENST00000529528.1_Missense_Mutation_p.S23L|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Missense_Mutation_p.S23L NM_001127380.2 NP_001120852.1 serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 GCCAAGGAACGAAAAGAAGCT 0.498000 19 23 0 0 0.00047179 0 0 RYR3 6263 broad.mit.edu 37 15 33855043 33855043 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:33855043C>T ENST00000389232.4 + 11 1048 c.978C>T c.(976-978)ctC>ctT p.L326L RYR3_ENST00000415757.3_Silent_p.L326L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 326 MIR 4. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.L326L(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATTAGGAACTCAAGGAGAAAT 0.388000 8 9 0 0 0.000157383 0 0 CCDC147 159686 broad.mit.edu 37 10 106163596 106163596 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:106163596G>A ENST00000369704.3 + 14 2283 c.2149G>A c.(2149-2151)Gag>Aag p.E717K NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 717 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAGGAAGCTCGAGGTAACATC 0.507000 3 4 0 0 6.4e-05 0 0 POLR2B 5431 broad.mit.edu 37 4 57860960 57860960 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:57860960T>A ENST00000381227.1 + 6 917 c.504T>A c.(502-504)gaT>gaA p.D168E POLR2B_ENST00000314595.5_Missense_Mutation_p.D168E|POLR2B_ENST00000431623.2_Missense_Mutation_p.D93E|POLR2B_ENST00000441246.2_Missense_Mutation_p.D161E P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 168 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 binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GCTTGACAGATCGTGATCTTT 0.338000 32 35 0 0 0.00111076 0 0 C6 729 broad.mit.edu 37 5 41201788 41201788 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41201788C>T ENST00000263413.3 - 3 436 c.172G>A c.(172-174)Gaa>Aaa p.E58K C6_ENST00000337836.5_Missense_Mutation_p.E58K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 58 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAAAAGTTTTCCTGGTAGTAC 0.408000 8 39 0 0 0.000274275 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957327 35957327 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35957327C>T ENST00000274278.3 - 5 1395 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.V346V|UGT3A1_ENST00000507113.1_Silent_p.V312V NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 346 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCACAATTTTCACATTTGTGG 0.488000 12 28 0 0 0.00244969 0 0 NANOGP1 404635 broad.mit.edu 37 12 8048091 8048091 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8048091C>T ENST00000607111.1 + 0 19 kidney(1)|lung(4)|prostate(1) 6 CTTCCTTCCTCCATGGATCTG 0.378000 20 68 0 0 0.00229938 0 0 TRIO 7204 broad.mit.edu 37 5 14387901 14387901 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:14387901C>A ENST00000344204.4 + 23 3850 c.3826C>A c.(3826-3828)Cga>Aga p.R1276R TRIO_ENST00000537187.1_Silent_p.R1276R|TRIO_ENST00000509967.2_Silent_p.R1227R NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1276 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 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) GGTGAAACTTCGAGATGCTGC 0.433000 28 31 5.91797e-21 2.18838e-20 0.0024448 1 0 EDA 1896 broad.mit.edu 37 X 69255270 69255270 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:69255270C>T ENST00000374552.4 + 8 1229 c.987C>T c.(985-987)ttC>ttT p.F329F EDA_ENST00000374553.2_Silent_p.F327F|EDA_ENST00000524573.1_Silent_p.F324F NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 329 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 AGAAGCCCTTCCTGCAGTGCA 0.547000 9 12 0 0 0.000442599 0 0 FCAMR 83953 broad.mit.edu 37 1 207133109 207133109 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207133109G>A ENST00000400962.3 - 7 1102 c.686C>T c.(685-687)cCc>cTc p.P229L FCAMR_ENST00000324852.4_Silent_p.T496T|FCAMR_ENST00000450945.2_Missense_Mutation_p.P229L|FCAMR_ENST00000486178.1_5'UTR NM_001122979.2|NM_032029.4 NP_001116451.1|NP_114418.2 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 370 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 CAGGAGCCAGGGTCCGAGAGC 0.517000 43 190 0 0 0.000781405 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959969 157959969 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:157959969G>A ENST00000389413.3 - 6 667 c.564C>T c.(562-564)ttC>ttT p.F188F PTPRN2_ENST00000389418.4_Silent_p.F188F|PTPRN2_ENST00000389416.4_Silent_p.F171F|PTPRN2_ENST00000404321.2_Silent_p.F211F|PTPRN2_ENST00000409483.1_Silent_p.F150F NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 188 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGCTCTCGGAGAAGCGGTCAT 0.607000 25 86 0 0 0.00209593 0 0 CDH6 1004 broad.mit.edu 37 5 31322980 31322980 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:31322980C>T ENST00000265071.2 + 12 2203 c.1938C>T c.(1936-1938)atC>atT p.I646I NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 646 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGCCTTTGATCATTTCCAAAG 0.463000 22 47 0 0 0.00047179 0 0 CAD 790 broad.mit.edu 37 2 27465189 27465189 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:27465189G>A ENST00000264705.4 + 40 6278 c.6116G>A c.(6115-6117)cGg>cAg p.R2039Q CAD_ENST00000403525.1_Missense_Mutation_p.R1976Q NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2039 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AAGCACTGCCGGAGGCCAGTG 0.617000 18 40 0 0 0.000958276 0 0 KIAA0586 9786 broad.mit.edu 37 14 58949281 58949281 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:58949281C>T ENST00000423743.3 + 22 3121 c.2863C>T c.(2863-2865)Cct>Tct p.P955S KIAA0586_ENST00000556134.1_Missense_Mutation_p.P984S|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P1052S|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P923S NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 923 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGCTGGTGTTCCTGTGAACTC 0.423000 9 46 0 0 0.000274275 0 0 LRP8 7804 broad.mit.edu 37 1 53726184 53726184 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53726184T>C ENST00000306052.6 - 13 2109 c.2008A>G c.(2008-2010)Aac>Gac p.N670D LRP8_ENST00000347547.2_Missense_Mutation_p.N500D|LRP8_ENST00000371454.2_Missense_Mutation_p.N670D|LRP8_ENST00000465675.1_Missense_Mutation_p.N223D|LRP8_ENST00000354412.3_Missense_Mutation_p.N541D|LRP8_ENST00000460214.1_5'UTR NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 670 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TGTGGGTTGTTGAGGTTCTCA 0.537000 59 57 0 0 0.000781405 0 0 IWS1 55677 broad.mit.edu 37 2 128262941 128262941 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:128262941G>A ENST00000295321.4 - 3 797 c.538C>T c.(538-540)Cct>Tct p.P180S IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P187S|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 180 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTGATTTGAGGTTTTAGAGCA 0.488000 76 106 0 0 0.000781405 0 0 APOL5 80831 broad.mit.edu 37 22 36122392 36122392 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36122392G>A ENST00000249044.2 + 3 277 c.277G>A c.(277-279)Gga>Aga p.G93R NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 93 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CATGCCAGATGGAAATCTGTC 0.413000 37 125 0 0 0.000953801 0 0 MROH2B 133558 broad.mit.edu 37 5 41018473 41018473 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41018473G>A ENST00000399564.4 - 27 3183 c.2733C>T c.(2731-2733)atC>atT p.I911I MROH2B_ENST00000506092.2_Silent_p.I466I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTTTCGCAGTGATCTGGAAGG 0.393000 5 27 0 0 0.000602214 0 0 SF3B1 23451 broad.mit.edu 37 2 198270043 198270043 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:198270043G>A ENST00000335508.5 - 10 1484 c.1393C>T c.(1393-1395)Cca>Tca p.P465S NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 465 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTTAAAAATGGAAGATTTCCA 0.338000 Mis myelodysplastic syndrome 9 56 0 0 0.000442599 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 59 0 0 0.00198382 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317962 77317962 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:77317962G>A ENST00000282849.5 - 23 3975 c.3557C>T c.(3556-3558)cCa>cTa p.P1186L RP11-538I12.3_ENST00000561672.1_RNA NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1186 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TACGCAGGATGGATCCTCTAA 0.393000 14 54 0 0 0.000308642 0 0 VCAM1 7412 broad.mit.edu 37 1 101186048 101186048 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:101186048C>T ENST00000294728.2 + 2 182 c.81C>T c.(79-81)atC>atT p.I27I VCAM1_ENST00000347652.2_Silent_p.I27I|VCAM1_ENST00000370115.1_Silent_p.I27I|VCAM1_ENST00000370119.4_Silent_p.I27I NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 27 Ig-like C2-type 1. 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.I27M(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) CTTTTAAAATCGAGACCACCC 0.408000 9 65 0 0 0.000673444 0 0 USP7 7874 broad.mit.edu 37 16 8988680 8988680 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:8988680G>A ENST00000344836.4 - 29 3270 c.3072C>T c.(3070-3072)atC>atT p.I1024I USP7_ENST00000535863.1_Silent_p.I925I|USP7_ENST00000381886.4_Silent_p.I1008I NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 1024 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GCAGGCTCTGGATTCGCTTCA 0.592000 31 90 0 0 0.0024448 0 0 SVEP1 79987 broad.mit.edu 37 9 113169812 113169812 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:113169812C>T ENST00000401783.2 - 38 8404 c.8068G>A c.(8068-8070)Gaa>Aaa p.E2690K SVEP1_ENST00000297826.5_Missense_Mutation_p.E616K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2667K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2690 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCCAGAAGTTCATATCCTGGA 0.453000 49 160 0 0 0.000781405 0 0 PPRC1 23082 broad.mit.edu 37 10 103899845 103899845 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:103899845C>T ENST00000278070.2 + 5 1619 c.1580C>T c.(1579-1581)gCc>gTc p.A527V PPRC1_ENST00000413464.2_Missense_Mutation_p.A527V NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGGGCTCGGGCCTGGGCAGCT 0.542000 24 39 0 0 0.000878237 0 0 THADA 63892 broad.mit.edu 37 2 43625187 43625187 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:43625187G>A ENST00000405006.4 - 29 4501 c.4150C>T c.(4150-4152)Cga>Tga p.R1384* THADA_ENST00000330266.7_Intron|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Nonsense_Mutation_p.R1065*|THADA_ENST00000405975.2_Nonsense_Mutation_p.R1384* NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1384 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AACAGAGTTCGAATGGTATTA 0.493000 325 376 0 0 0.000781405 0 0 ABCC8 6833 broad.mit.edu 37 11 17418804 17418804 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:17418804C>T ENST00000302539.4 - 32 4052 c.3927G>A c.(3925-3927)ctG>ctA p.L1309L ABCC8_ENST00000389817.3_Silent_p.L1308L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1308 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCACAGCCCCCAGCTGGAGCT 0.612000 43 57 0 0 0.0025221 0 0 NOTCH4 4855 broad.mit.edu 37 6 32189026 32189026 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32189026G>A ENST00000375023.3 - 4 666 c.528C>T c.(526-528)ccC>ccT p.P176P NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 176 EGF-like 4. 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 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 ACTGGATCTGGGGGTATGTGG 0.612000 150 174 0 0 0.000781405 0 0 MYH1 4619 broad.mit.edu 37 17 10395868 10395868 + Silent SNP G G C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10395868G>C ENST00000226207.5 - 40 5779 c.5685C>G c.(5683-5685)gtC>gtG p.V1895V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1895 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGAGAGGTTGACGTTGGATT 0.473000 23 30 0 0 0.00278032 0 0 FAM188A 80013 broad.mit.edu 37 10 15838110 15838110 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:15838110T>A ENST00000378036.1 - 2 1235 c.59A>T c.(58-60)tAc>tTc p.Y20F FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.Y315F Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 315 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 TTCTGGGTCGTAGGTTTGAAA 0.358000 16 32 0 0 0.000422831 0 0 TBC1D15 64786 broad.mit.edu 37 12 72316796 72316796 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:72316796C>T ENST00000550746.1 + 18 1952 c.1888C>T c.(1888-1890)Ctt>Ttt p.L630F TBC1D15_ENST00000485960.2_Missense_Mutation_p.L613F|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L384F|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L621F NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 630 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GATCCTTGGGCTTCAAGGCAG 0.398000 22 47 0 0 0.00229938 0 0 AGO1 26523 broad.mit.edu 37 1 36359751 36359751 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:36359751C>T ENST00000373204.4 + 6 976 c.763C>T c.(763-765)Cgc>Tgc p.R255C AGO1_ENST00000373206.1_Missense_Mutation_p.R180C NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TCAGCGCGTTCGCTTCACCAA 0.547000 29 32 0 0 0.000878237 0 0 CAPN10 11132 broad.mit.edu 37 2 241528788 241528788 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:241528788C>T ENST00000391984.2 + 2 366 c.170C>T c.(169-171)cCa>cTa p.P57L CAPN10_ENST00000270364.7_Missense_Mutation_p.P57L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.P57L|CAPN10_ENST00000404753.3_Missense_Mutation_p.P57L|CAPN10_ENST00000391982.2_Missense_Mutation_p.P57L NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 57 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CGGCTGTTTCCAGATGACCCA 0.577000 37 166 0 0 0.00148497 0 0 CALR3 125972 broad.mit.edu 37 19 16590049 16590049 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:16590049C>T ENST00000269881.3 - 9 1110 c.1048G>A c.(1048-1050)Gag>Aag p.E350K CTD-3222D19.2_ENST00000409035.1_3'UTR NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 350 C-domain.|Glu/Lys-rich. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 TTCATTTCCTCCTTGGCCTGT 0.498000 32 132 0 0 0.0024448 0 0 CA8 767 broad.mit.edu 37 8 61135273 61135273 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:61135273G>A ENST00000317995.4 - 7 937 c.673C>T c.(673-675)Cca>Tca p.P225S CA8_ENST00000528666.1_5'UTR NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 225 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CTGCAAGGTGGGATGGTGAGA 0.458000 41 26 0 0 0.0025221 0 0 VAT1L 57687 broad.mit.edu 37 16 77859274 77859274 + Silent SNP C C T rs149678482 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:77859274C>T ENST00000302536.2 + 3 648 c.495C>T c.(493-495)ttC>ttT p.F165F NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 165 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 CCATGAACTTCGTCACAGCCT 0.552000 15 4 0 0 0.00244969 0 0 FAM13B 51306 broad.mit.edu 37 5 137289982 137289982 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:137289982G>A ENST00000033079.3 - 14 1976 c.1525C>T c.(1525-1527)Cat>Tat p.H509Y FAM13B_ENST00000420893.2_Missense_Mutation_p.H509Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.H413Y NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 509 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 AAGGGGTGATGATTCATTCTT 0.448000 14 42 0 0 0.00244969 0 0 VOPP1 81552 broad.mit.edu 37 7 55560099 55560099 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:55560099C>T ENST00000285279.5 - 4 404 c.204G>A c.(202-204)atG>atA p.M68I VOPP1_ENST00000545390.1_Missense_Mutation_p.M65I|VOPP1_ENST00000428648.1_Start_Codon_SNP_p.M1I|VOPP1_ENST00000428097.1_Start_Codon_SNP_p.M1I|VOPP1_ENST00000433959.1_Missense_Mutation_p.M59I|VOPP1_ENST00000454227.1_Missense_Mutation_p.M5I|VOPP1_ENST00000427700.1_Missense_Mutation_p.M66I|VOPP1_ENST00000453256.1_Start_Codon_SNP_p.M1I|VOPP1_ENST00000418904.1_Missense_Mutation_p.M51I NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 GCACGCCCATCATCAGAAGGA 0.617000 4 19 0 0 0.000602214 0 0 SUPT5H 6829 broad.mit.edu 37 19 39957154 39957154 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:39957154C>T ENST00000599117.1 + 13 1278 c.911C>T c.(910-912)tCc>tTc p.S304F SUPT5H_ENST00000432763.2_Missense_Mutation_p.S304F|SUPT5H_ENST00000359191.6_Missense_Mutation_p.S300F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.S300F|SUPT5H_ENST00000598725.1_Missense_Mutation_p.S304F O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 304 KOW 1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AACACCATCTCCCTGAAGATG 0.617000 26 46 0 0 0.000878237 0 0 STARD6 147323 broad.mit.edu 37 18 51851088 51851088 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:51851088C>T ENST00000581310.1 - 9 1010 c.637G>A c.(637-639)Gga>Aga p.G213R STARD6_ENST00000580990.2_Missense_Mutation_p.G89R|STARD6_ENST00000307844.3_Missense_Mutation_p.G213R P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 213 lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) TGATGAAATCCACGTCTTGAT 0.358000 19 82 0 0 0.00278032 0 0 NTMT1 28989 broad.mit.edu 37 9 132397675 132397675 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:132397675C>T ENST00000372486.1 + 4 953 c.604C>T c.(604-606)Ctg>Ttg p.L202L NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372483.4_Silent_p.L202L|NTMT1_ENST00000482347.1_Silent_p.L114L|NTMT1_ENST00000372480.1_Silent_p.L202L N-terminal Xaa-Pro-Lys N-methyltransferase 1 CCTCAGCCTCCTGGCCGAGGA 0.617000 53 73 0 0 0.000781405 0 0 CELA1 1990 broad.mit.edu 37 12 51733658 51733658 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:51733658G>A ENST00000293636.1 - 6 635 c.595C>T c.(595-597)Cgc>Tgc p.R199C NM_001971.5 NP_001962.3 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 199 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 CATCCAGAGCGAACTCCATCT 0.602000 9 33 0 0 0.000442599 0 0 SON 6651 broad.mit.edu 37 21 34927484 34927484 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:34927484C>T ENST00000356577.4 + 3 6422 c.5947C>T c.(5947-5949)Cgc>Tgc p.R1983C SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1983C|SON_ENST00000290239.6_Missense_Mutation_p.R1983C|SON_ENST00000300278.4_Missense_Mutation_p.R1983C NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1983 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 cacccccagccgccggagccg 0.711000 11 21 0 0 0.000673444 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318927 21318927 + Silent SNP C C T rs142326096 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:21318927C>T ENST00000583088.1 + 3 1168 c.273C>T c.(271-273)ttC>ttT p.F91F KCNJ12_ENST00000331718.5_Silent_p.F91F NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CGCTGGCCTTCCTTGCCTCCT 0.622000 Prostate(3;0.18) 6 34 0 0 0.00116845 0 0 ATP1A2 477 broad.mit.edu 37 1 160105280 160105280 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160105280G>A ENST00000361216.3 + 16 2261 c.2172G>A c.(2170-2172)aaG>aaA p.K724K ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.K724K NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 724 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CATTGAAGAAGGCTGACATTG 0.582000 17 96 0 0 0.000958276 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967326 142967326 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:142967326G>A ENST00000370494.1 + 1 154 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 42 acid-amino acid ligase activity p.E42K(1) breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CATTGCTGGGGAATCAAAGGA 0.473000 43 37 0 0 0.00285205 0 0 CCDC157 550631 broad.mit.edu 37 22 30770064 30770064 + Silent SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30770064C>G ENST00000405659.1 + 9 2365 c.1656C>G c.(1654-1656)acC>acG p.T552T CCDC157_ENST00000338306.3_Silent_p.T552T Q569K6 CC157_HUMAN coiled-coil domain containing 157 552 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 ACAGGCCCACCGAGACCCAGA 0.667000 18 8 0 0 0.000566183 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033225 52033225 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:52033225G>A ENST00000346477.3 - 4 785 c.717C>T c.(715-717)atC>atT p.I239I SIGLEC6_ENST00000391797.3_Silent_p.I244I|SIGLEC6_ENST00000425629.3_Silent_p.I255I|SIGLEC6_ENST00000436458.1_Silent_p.I203I|SIGLEC6_ENST00000343300.4_Silent_p.I255I|SIGLEC6_ENST00000359982.4_Silent_p.I266I NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 255 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTTTTGCAGGATTTTGAAGG 0.592000 22 102 0 0 0.00047179 0 0 CACNA1B 774 broad.mit.edu 37 9 141010018 141010018 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:141010018C>T ENST00000277549.5 + 42 5815 c.3246C>T c.(3244-3246)tcC>tcT p.S1082S CACNA1B_ENST00000371355.4_Silent_p.S1889S|CACNA1B_ENST00000371357.1_Silent_p.S1887S|CACNA1B_ENST00000371363.1_Silent_p.S1886S|CACNA1B_ENST00000371372.1_Silent_p.S1888S|CACNA1B_ENST00000277551.2_Silent_p.S1888S Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1888 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTCCTGTGTCCCTGTTCCACC 0.602000 58 84 0 0 0.000781405 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30881844 30881844 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:30881844G>A ENST00000251071.5 - 8 2270 c.1520C>T c.(1519-1521)cCa>cTa p.P507L CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P174L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P507L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P507L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P507L NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 507 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTGCTTCTTTGGATCTTGTTC 0.453000 47 30 0 0 0.0025221 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54933883 54933883 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:54933883C>T ENST00000474759.1 + 27 2485 c.2437C>T c.(2437-2439)Cct>Tct p.P813S CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P719S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P813S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P813S NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 813 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACGGAAATCTCCTGTGGTGGC 0.453000 5 9 0 0 0.00116845 0 0 DNM1 1759 broad.mit.edu 37 9 130982548 130982548 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:130982548C>T ENST00000341179.7 + 6 869 c.777C>T c.(775-777)ttC>ttT p.F259F DNM1_ENST00000486160.1_Silent_p.F259F|DNM1_ENST00000475805.1_Silent_p.F259F|DNM1_ENST00000393594.3_Silent_p.F259F|DNM1_ENST00000372923.3_Silent_p.F259F NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 259 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GAAAGTTCTTCCTCTCCCATC 0.557000 32 120 0 0 0.00058488 0 0 WWC1 23286 broad.mit.edu 37 5 167868776 167868776 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:167868776G>A ENST00000265293.4 + 16 2872 c.2370G>A c.(2368-2370)aaG>aaA p.K790K WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.K790K NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 790 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AATACTTGAAGAAACAGAGCA 0.622000 12 28 0 0 0.00136819 0 0 GPHN 10243 broad.mit.edu 37 14 67525457 67525457 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:67525457C>T ENST00000478722.1 + 11 2219 c.1098C>T c.(1096-1098)gtC>gtT p.V366V GPHN_ENST00000315266.5_Silent_p.V333V|GPHN_ENST00000305960.9_Silent_p.V302V|GPHN_ENST00000543237.1_Silent_p.V379V|GPHN_ENST00000459628.1_Silent_p.V348V|GPHN_ENST00000544752.2_3'UTR NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 333 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TTATCACAGTCCTGGAGATGA 0.418000 T MLL AL 39 127 0 0 0.00128727 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94879550 94879550 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:94879550C>T ENST00000289495.5 + 8 2529 c.2313C>T c.(2311-2313)atC>atT p.I771I PPP1R9A_ENST00000433881.1_Silent_p.I771I|PPP1R9A_ENST00000433360.1_Silent_p.I793I|PPP1R9A_ENST00000456331.2_Silent_p.I771I|PPP1R9A_ENST00000424654.1_Silent_p.I771I|PPP1R9A_ENST00000340694.4_Silent_p.I771I NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 771 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGAAGTTGATCAAGGATTTTC 0.353000 HNSCC(28;0.073) 34 14 0 0 0.000814825 0 0 PCSK5 5125 broad.mit.edu 37 9 78638698 78638698 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78638698C>T ENST00000545128.1 + 4 994 c.456C>T c.(454-456)atC>atT p.I152I PCSK5_ENST00000376752.4_Silent_p.I152I|PCSK5_ENST00000376767.3_Silent_p.I152I NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 152 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ACATGAATATCGAAGGAGCCT 0.448000 25 43 0 0 0.00047179 0 0 KMT2A 4297 broad.mit.edu 37 11 118365450 118365450 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:118365450C>T ENST00000534358.1 + 18 5354 c.5331C>T c.(5329-5331)tcC>tcT p.S1777S KMT2A_ENST00000354520.4_Silent_p.S1736S|KMT2A_ENST00000389506.5_Silent_p.S1774S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCAAAAAGTCCAGGTTTTGGG 0.328000 17 31 0 0 0.00152264 0 0 MYO18B 84700 broad.mit.edu 37 22 26422532 26422532 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26422532C>T ENST00000335473.7 + 43 6842 c.6592C>T c.(6592-6594)Cgc>Tgc p.R2198C MYO18B_ENST00000407587.2_Missense_Mutation_p.R2199C|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2198C NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2198 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCACTTTGTCCGCCGGCAAAA 0.567000 17 135 0 0 0.000958276 0 0 ELTD1 64123 broad.mit.edu 37 1 79387305 79387305 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:79387305G>A ENST00000370742.3 - 9 1313 c.1250C>T c.(1249-1251)cCt>cTt p.P417L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 417 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TACAATGGAAGGACCAGAGGA 0.358000 7 15 0 0 0.000157383 0 0 EPHB1 2047 broad.mit.edu 37 3 134851795 134851795 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:134851795C>T ENST00000398015.3 + 5 1571 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 401 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGCCCACACCCCCTACACCTT 0.607000 12 20 0 0 0.000978159 0 0 FKBP15 23307 broad.mit.edu 37 9 115946644 115946644 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:115946644G>A ENST00000238256.3 - 17 1761 c.1644C>T c.(1642-1644)tcC>tcT p.S548S NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 548 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GAATAAGCATGGAATTGCCAG 0.373000 9 12 0 0 0.000274275 0 0 FBLN5 10516 broad.mit.edu 37 14 92343867 92343867 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:92343867G>A ENST00000267620.10 - 11 1441 c.1272C>T c.(1270-1272)atC>atT p.I424I FBLN5_ENST00000342058.4_Silent_p.I383I|FBLN5_ENST00000556154.1_Silent_p.I388I Q9UBX5 FBLN5_HUMAN fibulin 5 383 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TCCCAGATTTGATCTGGAAAA 0.552000 18 56 0 0 0.000958276 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50413430 50413430 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:50413430G>A ENST00000435965.1 - 19 1910 c.1737C>T c.(1735-1737)ttC>ttT p.F579F CACNA2D2_ENST00000360963.3_Silent_p.F510F|CACNA2D2_ENST00000266039.3_Silent_p.F579F|CACNA2D2_ENST00000423994.2_Silent_p.F579F|CACNA2D2_ENST00000424201.2_Silent_p.F579F|CACNA2D2_ENST00000395083.1_Silent_p.F579F|CACNA2D2_ENST00000479441.1_Silent_p.F579F|CACNA2D2_ENST00000429770.1_Silent_p.F579F Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 579 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CCGCATCCAGGAAGTCCAGAG 0.597000 23 82 0 0 0.00278032 0 0 KRT83 3889 broad.mit.edu 37 12 52714916 52714916 + Silent SNP G G A rs148290789 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52714916G>A ENST00000293670.3 - 1 266 c.204C>T c.(202-204)ttC>ttT p.F68F NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 68 Head. epidermis development keratin filament structural molecule activity p.F68F(1) NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCGGTAGCCGAAGCTGCGTC 0.711000 20 34 0 0 0.00152264 0 0 SULT1C3 442038 broad.mit.edu 37 2 108872051 108872051 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:108872051C>T ENST00000329106.2 + 4 423 c.423C>T c.(421-423)ccC>ccT p.P141P SULT1C3_ENST00000376700.1_Silent_p.P141P NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 141 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCAGAAATCCCAAGGATTGCC 0.418000 12 47 0 0 0.000422831 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72137929 72137929 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:72137929C>T ENST00000555818.1 + 8 2697 c.2349C>T c.(2347-2349)ttC>ttT p.F783F SIPA1L1_ENST00000537413.1_Silent_p.F258F|SIPA1L1_ENST00000381232.3_Silent_p.F783F|SIPA1L1_ENST00000358550.2_Silent_p.F783F NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 783 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCAGGGACTTCCTTTTGGCGA 0.498000 97 89 0 0 0.000781405 0 0 EBF1 1879 broad.mit.edu 37 5 158141181 158141181 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:158141181G>A ENST00000313708.6 - 12 1417 c.1135C>T c.(1135-1137)Ctc>Ttc p.L379F EBF1_ENST00000517373.1_Missense_Mutation_p.L371F|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.L348F NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 379 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCCTTTTGAGTATTACTTCC 0.488000 T HMGA2 lipoma 68 124 0 0 0.000781405 0 0 ERLEC1 27248 broad.mit.edu 37 2 54028624 54028624 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:54028624C>T ENST00000185150.4 + 7 747 c.616C>T c.(616-618)Ccc>Tcc p.P206S ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.P206S|ERLEC1_ENST00000378239.5_Missense_Mutation_p.P206S|ASB3_ENST00000498475.2_Intron NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 206 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 ACAGAACCGGCCCAGATCAAG 0.368000 47 50 0 0 0.000781405 0 0 RNF152 220441 broad.mit.edu 37 18 59483414 59483414 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:59483414G>A ENST00000312828.3 - 2 1382 c.283C>T c.(283-285)Ccc>Tcc p.P95S NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 95 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CCATTGCTGGGAAGTTTGATG 0.647000 13 53 0 0 0.00185496 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209935880 209935880 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:209935880A>G ENST00000367024.1 + 4 882 c.366A>G c.(364-366)gaA>gaG p.E122E TRAF3IP3_ENST00000400959.3_Silent_p.E102E|TRAF3IP3_ENST00000367025.3_Silent_p.E122E|TRAF3IP3_ENST00000367026.3_Silent_p.E102E|TRAF3IP3_ENST00000010338.4_Silent_p.E102E Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 122 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCAGCTCTGAAGTCTTTCCAG 0.567000 14 74 0 0 0.00244969 0 0 RNF17 56163 broad.mit.edu 37 13 25439062 25439062 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:25439062G>A ENST00000255324.5 + 29 4079 c.4027G>A c.(4027-4029)Gga>Aga p.G1343R RNF17_ENST00000339524.3_Intron|RNF17_ENST00000381921.1_Intron NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1343 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTATTTTGATGGAATGTCACT 0.289000 40 34 0 0 0.00170553 0 0 COL6A3 1293 broad.mit.edu 37 2 238272037 238272037 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:238272037G>A ENST00000295550.4 - 14 6374 c.5922C>T c.(5920-5922)gtC>gtT p.V1974V COL6A3_ENST00000353578.4_Silent_p.V1768V|COL6A3_ENST00000472056.1_Silent_p.V1367V|COL6A3_ENST00000346358.4_Silent_p.V1774V|COL6A3_ENST00000347401.3_Silent_p.V1773V|COL6A3_ENST00000409809.1_Silent_p.V1768V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1974 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCAAGGCACGGACTCCTGCAA 0.468000 24 45 0 0 0.00278032 0 0 FRMD7 90167 broad.mit.edu 37 X 131214289 131214289 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:131214289C>T ENST00000298542.4 - 10 1086 c.911G>A c.(910-912)cGa>cAa p.R304Q FRMD7_ENST00000370879.1_Missense_Mutation_p.R184Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.R289Q NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 304 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding 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) CCTTTGGGTTCGTCCACTATC 0.368000 22 1 0 0 0.00278032 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173883525 173883525 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:173883525G>A ENST00000264111.6 + 22 2334 c.2147G>A c.(2146-2148)gGa>gAa p.G716E RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G717E|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G546E|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G717E|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G573E|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G564E|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G497E|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G564E Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 717 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATGAGTTCCGGAGGAGGTAAC 0.502000 60 66 0 0 0.000781405 0 0 ASPHD2 57168 broad.mit.edu 37 22 26830175 26830175 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26830175C>T ENST00000215906.5 + 2 1032 c.594C>T c.(592-594)atC>atT p.I198I NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 198 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 TCCAGACCATCCTGTGTGAGT 0.552000 22 62 0 0 0.000586117 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68935687 68935687 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:68935687G>A ENST00000356291.2 - 6 612 c.553_splice c.e6+1 p.R185_splice RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 185 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TGGAACTTACGACTGTTGAGA 0.318000 107 75 0 0 0.000781405 0 0 CYP2C8 1558 broad.mit.edu 37 10 96824695 96824695 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96824695G>A ENST00000371270.3 - 4 598 c.504C>T c.(502-504)ttC>ttT p.F168F CYP2C8_ENST00000539050.1_Silent_p.F82F|CYP2C8_ENST00000535898.1_Silent_p.F66F NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 168 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGCCCAGGATGAAAGTGGGAT 0.313000 12 33 0 0 0.00185496 0 0 SF3A1 10291 broad.mit.edu 37 22 30733846 30733846 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30733846G>A ENST00000439242.1 - 12 1720 c.1589C>T c.(1588-1590)cCc>cTc p.P530L SF3A1_ENST00000215793.7_Missense_Mutation_p.P595L NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 595 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GGGCATGACGGGTACTGCGGA 0.597000 56 52 0 0 0.000781405 0 0 HOOK1 51361 broad.mit.edu 37 1 60302572 60302572 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:60302572C>T ENST00000371208.3 + 7 759 c.502C>T c.(502-504)Cct>Tct p.P168S HOOK1_ENST00000395561.2_Missense_Mutation_p.P126S|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 168 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) ATTGAGCTCTCCTCCAAATGA 0.299000 17 52 0 0 0.000958276 0 0 NTRK3 4916 broad.mit.edu 37 15 88524488 88524488 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:88524488C>T ENST00000317501.3 - 14 1850 c.1689G>A c.(1687-1689)caG>caA p.Q563Q NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Silent_p.Q563Q|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000394480.1_Intron NM_001007156.2 NP_001007157.1 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 0 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity 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) cttccccactctggacctcag 0.408000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 10 3 0 0 0.000442599 0 0 LPHN3 23284 broad.mit.edu 37 4 62813848 62813848 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:62813848T>A ENST00000512091.1 + 16 3202 c.2455T>A c.(2455-2457)Tca>Aca p.S819T LPHN3_ENST00000506746.1_Missense_Mutation_p.S887T|LPHN3_ENST00000545650.1_Missense_Mutation_p.S819T|LPHN3_ENST00000504896.1_Missense_Mutation_p.S819T|LPHN3_ENST00000514996.1_Missense_Mutation_p.S819T|LPHN3_ENST00000514157.1_Missense_Mutation_p.S819T|LPHN3_ENST00000506700.1_Missense_Mutation_p.S819T|LPHN3_ENST00000508946.1_Missense_Mutation_p.S819T|LPHN3_ENST00000507164.1_Missense_Mutation_p.S887T|LPHN3_ENST00000514591.1_Missense_Mutation_p.S819T|LPHN3_ENST00000508693.1_Missense_Mutation_p.S887T|LPHN3_ENST00000506720.1_Missense_Mutation_p.S887T|LPHN3_ENST00000509896.1_Missense_Mutation_p.S887T|LPHN3_ENST00000507625.1_Missense_Mutation_p.S887T|LPHN3_ENST00000511324.1_Missense_Mutation_p.S887T Q9HAR2 LPHN3_HUMAN latrophilin 3 806 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CCCTAACTGTTCATTTTGGAG 0.378000 6 19 0 0 0.00116845 0 0 IL17RA 23765 broad.mit.edu 37 22 17583051 17583051 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:17583051C>T ENST00000319363.6 + 7 754 c.621C>T c.(619-621)atC>atT p.I207I NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 207 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ACCCCAACATCACCGTGGAGA 0.577000 17 123 0 0 0.00074312 0 0 MGAM 8972 broad.mit.edu 37 7 141765395 141765395 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141765395G>A ENST00000475668.2 + 39 4680 c.4626G>A c.(4624-4626)atG>atA p.M1542I MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1542 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CAGGCATGATGGAGTTCAGCC 0.532000 22 81 0 0 0.000878237 0 0 APOL5 80831 broad.mit.edu 37 22 36122920 36122920 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36122920C>T ENST00000249044.2 + 3 805 c.805C>T c.(805-807)Cct>Tct p.P269S NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 269 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GAGACACATCCCTTTCTGGAC 0.542000 98 354 0 0 0.000781405 0 0 PTGS1 5742 broad.mit.edu 37 9 125140280 125140280 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125140280C>T ENST00000362012.2 + 3 202 c.197C>T c.(196-198)cCc>cTc p.P66L PTGS1_ENST00000540753.1_Missense_Mutation_p.P41L|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.P66L NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 66 EGF-like. cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TATTCCGGCCCCAACTGCACC 0.607000 13 67 0 0 0.00244969 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052318 55052318 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:55052318G>A ENST00000474759.1 + 35 3009 c.2961G>A c.(2959-2961)ggG>ggA p.G987G CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.G893G|CACNA2D3_ENST00000415676.2_Silent_p.G987G|CACNA2D3_ENST00000288197.5_Silent_p.G987G NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 987 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G987>?(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGACTACAGGGAATATTGCTT 0.507000 11 10 0 0 0.00185496 0 0 PARP8 79668 broad.mit.edu 37 5 50056193 50056193 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:50056193G>A ENST00000281631.5 + 5 500 c.342G>A c.(340-342)ggG>ggA p.G114G PARP8_ENST00000511363.2_Intron|PARP8_ENST00000505554.1_Silent_p.G93G|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Silent_p.G114G|PARP8_ENST00000503750.2_Silent_p.G114G|PARP8_ENST00000514067.2_Silent_p.G114G NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 114 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AGGAAAATGGGGAGGTATGTA 0.229000 7 12 0 0 0.000157383 0 0 PCDH18 54510 broad.mit.edu 37 4 138453134 138453134 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:138453134C>T ENST00000344876.4 - 1 495 c.109G>A c.(109-111)Gaa>Aaa p.E37K PCDH18_ENST00000412923.2_Missense_Mutation_p.E37K|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 37 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACCCTCTGTTCCTCATAAATC 0.383000 22 49 0 0 0.00188189 0 0 FSHR 2492 broad.mit.edu 37 2 49244651 49244651 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:49244651C>T ENST00000406846.2 - 4 470 c.351G>A c.(349-351)caG>caA p.Q117Q FSHR_ENST00000346173.3_Silent_p.Q117Q|FSHR_ENST00000304421.4_Silent_p.Q117Q NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 117 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGGGAAGGTTCTGGAAGGCCT 0.393000 Gonadal Dysgenesis, 46 XX 11 15 0 0 0.00136819 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785496 37785496 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:37785496C>T ENST00000314103.4 + 12 1527 c.1376C>T c.(1375-1377)cCc>cTc p.P459L NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 459 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 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GTCAAAAGCCCCTTGCCGGGG 0.637000 10 28 0 0 0.000442599 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99025842 99025842 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:99025842G>A ENST00000453547.2 - 2 96 c.97C>T c.(97-99)Ctt>Ttt p.L33F ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L24F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L24F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L33F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L33F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L33F TGACCTCGAAGGGAAGAATCA 0.398000 18 28 0 0 0.00121646 0 0 ADCK4 79934 broad.mit.edu 37 19 41208507 41208507 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41208507G>A ENST00000324464.3 - 10 1192 c.891C>T c.(889-891)ttC>ttT p.F297F ADCK4_ENST00000243583.6_Silent_p.F256F|ADCK4_ENST00000450541.1_Silent_p.F256F NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 297 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CAGCTCACCTGAAATTCTGGG 0.642000 24 83 0 0 0.000878237 0 0 FAM171B 165215 broad.mit.edu 37 2 187626229 187626229 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:187626229A>T ENST00000304698.5 + 8 1363 c.1160A>T c.(1159-1161)aAa>aTa p.K387I NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 387 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ACTCCACAGAAAAGAGAAAGA 0.333000 21 75 0 0 0.00278032 0 0 C1orf173 127254 broad.mit.edu 37 1 75037352 75037352 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75037352C>T ENST00000326665.5 - 14 4260 c.4042G>A c.(4042-4044)Gaa>Aaa p.E1348K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1348 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTGCCGTTTCACCACCTCCG 0.532000 59 72 0 0 0.000781405 0 0 OR4X1 390113 broad.mit.edu 37 11 48285953 48285953 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:48285953C>T ENST00000320048.1 + 1 541 c.541C>T c.(541-543)Cca>Tca p.P181S NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TGATGTCCACCCAGTGCTGGA 0.567000 8 15 0 0 0.000673444 0 0 MYH1 4619 broad.mit.edu 37 17 10416015 10416015 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10416015C>T ENST00000226207.5 - 11 1085 c.991G>A c.(991-993)Gag>Aag p.E331K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 331 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCCATCAACTCTTCTTGGTCA 0.403000 37 37 0 0 0.00128727 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275995 130275995 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:130275995G>A ENST00000257359.6 - 9 2834 c.2128C>T c.(2128-2130)Cca>Tca p.P710S NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 710 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCACCAGCTGGGATGGTGACA 0.552000 23 28 0 0 0.00278032 0 0 ATG2A 23130 broad.mit.edu 37 11 64681835 64681835 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:64681835G>A ENST00000421419.2 - 2 423 c.309C>T c.(307-309)ctC>ctT p.L103L ATG2A_ENST00000377264.3_Silent_p.L103L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 103 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCTGCAAGGTGAGCTGGAGGC 0.711000 6 5 0 0 0.00198382 0 0 CDR1 1038 broad.mit.edu 37 X 139866342 139866342 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:139866342G>A ENST00000370532.2 - 1 381 c.190C>T c.(190-192)Ctg>Ttg p.L64L NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 64 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AGGTCTTCCAGGAAATCCGTG 0.443000 55 5 0 0 0.000781405 0 0 EP300 2033 broad.mit.edu 37 22 41523662 41523662 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:41523662G>A ENST00000263253.7 + 4 2297 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 360 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGCCAATGGGGAAGTGAGGCA 0.537000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 56 221 0 0 0.000781405 0 0 GRHL3 57822 broad.mit.edu 37 1 24663622 24663622 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:24663622G>A ENST00000361548.4 + 5 897 c.667G>A c.(667-669)Gac>Aac p.D223N GRHL3_ENST00000342072.4_Missense_Mutation_p.D130N|GRHL3_ENST00000356046.2_Missense_Mutation_p.D177N|GRHL3_ENST00000236255.4_Missense_Mutation_p.D228N|GRHL3_ENST00000350501.5_Missense_Mutation_p.D223N NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 223 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) ATGTCCAGAGGACTACCCCAG 0.567000 10 32 0 0 0.000978159 0 0 DYX1C1 161582 broad.mit.edu 37 15 55789929 55789929 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:55789929C>T ENST00000321149.3 - 3 619 c.252G>A c.(250-252)gaG>gaA p.E84E DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Silent_p.E84E|DYX1C1_ENST00000348518.3_Silent_p.E84E|DYX1C1_ENST00000380679.1_Silent_p.E84E|DYX1C1_ENST00000448430.2_Silent_p.E84E NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 84 CS.|Mediates interaction with ESR1 and STUB1. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) CAGAAAGGGTCTCCCACATGG 0.393000 25 71 0 0 0.00127121 0 0 OR8D1 283159 broad.mit.edu 37 11 124180576 124180576 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124180576G>A ENST00000357821.2 - 1 157 c.87C>T c.(85-87)ctC>ctT p.L29L NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 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;0.0528) CCAGGAACAGGAGGAAGAGGG 0.478000 14 28 0 0 0.00244969 0 0 CACNA1E 777 broad.mit.edu 37 1 181767716 181767716 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181767716G>A ENST00000526775.1 + 46 6667 c.6502G>A c.(6502-6504)Gag>Aag p.E2168K CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2181K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2187K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2211K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2230K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2119K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1794K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2230 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTACATCTCCGAGCCCTACTT 0.612000 11 20 0 0 0.000978159 0 0 PARP8 79668 broad.mit.edu 37 5 50091143 50091143 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:50091143C>T ENST00000281631.5 + 12 1478 c.1320C>T c.(1318-1320)tcC>tcT p.S440S PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Silent_p.S419S|PARP8_ENST00000514342.2_Silent_p.S193S|PARP8_ENST00000505697.2_Silent_p.S440S|PARP8_ENST00000503750.2_Silent_p.S440S|PARP8_ENST00000514067.2_Silent_p.S440S NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 440 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) CCAAGTCATCCAAAACTGAGC 0.438000 27 19 0 0 0.00127121 0 0 IGHJ2 28481 broad.mit.edu 37 14 106331449 106331449 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106331449G>A ENST00000390564.2 - 0 11 CCCAGAGATCGAAGTACCAGT 0.612000 4 17 0 0 0.00024832 0 0 DNAH9 1770 broad.mit.edu 37 17 11726309 11726309 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:11726309G>A ENST00000262442.3 + 48 9272 c.9204G>A c.(9202-9204)cgG>cgA p.R3068R DNAH9_ENST00000454412.2_Silent_p.R3068R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3068 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGACAGAGCGGTTGGAGAACG 0.552000 21 0 0 0 0.00152264 0 0 MYOM2 9172 broad.mit.edu 37 8 2056620 2056620 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:2056620C>T ENST00000262113.4 + 24 3183 c.3043_splice c.e24+1 p.P1014_splice MYOM2_ENST00000523438.1_Splice_Site_p.P439_splice NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1014 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TAAAGAACCCCAGTAAGTAAG 0.468000 53 48 0 0 0.000781405 0 0 SIRPG 55423 broad.mit.edu 37 20 1617025 1617025 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1617025C>T ENST00000381580.1 - 3 637 c.458G>A c.(457-459)gGg>gAg p.G153E SIRPG_ENST00000381583.2_Missense_Mutation_p.G186E|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.G186E|SIRPG_ENST00000216927.4_Missense_Mutation_p.G186E Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 186 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GAGCTCATTCCCATTTTTGAA 0.577000 26 59 0 0 0.00106085 0 0 ELTD1 64123 broad.mit.edu 37 1 79470843 79470843 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:79470843G>A ENST00000370742.3 - 2 147 c.84C>T c.(82-84)ctC>ctT p.L28L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 28 EGF-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTGCATTTGGGAGACAAGGTG 0.343000 55 43 0 0 0.000781405 0 0 THEMIS 387357 broad.mit.edu 37 6 128134491 128134491 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:128134491C>T ENST00000368250.1 - 5 1556 c.1058G>A c.(1057-1059)gGa>gAa p.G353E THEMIS_ENST00000537166.1_Missense_Mutation_p.G397E|THEMIS_ENST00000368248.2_Missense_Mutation_p.G432E|THEMIS_ENST00000543064.1_Missense_Mutation_p.G432E Q8N1K5 THMS1_HUMAN thymocyte selection associated 432 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TACAAAACCTCCTTCCATGTA 0.443000 18 22 0 0 0.000958276 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818223 146818223 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:146818223G>A ENST00000361727.3 + 6 1423 c.907G>A c.(907-909)Gga>Aga p.G303R NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 303 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCGTACCAATGGAGAGTTTGA 0.473000 HNSCC(39;0.1) 15 71 0 0 0.000566183 0 0 ENPEP 2028 broad.mit.edu 37 4 111397858 111397858 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:111397858C>T ENST00000265162.5 + 1 630 c.288C>T c.(286-288)ttC>ttT p.F96F NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 96 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.F96F(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGCCGGACTTCGTCAACCCAG 0.627000 25 62 0 0 0.000586117 0 0 BCL11A 53335 broad.mit.edu 37 2 60689025 60689025 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:60689025C>T ENST00000335712.6 - 4 1249 c.1022G>A c.(1021-1023)aGg>aAg p.R341K BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.R341K|BCL11A_ENST00000538214.1_Missense_Mutation_p.R307K|BCL11A_ENST00000358510.4_Missense_Mutation_p.R307K NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 341 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TTGCAGTAACCTTTGCATAGG 0.652000 T IGH@ B-CLL 133 408 0 0 0.000781405 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42285015 42285015 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:42285015G>A ENST00000399518.3 - 13 1876 c.1390C>T c.(1390-1392)Cgg>Tgg p.R464W PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R435W|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 452 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CTGCGCTGCCGGAGCTCCTCC 0.582000 17 27 0 0 0.000566183 0 0 KCNH1 3756 broad.mit.edu 37 1 210970967 210970967 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:210970967C>T ENST00000367007.4 - 9 1886 c.1717G>A c.(1717-1719)Gtg>Atg p.V573M KCNH1_ENST00000271751.4_Missense_Mutation_p.V600M NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 600 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) GCACAGTGCACCGTCTGGAAC 0.607000 15 78 0 0 0.00244969 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646234 19646234 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:19646234C>T ENST00000555938.1 + 6 527 c.515C>T c.(514-516)cCc>cTc p.P172L YJEFN3_ENST00000436027.4_Missense_Mutation_p.P123L|YJEFN3_ENST00000514277.3_Missense_Mutation_p.P173L ATGGACATCCCCTTCCTGAGC 0.642000 14 14 0 0 0.00244969 0 0 VENTX 27287 broad.mit.edu 37 10 135053291 135053291 + Missense_Mutation SNP C C T rs139243086 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:135053291C>T ENST00000325980.9 + 2 864 c.353C>T c.(352-354)cCt>cTt p.P118L NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 118 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) TACCTGAGCCCTCTGGAGCGG 0.677000 12 52 0 0 0.000308642 0 0 UPF2 26019 broad.mit.edu 37 10 12046533 12046533 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:12046533G>T ENST00000356352.2 - 4 1973 c.1500C>A c.(1498-1500)acC>acA p.T500T UPF2_ENST00000397053.2_Silent_p.T500T|UPF2_ENST00000357604.5_Silent_p.T500T Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 500 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ATTTACCTTTGGTATCATCTT 0.269000 9 191 0.000274275 0.00100609 0.000274275 1 0 GABRA3 2556 broad.mit.edu 37 X 151424268 151424268 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:151424268G>A ENST00000370314.4 - 5 771 c.533C>T c.(532-534)aCc>aTc p.T178I GABRA3_ENST00000370311.1_Missense_Mutation_p.T178I|GABRA3_ENST00000535043.1_Missense_Mutation_p.T178I NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 178 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAGAGGAGGGTTCCGTTGTC 0.478000 19 36 0 0 0.00152264 0 0 ADCY9 115 broad.mit.edu 37 16 4164539 4164539 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:4164539G>A ENST00000294016.3 - 2 1443 c.905C>T c.(904-906)tCc>tTc p.S302F NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 302 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCTCACCTGGGACATGACGAA 0.617000 47 19 0 0 0.000781405 0 0 ZNF419 79744 broad.mit.edu 37 19 58004510 58004510 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58004510C>T ENST00000424930.2 + 5 817 c.588C>T c.(586-588)gcC>gcT p.A196A ZNF419_ENST00000442920.2_Silent_p.A182A|ZNF419_ENST00000415379.2_Silent_p.A149A|ZNF419_ENST00000354197.4_Silent_p.A183A|ZNF419_ENST00000347466.6_Silent_p.A163A|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Silent_p.A183A|ZNF419_ENST00000221735.7_Silent_p.A195A NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) GTAGGGAGGCCTTTCATGCTG 0.483000 12 26 0 0 0.000978159 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478427 14478427 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:14478427C>T ENST00000581457.1 - 0 1481 NR_024076.1 GGCGGCACATCTTCCCTGATA 0.458000 4 7 0 0 0.000602214 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650079 51650079 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51650079T>C ENST00000317643.6 + 5 1165 c.1096T>C c.(1096-1098)Ttc>Ctc p.F366L SIGLEC7_ENST00000305628.7_Missense_Mutation_p.F273L|SIGLEC7_ENST00000600577.1_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 366 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) AGCCCTGGTCTTCCTCTCCTT 0.587000 50 63 0 0 0.000781405 0 0 NT5E 4907 broad.mit.edu 37 6 86181079 86181079 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:86181079C>T ENST00000257770.3 + 3 736 c.687C>T c.(685-687)atC>atT p.I229I NT5E_ENST00000369651.3_Silent_p.I229I|NT5E_ENST00000369646.3_Silent_p.I229I NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 229 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding p.I229I(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) ATAAACTCATCGCTCAGAAAG 0.408000 15 39 0 0 0.00121646 0 0 NPY4R 5540 broad.mit.edu 37 10 47086912 47086912 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:47086912C>T ENST00000374312.1 + 3 548 c.129C>T c.(127-129)ttC>ttT p.F43F NPY4R_ENST00000395716.1_Silent_p.F43F NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TGATGGTCTTCATCGTCACTT 0.522000 52 117 0 0 0.000781405 0 0 CNTN5 53942 broad.mit.edu 37 11 100211914 100211914 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:100211914G>A ENST00000524871.1 + 23 3297 c.3007G>A c.(3007-3009)Gaa>Aaa p.E1003K CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1003 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATTAGCCAACGAATCTGAAGT 0.433000 22 41 0 0 0.00278032 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55002514 55002514 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:55002514G>A ENST00000474759.1 + 28 2535 c.2487G>A c.(2485-2487)agG>agA p.R829R CACNA2D3_ENST00000490478.1_Silent_p.R735R|CACNA2D3_ENST00000415676.2_Silent_p.R829R|CACNA2D3_ENST00000288197.5_Silent_p.R829R NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 829 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTTTCCAAAGGAAGTTCTGGA 0.378000 5 17 0 0 0.00198382 0 0 ADCY8 114 broad.mit.edu 37 8 131859744 131859744 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:131859744C>T ENST00000286355.5 - 11 4520 c.2428G>A c.(2428-2430)Gac>Aac p.D810N ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 810 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATCGACTTGTCAAAATCACAC 0.393000 HNSCC(32;0.087) 10 39 0 0 0.000978159 0 0 SAMD12 401474 broad.mit.edu 37 8 119391684 119391684 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:119391684G>A ENST00000314727.4 - 4 714 c.578C>T c.(577-579)tCc>tTc p.S193F SAMD12_ENST00000409003.4_Intron|SAMD12_ENST00000527515.1_Intron|AC023590.1_ENST00000430457.1_Intron NM_207506.2 NP_997389.2 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 193 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) TTCTATGATGGAAATTCTGTG 0.378000 9 20 0 0 0.000978159 0 0 SLIT2 9353 broad.mit.edu 37 4 20525790 20525790 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:20525790C>T ENST00000504154.1 + 14 1680 c.1428C>T c.(1426-1428)ttC>ttT p.F476F SLIT2_ENST00000273739.5_Silent_p.F480F|SLIT2_ENST00000503837.1_Silent_p.F480F|SLIT2_ENST00000503823.1_Silent_p.F476F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 476 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCAAGAAATTCCGTTGTTCAG 0.473000 22 68 0 0 0.00152264 0 0 IFNA5 3442 broad.mit.edu 37 9 21305016 21305016 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:21305016G>A ENST00000259555.4 - 1 296 c.240C>T c.(238-240)ctC>ctT p.L80L NM_002169.2 NP_002160.1 P01569 IFNA5_HUMAN interferon, alpha 5 80 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 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCATCTCATGGAGGACAGAGA 0.468000 27 7 0 0 0.000720815 0 0 NLRP12 91662 broad.mit.edu 37 19 54313058 54313058 + Missense_Mutation SNP C C T rs139082917 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54313058C>T ENST00000324134.6 - 3 2023 c.1855G>A c.(1855-1857)Gag>Aag p.E619K NLRP12_ENST00000351894.4_Missense_Mutation_p.E619K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E619K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E619K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E619K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E619K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E619K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E619K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 619 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCCTGGATCTCGTACAAGCAG 0.557000 32 89 0 0 0.00058488 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18574073 18574073 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:18574073G>A ENST00000380548.4 + 4 622 c.283G>A c.(283-285)Gct>Act p.A95T ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A95T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 95 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding 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) GCAATGCTCAGCTCATAATGA 0.473000 35 7 0 0 0.00111076 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189571 58189571 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58189571G>A ENST00000318203.5 + 5 1297 c.600G>A c.(598-600)tcG>tcA p.S200S NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 200 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAGTTCTTCGAAAACTACTC 0.403000 20 36 0 0 0.00152264 0 0 KCNT2 343450 broad.mit.edu 37 1 196205198 196205198 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:196205198C>T ENST00000367433.5 - 26 3243 c.3142G>A c.(3142-3144)Gaa>Aaa p.E1048K KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E1006K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E1072K|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1072 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TCATTCATTTCATCTAGAAGA 0.333000 50 96 0 0 0.000781405 0 0 COL22A1 169044 broad.mit.edu 37 8 139712353 139712353 + Splice_Site SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:139712353A>C ENST00000303045.6 - 32 3039 c.e32+1 COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCTACTACTTACGGGCATCCG 0.557000 HNSCC(7;0.00092) 5 22 0 0 0.000157383 0 0 PRR16 51334 broad.mit.edu 37 5 120021865 120021865 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:120021865C>T ENST00000379551.2 + 3 664 c.307C>T c.(307-309)Cct>Tct p.P103S PRR16_ENST00000505123.1_Missense_Mutation_p.P56S|PRR16_ENST00000407149.2_Missense_Mutation_p.P126S|PRR16_ENST00000446965.1_Missense_Mutation_p.P56S NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 126 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCCACCACCTCCTCCAAGGTT 0.512000 26 16 0 0 0.00127121 0 0 C5orf51 285636 broad.mit.edu 37 5 41909989 41909989 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41909989C>T ENST00000381647.2 + 3 368 c.349C>T c.(349-351)Cca>Tca p.P117S C5orf51_ENST00000505931.2_3'UTR NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 117 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TAATATGCATCCAAAAGTAAG 0.308000 5 24 0 0 0.000602214 0 0 DDX1 1653 broad.mit.edu 37 2 15763586 15763586 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:15763586C>T ENST00000381341.2 + 20 1863 c.1474C>T c.(1474-1476)Ctg>Ttg p.L492L DDX1_ENST00000233084.3_Silent_p.L492L Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 492 Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TATTAAAATCCTGAAAGGGGA 0.353000 17 36 0 0 0.000958276 0 0 ADAM28 10863 broad.mit.edu 37 8 24201093 24201093 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:24201093C>T ENST00000265769.4 + 18 2096 c.1986C>T c.(1984-1986)gtC>gtT p.V662V ADAM28_ENST00000397649.3_Silent_p.V409V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 662 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCTCAGTGGTCTTCCGTAGGT 0.448000 7 11 0 0 0.00198382 0 0 GRAMD3 65983 broad.mit.edu 37 5 125809035 125809035 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:125809035C>T ENST00000285689.3 + 5 922 c.461C>T c.(460-462)tCc>tTc p.S154F GRAMD3_ENST00000511134.1_Missense_Mutation_p.S138F|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.S131F|GRAMD3_ENST00000502348.1_Missense_Mutation_p.S45F|GRAMD3_ENST00000542322.1_Missense_Mutation_p.S162F|GRAMD3_ENST00000544396.1_Missense_Mutation_p.S50F|GRAMD3_ENST00000515200.1_Missense_Mutation_p.S131F|GRAMD3_ENST00000513040.1_Missense_Mutation_p.S169F NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 154 GRAM. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) TGTTTTCATTCCAAAGTCTTT 0.299000 16 51 0 0 0.00074312 0 0 PTPN1 5770 broad.mit.edu 37 20 49195842 49195842 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:49195842C>T ENST00000371621.3 + 7 1014 c.840C>T c.(838-840)ttC>ttT p.F280F PTPN1_ENST00000541713.1_Silent_p.F207F NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 280 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) GTGCCAAATTCATCATGGGGG 0.483000 62 206 0 0 0.000781405 0 0 BAX 581 broad.mit.edu 37 19 49459484 49459484 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49459484C>T ENST00000293288.8 + 4 263 c.263C>T c.(262-264)cCc>cTc p.P88L BAX_ENST00000345358.7_Missense_Mutation_p.P88L|BAX_ENST00000539787.1_Missense_Mutation_p.P88L|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.P88L|BAX_ENST00000354470.3_Missense_Mutation_p.P39L NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 88 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) ACAGACTCCCCCCGAGAGGTC 0.577000 20 100 0 0 0.000586117 0 0 ITGA1 3672 broad.mit.edu 37 5 52189578 52189578 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:52189578G>A ENST00000282588.6 + 9 1455 c.997G>A c.(997-999)Gaa>Aaa p.E333K NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 333 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AATTGCAAGTGAACCCACTGA 0.373000 14 55 0 0 0.00244969 0 0 PLCL2 23228 broad.mit.edu 37 3 17053427 17053427 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:17053427C>T ENST00000418129.2 + 2 2676 c.2211C>T c.(2209-2211)tcC>tcT p.S737S PLCL2_ENST00000396755.2_Silent_p.S737S|PLCL2_ENST00000432376.1_Silent_p.S737S NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 863 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CCCTGCAGTCCTTAACTGGAG 0.483000 29 96 0 0 0.000814825 0 0 FLAD1 80308 broad.mit.edu 37 1 154960578 154960578 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:154960578C>T ENST00000368431.3 + 3 893 c.73C>T c.(73-75)Cag>Tag p.Q25* FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000405236.2_Nonsense_Mutation_p.Q25*|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000292180.3_Intron NM_001184892.1 NP_001171821.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 124 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTTCAACCCCCAGGGACACAC 0.557000 112 77 0 0 0.000781405 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611407 84611407 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:84611407G>A ENST00000286744.5 + 18 2401 c.2177G>A c.(2176-2178)cGa>cAa p.R726Q ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R726Q NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 726 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) ATTCAGACCCGAGATGTGTAC 0.537000 10 41 0 0 0.000978159 0 0 PXDN 7837 broad.mit.edu 37 2 1652631 1652631 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:1652631C>T ENST00000252804.4 - 17 2971 c.2921G>A c.(2920-2922)gGg>gAg p.G974E NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 974 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 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) GCGGTGGTCCCCGGCCAGGAA 0.697000 12 4 0 0 0.00185496 0 0 MEGF8 1954 broad.mit.edu 37 19 42863316 42863316 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42863316T>A ENST00000334370.4 + 30 5844 c.5209T>A c.(5209-5211)Tcg>Acg p.S1737T MEGF8_ENST00000251268.6_Missense_Mutation_p.S1804T NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1804 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGGGGGGCGCTCGGACCCTGA 0.652000 6 7 0 0 0.000157383 0 0 IL17A 3605 broad.mit.edu 37 6 52054084 52054084 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:52054084G>A ENST00000340057.1 + 3 507 c.462G>A c.(460-462)gtG>gtA p.V154V NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 154 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 endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) TCCACCATGTGGCCTAAGAGC 0.597000 11 12 0 0 0.000978159 0 0 PTPRT 11122 broad.mit.edu 37 20 40739032 40739032 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:40739032G>A ENST00000373198.3 - 24 3496 c.3261C>T c.(3259-3261)ttC>ttT p.F1087F PTPRT_ENST00000373184.1_Silent_p.F1075F|PTPRT_ENST00000356100.2_Silent_p.F1074F|PTPRT_ENST00000373187.1_Silent_p.F1065F|PTPRT_ENST00000373190.1_Silent_p.F1064F|PTPRT_ENST00000373193.3_Silent_p.F1068F|PTPRT_ENST00000373201.1_Silent_p.F1055F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1065 Substrate binding (By similarity).|Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTGGCGGACGAAGCCCAGAA 0.622000 34 15 0 0 0.000814825 0 0 IFNA21 3452 broad.mit.edu 37 9 21166166 21166166 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:21166166C>T ENST00000380225.1 - 1 493 c.446G>A c.(445-447)aGa>aAa p.R149K NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 149 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 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) AAGAGTGATTCTTTGGAAGTA 0.448000 47 8 0 0 0.000781405 0 0 LRIG3 121227 broad.mit.edu 37 12 59271441 59271441 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:59271441G>A ENST00000320743.3 - 15 2563 c.2277C>T c.(2275-2277)gtC>gtT p.V759V LRIG3_ENST00000379141.4_Silent_p.V699V NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 759 Ig-like C2-type 3. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CAGCATCACTGACATCTGAGT 0.498000 T ROS1 NSCLC 81 46 0 0 0.000781405 0 0 LVRN 206338 broad.mit.edu 37 5 115327846 115327846 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:115327846A>C ENST00000357872.4 + 5 1256 c.1132A>C c.(1132-1134)Aac>Cac p.N378H AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 378 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TAGTTTTGACAACCATGCAAT 0.313000 24 51 0 0 0.00106085 0 0 GLIS1 148979 broad.mit.edu 37 1 54060405 54060405 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:54060405G>A ENST00000312233.2 - 3 737 c.171C>T c.(169-171)ctC>ctT p.L57L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 57 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 TGCCCTCGGGGAGGTGGGTCT 0.701000 14 11 0 0 0.00244969 0 0 ZNF446 55663 broad.mit.edu 37 19 58988735 58988735 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58988735G>A ENST00000596341.1 + 2 2370 c.150G>A c.(148-150)ctG>ctA p.L50L ZNF446_ENST00000594369.1_Silent_p.L50L|ZNF446_ENST00000335841.4_Silent_p.L50L Q9NWS9 ZN446_HUMAN zinc finger protein 446 50 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TGCGTGAGCTGTGTTGCCAGT 0.657000 51 46 0 0 0.000781405 0 0 TSC2 7249 broad.mit.edu 37 16 2129313 2129313 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2129313G>A ENST00000219476.3 + 28 3798 c.3168G>A c.(3166-3168)agG>agA p.R1056R TSC2_ENST00000382538.6_Silent_p.R964R|TSC2_ENST00000401874.2_Silent_p.R1012R|TSC2_ENST00000568454.1_Silent_p.R1023R|TSC2_ENST00000439673.2_Silent_p.R976R|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Silent_p.R1056R|TSC2_ENST00000353929.4_Silent_p.R1013R NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1056 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CGGGTGGCAGGACCAAAACCT 0.642000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 43 23 0 0 0.000781405 0 0 PTHLH 5744 broad.mit.edu 37 12 28116390 28116390 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:28116390T>C ENST00000535992.1 - 3 761 c.415A>G c.(415-417)Aaa>Gaa p.K139E PTHLH_ENST00000539239.1_Missense_Mutation_p.K139E|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Missense_Mutation_p.K139E|PTHLH_ENST00000201015.4_Missense_Mutation_p.K139E|PTHLH_ENST00000538310.1_Missense_Mutation_p.K139E|PTHLH_ENST00000395872.1_Missense_Mutation_p.K139E|PTHLH_ENST00000354417.3_Missense_Mutation_p.K139E|PTHLH_ENST00000545234.1_Missense_Mutation_p.K139E P12272 PTHR_HUMAN parathyroid hormone-like hormone 139 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) CGCCGTTTTTTCTTTTCCTGC 0.542000 14 40 0 0 0.000422831 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623645 21623645 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:21623645G>A ENST00000304418.3 - 1 577 c.540C>T c.(538-540)ccC>ccT p.P180P NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGTAGAGCAGGGGGTTACAAA 0.517000 8 18 0 0 0.000157383 0 0 TMEM156 80008 broad.mit.edu 37 4 38995404 38995404 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:38995404C>T ENST00000381938.3 - 3 680 c.573G>A c.(571-573)ccG>ccA p.P191P NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 191 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 TACAATCATTCGGGTATTCCA 0.353000 32 64 0 0 0.00178596 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399557 8399557 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:8399557C>T ENST00000471889.1 + 8 2164 c.1779C>T c.(1777-1779)atC>atT p.I593I SLC45A1_ENST00000377479.2_Silent_p.I627I|SLC45A1_ENST00000289877.8_Silent_p.I593I Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 593 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCGCAGCTATCCTGGAGAAGC 0.652000 31 39 0 0 0.00209593 0 0 POU6F2 11281 broad.mit.edu 37 7 39504103 39504103 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:39504103C>T ENST00000518318.2 + 10 1828 c.1786C>T c.(1786-1788)Cct>Tct p.P596S POU6F2_ENST00000403058.1_Missense_Mutation_p.P632S|POU6F2_ENST00000559001.1_Missense_Mutation_p.P577S P78424 PO6F2_HUMAN POU class 6 homeobox 2 632 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GAACACACACCCTTCTGGGCA 0.502000 6 24 0 0 0.00198382 0 0 MYO15A 51168 broad.mit.edu 37 17 18042919 18042919 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:18042919G>A ENST00000205890.5 + 19 5543 c.5205G>A c.(5203-5205)cgG>cgA p.R1735R MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1735 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TACGGAGCCGGACACGGGTAA 0.637000 11 13 0 0 0.00136819 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121734 38121734 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38121734C>T ENST00000406386.3 + 7 3426 c.3171C>T c.(3169-3171)ccC>ccT p.P1057P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1057 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ACGAGCCTCCCTATATACCAC 0.657000 22 172 0 0 0.00278032 0 0 CACNA1I 8911 broad.mit.edu 37 22 40069009 40069009 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:40069009G>A ENST00000336649.4 + 31 4723 c.4723G>A c.(4723-4725)Gag>Aag p.E1575K CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1534K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E1569K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1534K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1569K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1534K Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1569 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CATCACCCTGGAGGAGATCGA 0.602000 77 88 0 0 0.000781405 0 0 UNC45B 146862 broad.mit.edu 37 17 33503017 33503017 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33503017G>A ENST00000268876.5 + 15 2092 c.1995G>A c.(1993-1995)aaG>aaA p.K665K UNC45B_ENST00000591048.1_Silent_p.K584K|UNC45B_ENST00000433649.1_Silent_p.K663K|UNC45B_ENST00000394570.2_Silent_p.K663K|UNC45B_ENST00000378449.1_Silent_p.K584K NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 665 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) ACAACCCAAAGGACCGAGGCA 0.547000 31 75 0 0 0.00283554 0 0 FMN2 56776 broad.mit.edu 37 1 240371584 240371584 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:240371584C>T ENST00000319653.9 + 5 3702 c.3472C>T c.(3472-3474)Ccc>Tcc p.P1158S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1158 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 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) GCCCCCACTTCCCGGAGCGGG 0.706000 3 6 0 0 6.4e-05 0 0 PPDPF 79144 broad.mit.edu 37 20 62152912 62152912 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62152912T>G ENST00000370179.3 + 3 299 c.103T>G c.(103-105)Tgc>Ggc p.C35G PPDPF_ENST00000473620.1_3'UTR|PPDPF_ENST00000370177.1_Missense_Mutation_p.C35G NM_024299.2 NP_077275.1 Q9H3Y8 PPDPF_HUMAN pancreatic progenitor cell differentiation and proliferation factor 35 cell differentiation|multicellular organismal development kidney(1)|lung(2)|ovary(1) 4 CAGTACCGAGTGCCCCGGGGA 0.687000 12 49 0 0 0.00136819 0 0 COL11A1 1301 broad.mit.edu 37 1 103427757 103427757 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:103427757C>A ENST00000358392.2 - 40 3442 c.3125G>T c.(3124-3126)gGg>gTg p.G1042V COL11A1_ENST00000512756.1_Missense_Mutation_p.G914V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G991V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1030V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1030 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTCTTTCCCCTGGGAAACC 0.383000 72 124 4.81439e-37 1.78784e-36 0.000781405 1 0 SEC14L3 266629 broad.mit.edu 37 22 30866032 30866032 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30866032G>A ENST00000403066.1 - 5 314 c.31C>T c.(31-33)Cat>Tat p.H11Y SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_Missense_Mutation_p.H11Y|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000215812.4_Missense_Mutation_p.H70Y|SEC14L3_ENST00000539629.1_Missense_Mutation_p.H11Y|SEC14L3_ENST00000415957.2_Missense_Mutation_p.H11Y Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 70 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TCAAGGATATGGTCAATATCC 0.537000 155 156 0 0 0.000781405 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837822 93837822 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:93837822C>T ENST00000315765.9 + 16 2819 c.2811C>T c.(2809-2811)tcC>tcT p.S937S NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 937 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGAATGAATCCTGGTATCTGG 0.353000 46 45 0 0 0.000781405 0 0 RIF1 55183 broad.mit.edu 37 2 152321761 152321761 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:152321761C>T ENST00000243326.4 + 29 6210 c.5727C>T c.(5725-5727)tcC>tcT p.S1909S RIF1_ENST00000444746.2_Silent_p.S1909S|RIF1_ENST00000453091.2_Silent_p.S1909S|RIF1_ENST00000428287.2_Silent_p.S1909S|RIF1_ENST00000430328.2_Silent_p.S1909S Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1909 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding 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) TAACAGAATCCAATCTAGAGA 0.363000 31 101 0 0 0.00283554 0 0 SP140 11262 broad.mit.edu 37 2 231103072 231103072 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231103072G>A ENST00000392045.3 + 3 496 c.382G>A c.(382-384)Gag>Aag p.E128K SP140_ENST00000343805.6_Missense_Mutation_p.E128K|SP140_ENST00000373645.3_Missense_Mutation_p.E128K|SP140_ENST00000417495.3_Missense_Mutation_p.E128K|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000350136.5_Missense_Mutation_p.E108K|SP140_ENST00000486687.2_Missense_Mutation_p.E128K|SP140_ENST00000420434.3_Missense_Mutation_p.E128K NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 128 HSR. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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) TGATTTAAACGAGATTTACAG 0.408000 24 30 0 0 0.000720815 0 0 DNAH11 8701 broad.mit.edu 37 7 21856193 21856193 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:21856193G>A ENST00000328843.6 + 65 10493 c.10462G>A c.(10462-10464)Gaa>Aaa p.E3488K DNAH11_ENST00000409508.3_Missense_Mutation_p.E3481K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3488 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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 AATGTCCACCGAAAATGCCGC 0.493000 Kartagener syndrome 15 5 0 0 0.00244969 0 0 BSN 8927 broad.mit.edu 37 3 49695089 49695089 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49695089C>T ENST00000296452.4 + 5 8214 c.8100C>T c.(8098-8100)atC>atT p.I2700I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2700 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGGTGGAGATCGTCAGGTACA 0.652000 25 83 0 0 0.001512 0 0 NMUR2 56923 broad.mit.edu 37 5 151784643 151784643 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:151784643G>A ENST00000255262.3 - 1 197 c.32C>T c.(31-33)tCc>tTc p.S11F NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 11 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GTAGATCCAGGAAGCATTCTG 0.498000 25 86 0 0 0.00106085 0 0 SEZ6 124925 broad.mit.edu 37 17 27308582 27308582 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:27308582G>A ENST00000317338.12 - 2 959 c.531C>T c.(529-531)ccC>ccT p.P177P PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.P177P|SEZ6_ENST00000442608.3_Silent_p.P177P|SEZ6_ENST00000360295.9_Silent_p.P177P Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 177 Pro-rich. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) AGGCTCTGCTGGGGGGTGTAG 0.642000 5 16 0 0 0.000602214 0 0 OCRL 4952 broad.mit.edu 37 X 128691384 128691384 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:128691384C>T ENST00000371113.4 + 5 486 c.321C>T c.(319-321)ttC>ttT p.F107F OCRL_ENST00000357121.5_Silent_p.F107F|OCRL_ENST00000486673.1_3'UTR NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 107 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GTTTGAAGTTCCTCTCAGCTG 0.453000 25 30 0 0 0.00127121 0 0 BEST3 144453 broad.mit.edu 37 12 70088168 70088168 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:70088168G>A ENST00000330891.5 - 3 455 c.229C>T c.(229-231)Cca>Tca p.P77S BEST3_ENST00000553096.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.P77S NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 77 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AAGGTTACTGGAATTTGTTCA 0.403000 14 11 0 0 0.00244969 0 0 KIAA1257 57501 broad.mit.edu 37 3 128696984 128696984 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:128696984C>T ENST00000265068.5 - 5 879 c.712G>A c.(712-714)Ggc>Agc p.G238S KIAA1257_ENST00000515659.1_Missense_Mutation_p.G126S|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G238S|KIAA1257_ENST00000510149.1_5'UTR NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 238 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 TTCTCAATGCCCTGTTCAGAT 0.368000 23 62 0 0 0.000720815 0 0 RLTPR 146206 broad.mit.edu 37 16 67681495 67681495 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67681495G>A ENST00000334583.6 + 11 1189 c.861G>A c.(859-861)ctG>ctA p.L287L RLTPR_ENST00000545661.1_Silent_p.L287L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 287 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGAACCTGCTGGATGACCGAG 0.672000 5 3 0 0 0.00198382 0 0 MEGF6 1953 broad.mit.edu 37 1 3417791 3417791 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:3417791G>A ENST00000356575.4 - 19 2622 c.2396C>T c.(2395-2397)aCc>aTc p.T799I MEGF6_ENST00000294599.4_Missense_Mutation_p.T694I NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 799 EGF-like 13. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCAGGCTCCGGTCTCAGGGTC 0.697000 5 25 0 0 0.00116845 0 0 COL4A2 1284 broad.mit.edu 37 13 111090369 111090369 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:111090369G>A ENST00000360467.5 + 14 1152 c.846G>A c.(844-846)ggG>ggA p.G282G NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 282 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding 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) GCAGTGAGGGGGAACCAGGAA 0.493000 44 3 0 0 0.000781405 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555069 76555069 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:76555069G>A ENST00000307431.8 + 17 2780 c.2395G>A c.(2395-2397)Gag>Aag p.E799K CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E803K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E727K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E751K NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 800 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTTTGATACCGAGGCTTCATA 0.323000 43 93 0 0 0.000781405 0 0 SCN10A 6336 broad.mit.edu 37 3 38753784 38753784 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38753784G>A ENST00000449082.2 - 22 3956 c.3957C>T c.(3955-3957)tcC>tcT p.S1319S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1319 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AAGGTACAAGGGAAAACTCTC 0.448000 28 101 0 0 0.00209593 0 0 KPNA2 3838 broad.mit.edu 37 17 66039435 66039435 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:66039435C>T ENST00000537025.2 + 7 1506 c.886C>T c.(886-888)Ccc>Tcc p.P296S KPNA2_ENST00000330459.3_Missense_Mutation_p.P296S P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 296 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) AGGAGTTGTGCCCCAACTTGT 0.423000 88 437 0 0 0.000781405 0 0 LRP2 4036 broad.mit.edu 37 2 170062083 170062083 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170062083A>C ENST00000263816.3 - 41 7906 c.7621T>G c.(7621-7623)Ttc>Gtc p.F2541V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2541 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGTACGCGGAAGTTTCCTCCC 0.488000 16 48 0 0 0.000566183 0 0 MME 4311 broad.mit.edu 37 3 154836577 154836577 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:154836577G>A ENST00000460393.1 + 8 817 c.697G>A c.(697-699)Gaa>Aaa p.E233K MME_ENST00000493237.1_Missense_Mutation_p.E233K|MME_ENST00000360490.2_Missense_Mutation_p.E233K|MME_ENST00000492661.1_Missense_Mutation_p.E233K|MME_ENST00000462745.1_Missense_Mutation_p.E233K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 233 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AGATTACTATGAATGCACTGG 0.284000 9 7 0 0 0.00136819 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783050 115783050 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:115783050G>A ENST00000343348.6 - 19 3139 c.2352C>T c.(2350-2352)atC>atT p.I784I SEMA6A_ENST00000513137.1_Silent_p.I211I|SEMA6A_ENST00000510263.1_Silent_p.I784I|SEMA6A_ENST00000257414.8_Silent_p.I801I|SEMA6A_ENST00000282394.6_Silent_p.I261I|SEMA6A_ENST00000503865.1_Silent_p.I163I NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 784 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGCAGGCATTGATGAGGTTCT 0.677000 17 35 0 0 0.000566183 0 0 LOC154761 154761 broad.mit.edu 37 7 143510098 143510098 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143510098G>A ENST00000494978.1 - 0 1480 NR_015421.1 CCAAGGCCAGGAAGCTATCTC 0.557000 12 35 0 0 0.000308642 0 0 VCAN 1462 broad.mit.edu 37 5 82834193 82834193 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:82834193C>T ENST00000265077.3 + 8 5936 c.5371C>T c.(5371-5373)Cct>Tct p.P1791S VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P804S NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1791 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding 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) AGATTCTACTCCTGTCTTTAC 0.433000 9 21 0 0 0.000673444 0 0 CXCR1 3577 broad.mit.edu 37 2 219029419 219029419 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:219029419G>A ENST00000295683.2 - 2 636 c.516C>T c.(514-516)ttC>ttT p.F172F NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 172 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGCGGAAAAGGAAGAAGGGCA 0.517000 13 27 0 0 0.000308642 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130381225 130381225 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:130381225G>A ENST00000529410.1 + 12 1283 c.804G>A c.(802-804)atG>atA p.M268I L3MBTL3_ENST00000526019.1_Missense_Mutation_p.M243I|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.M243I|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.M243I|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.M268I|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.M268I Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 268 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AAGTTGGCATGAAATTAGAAG 0.393000 19 14 0 0 0.00278032 0 0 COL1A1 1277 broad.mit.edu 37 17 48264133 48264133 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48264133C>T ENST00000225964.5 - 48 3800 c.3682G>A c.(3682-3684)Gac>Aac p.D1228N NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1228 axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCTCGAGGTCACGGTCACGA 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 40 125 0 0 0.000781405 0 0 CLVS1 157807 broad.mit.edu 37 8 62212699 62212699 + Silent SNP C C T rs149356822 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:62212699C>T ENST00000519846.1 + 3 785 c.313C>T c.(313-315)Ctg>Ttg p.L105L CLVS1_ENST00000325897.4_Silent_p.L105L|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 105 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCAGCTAAACCTGGACATGTT 0.517000 9 18 0 0 0.000274275 0 0 KCNH7 90134 broad.mit.edu 37 2 163693155 163693155 + Missense_Mutation SNP C C T rs138091231 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163693155C>T ENST00000332142.5 - 2 298 c.199G>A c.(199-201)Gac>Aac p.D67N KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 67 PAS. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGGAGAAAGTCGCAGGTGCAT 0.507000 9 42 0 0 0.000442599 0 0 ITGB5 3693 broad.mit.edu 37 3 124515542 124515542 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:124515542C>T ENST00000296181.4 - 10 1682 c.1386G>A c.(1384-1386)acG>acA p.T462T ITGB5_ENST00000488466.1_5'UTR NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 462 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TGCAGCCGCACGTGCAGTTGT 0.672000 12 18 0 0 0.00136819 0 0 LIPK 643414 broad.mit.edu 37 10 90486613 90486613 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:90486613G>A ENST00000404190.1 + 2 167 c.167G>A c.(166-168)gGt>gAt p.G56D NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 56 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) ACAAAAGATGGTTATATCCTT 0.333000 5 9 0 0 0.000157383 0 0 GALNT8 26290 broad.mit.edu 37 12 4855377 4855377 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:4855377G>A ENST00000252318.2 + 6 1463 c.1126G>A c.(1126-1128)Ggt>Agt p.G376S NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 376 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GTCTCTGGATGGTGGAATGCT 0.493000 23 48 0 0 0.00229938 0 0 LEPREL1 55214 broad.mit.edu 37 3 189706745 189706745 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:189706745C>T ENST00000319332.5 - 4 1103 c.906G>A c.(904-906)gaG>gaA p.E302E LEPREL1_ENST00000427335.2_Silent_p.E121E NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 302 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus 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 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GAAGAAAATTCTCGATGGGAG 0.498000 22 48 0 0 0.00229938 0 0 ABCA13 154664 broad.mit.edu 37 7 48288868 48288868 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48288868C>T ENST00000435803.1 + 15 1949 c.1925C>T c.(1924-1926)gCc>gTc p.A642V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 642 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TATTGGAAAGCCTTCAAAAAG 0.328000 11 84 0 0 0.00136819 0 0 SCAND3 114821 broad.mit.edu 37 6 28540782 28540782 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28540782A>G ENST00000452236.2 - 4 3501 c.2884T>C c.(2884-2886)Ttt>Ctt p.F962L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 962 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 caaaatttaaattccaaacca 0.368000 11 26 0 0 0.000673444 0 0 INSC 387755 broad.mit.edu 37 11 15197305 15197305 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:15197305G>A ENST00000379554.3 + 3 262 c.216G>A c.(214-216)gtG>gtA p.V72V INSC_ENST00000530161.1_Silent_p.V25V|INSC_ENST00000379556.3_Silent_p.V25V|INSC_ENST00000528567.1_Silent_p.V25V|INSC_ENST00000525218.1_Silent_p.V25V|INSC_ENST00000424273.1_Silent_p.V25V NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 72 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TGATGCAGGTGGACTCAGTCC 0.512000 5 20 0 0 0.000602214 0 0 BACH2 60468 broad.mit.edu 37 6 90660443 90660443 + Missense_Mutation SNP G G A rs144153232 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:90660443G>A ENST00000257749.4 - 7 2089 c.1382C>T c.(1381-1383)cCg>cTg p.P461L BACH2_ENST00000343122.3_Missense_Mutation_p.P461L|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.P461L NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 461 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CTTTGGCACCGGCTCAGAGAG 0.617000 24 18 0 0 0.000878237 0 0 ZNF439 90594 broad.mit.edu 37 19 11978400 11978400 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11978400C>T ENST00000304030.2 + 3 716 c.516C>T c.(514-516)tcC>tcT p.S172S ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.S36S NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 ATCACCCCTCCTTGAGAACAC 0.413000 24 105 0 0 0.00278032 0 0 AGBL2 79841 broad.mit.edu 37 11 47711717 47711717 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:47711717G>A ENST00000525123.1 - 10 1827 c.1542C>T c.(1540-1542)tcC>tcT p.S514S AGBL2_ENST00000528244.1_Silent_p.S476S|AGBL2_ENST00000357610.3_Silent_p.S514S|AGBL2_ENST00000298861.4_Silent_p.S514S|AGBL2_ENST00000529712.1_5'UTR NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 514 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TTCCGGCCAAGGAACACCGAT 0.443000 15 26 0 0 0.000422831 0 0 KCNF1 3754 broad.mit.edu 37 2 11053071 11053071 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:11053071G>A ENST00000295082.1 + 1 1009 c.519G>A c.(517-519)gaG>gaA p.E173E NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 173 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) AGTTCCTGGAGAAGCCCGAGT 0.692000 7 37 0 0 0.000157383 0 0 HOXA3 3200 broad.mit.edu 37 7 27148121 27148121 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:27148121C>T ENST00000396352.4 - 3 944 c.745G>A c.(745-747)Gat>Aat p.D249N HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.D249N NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 249 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CCCTTCTGATCCTTTTTGTAC 0.602000 22 100 0 0 0.00278032 0 0 ATP7B 540 broad.mit.edu 37 13 52520510 52520510 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:52520510G>A ENST00000242839.4 - 13 3126 c.2970C>T c.(2968-2970)gcC>gcT p.A990A ATP7B_ENST00000448424.2_Silent_p.A912A|ATP7B_ENST00000344297.5_Silent_p.A783A|ATP7B_ENST00000417240.2_Silent_p.A262A|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000400366.3_Silent_p.A879A|ATP7B_ENST00000400370.3_Silent_p.A560A|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 990 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCGTGGGCGTGGCCAGCCCCA 0.637000 Wilson disease 23 0 0 0 0.00278032 0 0 RUFY4 285180 broad.mit.edu 37 2 218953976 218953976 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:218953976G>A ENST00000374155.3 + 11 1974 c.1562_splice c.e11-1 p.E522_splice RUFY4_ENST00000344321.7_Splice_Site_p.E502_splice|RUFY4_ENST00000441828.2_3'UTR Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 502 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCCCATCAGAGAGAAGGACCG 0.537000 6 21 0 0 0.00198382 0 0 XDH 7498 broad.mit.edu 37 2 31573079 31573079 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:31573079C>T ENST00000379416.3 - 25 2690 c.2642G>A c.(2641-2643)cGa>cAa p.R881Q NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 881 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.R881Q(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GAATAAAGCTCGTTCCATAAT 0.498000 23 70 0 0 0.00278032 0 0 KCNT2 343450 broad.mit.edu 37 1 196448350 196448350 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:196448350T>C ENST00000367433.5 - 5 444 c.343A>G c.(343-345)Agt>Ggt p.S115G KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.S115G|KCNT2_ENST00000294725.8_Missense_Mutation_p.S115G Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 115 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TCAAACAGACTTATCAATGCC 0.279000 9 46 0 0 0.000978159 0 0 RBP3 5949 broad.mit.edu 37 10 48389662 48389662 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:48389662C>T ENST00000224600.4 - 1 1329 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 406 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.E406K(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGTGAGTCTTCGGCTGCAGCG 0.652000 11 59 0 0 0.00136819 0 0 CLTB 1212 broad.mit.edu 37 5 175824609 175824609 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:175824609G>A ENST00000310418.4 - 4 668 c.464_splice c.e4+1 p.R155_splice CLTB_ENST00000345807.2_Splice_Site_p.R155_splice NM_007097.3 NP_009028.1 P09497 CLCB_HUMAN clathrin, light chain B 155 Involved in binding clathrin heavy chain. intracellular protein transport|vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle protein binding|structural molecule activity lung(1) 1 all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.098) CCCTCTCACCGGTTGTTGATC 0.602000 22 53 0 0 0.00229938 0 0 SYNE1 23345 broad.mit.edu 37 6 152553250 152553250 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:152553250C>T ENST00000367255.5 - 113 21464 c.e113+1 SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_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 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) ATTTTAATTACCTTATATTTC 0.249000 HNSCC(10;0.0054) 8 25 0 0 0.000673444 0 0 TRPV6 55503 broad.mit.edu 37 7 142570143 142570143 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142570143C>T ENST00000359396.3 - 14 2122 c.1877G>A c.(1876-1878)gGa>gAa p.G626E NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 626 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CCAGCGGTCTCCCAGGCCATA 0.647000 14 15 0 0 0.00244969 0 0 GRIA1 2890 broad.mit.edu 37 5 153029980 153029980 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:153029980G>A ENST00000285900.5 + 4 894 c.551G>A c.(550-552)gGa>gAa p.G184E GRIA1_ENST00000521843.2_Missense_Mutation_p.G115E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G194E|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.G104E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G194E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G184E NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 184 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACAGAGGAGGGATACCGGATG 0.512000 23 36 0 0 0.000586117 0 0 DFNA5 1687 broad.mit.edu 37 7 24749959 24749959 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:24749959C>T ENST00000545231.1 - 8 1404 c.254G>A c.(253-255)aGa>aAa p.R85K DFNA5_ENST00000409775.3_Missense_Mutation_p.R249K|DFNA5_ENST00000342947.3_Missense_Mutation_p.R249K|DFNA5_ENST00000409970.1_Missense_Mutation_p.R85K|DFNA5_ENST00000419307.1_Missense_Mutation_p.R85K|DFNA5_ENST00000559637.1_5'UTR O60443 DFNA5_HUMAN deafness, autosomal dominant 5 249 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 AGAGTCAATTCTCTTCTTGTT 0.488000 31 113 0 0 0.00058488 0 0 ARNTL 406 broad.mit.edu 37 11 13387074 13387074 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:13387074G>A ENST00000389708.3 + 10 842 c.487G>A c.(487-489)Gga>Aga p.G163R ARNTL_ENST00000396441.3_Missense_Mutation_p.G163R|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403290.1_Missense_Mutation_p.G163R|ARNTL_ENST00000361003.4_Missense_Mutation_p.G163R|ARNTL_ENST00000403510.3_Missense_Mutation_p.G120R|ARNTL_ENST00000401424.1_Missense_Mutation_p.G120R|ARNTL_ENST00000389707.4_Missense_Mutation_p.G163R|ARNTL_ENST00000403482.3_Missense_Mutation_p.G161R O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 163 PAS 1. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) GTTTGTCGTAGGATGTGACCG 0.413000 20 23 0 0 0.000720815 0 0 SYNJ2 8871 broad.mit.edu 37 6 158517304 158517304 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:158517304C>T ENST00000355585.4 + 27 4474 c.4399C>T c.(4399-4401)Cat>Tat p.H1467Y SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1422Y|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H552Y NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1467 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GCCACCAGATCATGAACACAA 0.527000 17 18 0 0 0.000958276 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554584 20554584 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20554584C>T ENST00000329697.6 - 11 1450 c.1281_splice c.e11-1 p.E428_splice ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 428 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCGGGATTTTCCTGGTGACCA 0.483000 27 72 0 0 0.00106085 0 0 COL26A1 136227 broad.mit.edu 37 7 101200881 101200881 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:101200881C>T ENST00000313669.7 + 0 1586 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 GCCGCTGTTTCCTAAAGATGC 0.622000 6 1 0 0 0.00116845 0 0 ACTC1 70 broad.mit.edu 37 15 35083467 35083467 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:35083467T>G ENST00000290378.4 - 6 1493 c.838A>C c.(838-840)Act>Cct p.T280P RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 280 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 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) CTATTGTAAGTTGTTTCATGG 0.463000 41 54 0 0 0.00148497 0 0 FBLN2 2199 broad.mit.edu 37 3 13613143 13613143 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:13613143C>T ENST00000404922.3 + 2 1407 c.1288C>T c.(1288-1290)Ccc>Tcc p.P430S FBLN2_ENST00000535798.1_Missense_Mutation_p.P456S|FBLN2_ENST00000295760.7_Missense_Mutation_p.P430S|FBLN2_ENST00000492059.1_Missense_Mutation_p.P430S NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 430 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCATTCTATCCCCAGAAGTAG 0.612000 5 18 0 0 0.000602214 0 0 EYA2 2139 broad.mit.edu 37 20 45618738 45618738 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:45618738G>A ENST00000327619.5 + 2 463 c.89G>A c.(88-90)tGg>tAg p.W30* EYA2_ENST00000357410.3_Nonsense_Mutation_p.W30*|EYA2_ENST00000317304.6_Nonsense_Mutation_p.W30* NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 30 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GCTGCTGTGTGGACTCTGAGT 0.493000 16 39 0 0 0.000958276 0 0 ATP6V1A 523 broad.mit.edu 37 3 113528256 113528256 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:113528256C>T ENST00000273398.3 + 15 1944 c.1836C>T c.(1834-1836)ttC>ttT p.F612F ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Silent_p.F579F NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 612 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAATGCATTCCGTAGCCTTG 0.388000 13 29 0 0 0.00244969 0 0 PIAS3 10401 broad.mit.edu 37 1 145580376 145580376 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145580376C>T ENST00000369299.3 + 6 949 c.831C>T c.(829-831)aaC>aaT p.N277N PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000393045.2_Intron Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 0 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGAAGGGGAACCATCCAGTGT 0.527000 17 82 0 0 0.00121646 0 0 MPP7 143098 broad.mit.edu 37 10 28378745 28378745 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:28378745A>G ENST00000337532.5 - 13 1254 c.978T>C c.(976-978)ctT>ctC p.L326L MPP7_ENST00000375719.3_Silent_p.L326L|MPP7_ENST00000445954.2_Silent_p.L201L|MPP7_ENST00000540098.1_Silent_p.L326L|MPP7_ENST00000375732.1_Silent_p.L326L NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 326 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 CTTTTCTACTAAGACGAAAAC 0.323000 13 15 0 0 0.00136819 0 0 ATP2B3 492 broad.mit.edu 37 X 152835065 152835065 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:152835065A>T ENST00000370186.1 + 20 3631 c.3305A>T c.(3304-3306)gAg>gTg p.E1102V ATP2B3_ENST00000349466.2_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1116V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1102V|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1102V Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1116 Calmodulin-binding subdomain A (By similarity). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACAGATGGAGGTAGTGAGT 0.557000 50 61 0 0 0.000781405 0 0 KCNA5 3741 broad.mit.edu 37 12 5155047 5155047 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5155047G>A ENST00000252321.3 + 1 1963 c.1734G>A c.(1732-1734)agG>agA p.R578R NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 578 R -> K (in dbSNP:rs12720445). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GTGCCCGAAGGGGCAGCTGCC 0.637000 13 21 0 0 0.00185496 0 0 ITGB8 3696 broad.mit.edu 37 7 20420314 20420314 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:20420314C>T ENST00000222573.3 + 5 1345 c.661C>T c.(661-663)Ccc>Tcc p.P221S ITGB8_ENST00000537992.1_Missense_Mutation_p.P86S NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 221 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CTGCATGCCTCCCCATGGATA 0.383000 21 94 0 0 0.00229938 0 0 CRISP3 10321 broad.mit.edu 37 6 49704164 49704164 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:49704164C>T ENST00000433368.2 - 3 267 c.198G>A c.(196-198)gtG>gtA p.V66V CRISP3_ENST00000263045.4_Silent_p.V56V|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Silent_p.V43V|CRISP3_ENST00000371159.4_Silent_p.V74V NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 43 innate immune response proteinaceous extracellular matrix|specific granule p.V43V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TGTGCTTATTCACAATCTCCC 0.413000 31 39 0 0 0.00058488 0 0 DMBT1 1755 broad.mit.edu 37 10 124380882 124380882 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124380882G>A ENST00000338354.3 + 41 5313 c.5207G>A c.(5206-5208)gGt>gAt p.G1736D DMBT1_ENST00000368909.3_Missense_Mutation_p.G1736D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1726D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1108D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1108D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1726D Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1736 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GAAGACGCTGGTGTCATCTGC 0.562000 55 22 0 0 0.000781405 0 0 PSMD1 5707 broad.mit.edu 37 2 231931703 231931703 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231931703T>A ENST00000308696.6 + 5 550 c.388T>A c.(388-390)Ttg>Atg p.L130M PSMD1_ENST00000373635.4_Missense_Mutation_p.L130M|PSMD1_ENST00000409643.1_Missense_Mutation_p.L130M NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 130 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TGACCAGAGATTGGAAGGCAT 0.393000 11 22 0 0 0.00136819 0 0 BRINP2 57795 broad.mit.edu 37 1 177249834 177249834 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:177249834G>A ENST00000361539.4 + 8 1834 c.1522G>A c.(1522-1524)Gac>Aac p.D508N FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 508 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCTGGAGACAGACTTGCAGGA 0.597000 26 26 0 0 0.001512 0 0 COL17A1 1308 broad.mit.edu 37 10 105824202 105824202 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105824202C>T ENST00000353479.5 - 10 1050 c.760G>A c.(760-762)Gga>Aga p.G254R COL17A1_ENST00000369733.3_Missense_Mutation_p.G254R|COL17A1_ENST00000393211.3_Missense_Mutation_p.G254R NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 254 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GTACCTGATCCCGCAGAGTAG 0.597000 16 10 0 0 0.00074312 0 0 IL17C 27189 broad.mit.edu 37 16 88705457 88705457 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:88705457G>A ENST00000244241.4 + 2 124 c.75G>A c.(73-75)agG>agA p.R25R NM_013278.3 NP_037410.1 Q9P0M4 IL17C_HUMAN interleukin 17C 25 R -> G (in dbSNP:rs11465492). cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) CCTCCCTCAGGGGGCACCCCC 0.672000 38 55 0 0 0.0025221 0 0 MAP9 79884 broad.mit.edu 37 4 156268978 156268978 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:156268978G>A ENST00000311277.4 - 14 2164 c.1901C>T c.(1900-1902)cCg>cTg p.P634L AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.P610L|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 634 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) AGGGCTCCACGGAGGAAGTGC 0.358000 4 6 0 0 0.000602214 0 0 SCN1A 6323 broad.mit.edu 37 2 166848472 166848472 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166848472G>A ENST00000423058.2 - 26 5330 c.5313C>T c.(5311-5313)atC>atT p.I1771I AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1760I|SCN1A_ENST00000303395.4_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1743I NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1771 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAAGGATATGATGATGTAAC 0.458000 14 48 0 0 0.00244969 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886032 88886032 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:88886032C>T ENST00000319675.3 - 1 264 c.168G>A c.(166-168)agG>agA p.R56R NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 56 p.R56S(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGACCTTTTTCCTCTGCATGC 0.502000 29 49 0 0 0.001512 0 0 FANCG 2189 broad.mit.edu 37 9 35078706 35078706 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35078706G>A ENST00000378643.3 - 3 694 c.203C>T c.(202-204)cCc>cTc p.P68L NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 68 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CAGCTCCAAGGGAAGAACAGG 0.532000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 8 60 0 0 0.000442599 0 0 ABCA13 154664 broad.mit.edu 37 7 48313192 48313192 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48313192C>T ENST00000435803.1 + 17 3953 c.3929C>T c.(3928-3930)tCa>tTa p.S1310L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1310 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GACTTTCTTTCAAATAATCTC 0.294000 4 20 0 0 0.00024832 0 0 FLG 2312 broad.mit.edu 37 1 152276668 152276668 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152276668C>T ENST00000368799.1 - 3 10729 c.10694G>A c.(10693-10695)gGa>gAa p.G3565E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3565 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGCAGATCCACGATGGTT 0.567000 Ichthyosis 56 320 0 0 0.000781405 0 0 OR2A25 392138 broad.mit.edu 37 7 143771558 143771558 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143771558G>A ENST00000408898.2 + 1 284 c.246G>A c.(244-246)gtG>gtA p.V82V NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) AGATGCTGGTGAACCTCCTGC 0.557000 12 43 0 0 0.00185496 0 0 ZNF582 147948 broad.mit.edu 37 19 56896082 56896082 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56896082G>A ENST00000301310.4 - 5 862 c.704C>T c.(703-705)gCc>gTc p.A235V ZNF582_ENST00000586929.1_Missense_Mutation_p.A235V NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) AGAATTGAAGGCCTTTCCACA 0.373000 18 49 0 0 0.000958276 0 0 SHB 6461 broad.mit.edu 37 9 37919910 37919910 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:37919910C>T ENST00000377707.3 - 6 2003 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K RP11-613M10.9_ENST00000540557.1_Intron NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 480 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TGGATGACTTCCGGGACACTG 0.532000 45 29 0 0 0.00285205 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769554 15769554 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15769554C>T ENST00000221307.7 + 12 1380 c.1332C>T c.(1330-1332)cgC>cgT p.R444R CYP4F3_ENST00000585846.1_Silent_p.R444R|CYP4F3_ENST00000586182.1_Silent_p.R444R|CYP4F3_ENST00000591058.1_Silent_p.R444R NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 444 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 ACCCCTTTCGCTTTGACCCAA 0.592000 36 93 0 0 0.00111076 0 0 GRIN2B 2904 broad.mit.edu 37 12 13828756 13828756 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:13828756A>T ENST00000279593.3 - 4 1257 c.1048T>A c.(1048-1050)Tcc>Acc p.S350T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 350 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACTGAAGGACAAATTCCTC 0.398000 16 24 0 0 0.00074312 0 0 HECTD4 283450 broad.mit.edu 37 12 112622558 112622558 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:112622558G>A ENST00000550722.1 - 61 10169 c.9774C>T c.(9772-9774)atC>atT p.I3258I HECTD4_ENST00000430131.2_Silent_p.I2982I|HECTD4_ENST00000377560.5_Silent_p.I3232I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GGTGGGTGGGGATCCCGGAGA 0.687000 33 76 0 0 0.0024448 0 0 DFNA5 1687 broad.mit.edu 37 7 24745866 24745866 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:24745866G>A ENST00000545231.1 - 10 1778 c.628C>T c.(628-630)Ccc>Tcc p.P210S DFNA5_ENST00000409775.3_Missense_Mutation_p.P374S|DFNA5_ENST00000342947.3_Missense_Mutation_p.P374S|DFNA5_ENST00000409970.1_Missense_Mutation_p.P210S|DFNA5_ENST00000419307.1_Missense_Mutation_p.P210S O60443 DFNA5_HUMAN deafness, autosomal dominant 5 374 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GCATCCTCGGGGCCCGGACAC 0.597000 29 48 0 0 0.0024448 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369960 20369960 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:20369960G>A ENST00000593655.1 - 0 199 TTTCTGGAGGGTCTACTATGT 0.398000 13 51 0 0 0.00185496 0 0 SCN11A 11280 broad.mit.edu 37 3 38966958 38966958 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38966958G>A ENST00000302328.3 - 5 858 c.660C>T c.(658-660)ccC>ccT p.P220P SCN11A_ENST00000444237.2_Silent_p.P220P|SCN11A_ENST00000450244.1_Silent_p.P220P|SCN11A_ENST00000456224.3_Silent_p.P220P NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 220 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity 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) AGGTACGCAGGGGCAATAGTT 0.463000 10 38 0 0 0.000673444 0 0 CPXM2 119587 broad.mit.edu 37 10 125650903 125650903 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:125650903C>T ENST00000241305.3 - 1 427 c.273G>A c.(271-273)agG>agA p.R91R CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 91 Pro-rich. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCGACTTCTCCCTCTTGGGAG 0.726000 5 7 0 0 0.00116845 0 0 LONRF2 164832 broad.mit.edu 37 2 100915380 100915380 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:100915380C>T ENST00000393437.3 - 7 2033 c.1394G>A c.(1393-1395)gGa>gAa p.G465E LONRF2_ENST00000409647.1_Missense_Mutation_p.G222E NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 465 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 AAATGTGTGTCCACAGGGCGT 0.443000 119 156 0 0 0.000781405 0 0 ACACB 32 broad.mit.edu 37 12 109639470 109639470 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109639470C>A ENST00000338432.7 + 19 2996 c.2877C>A c.(2875-2877)gcC>gcA p.A959A ACACB_ENST00000377854.5_Silent_p.A959A|ACACB_ENST00000377848.3_Silent_p.A959A O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 959 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCGTGGTGGCCAGGCTGGAGC 0.592000 32 26 1.62565e-12 5.99664e-12 0.0024448 1 0 DEFA4 1669 broad.mit.edu 37 8 6793604 6793604 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:6793604G>A ENST00000297435.2 - 3 356 c.232C>T c.(232-234)Cgt>Tgt p.R78C NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 78 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TTCCCAACACGAAGTTCTGTT 0.507000 37 49 0 0 0.00128727 0 0 FCRL2 79368 broad.mit.edu 37 1 157738411 157738411 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:157738411A>C ENST00000361516.3 - 5 724 c.676T>G c.(676-678)Tgc>Ggc p.C226G FCRL2_ENST00000392274.3_Missense_Mutation_p.C226G|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 226 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCACTGAGCAGAGCAGGATC 0.522000 38 179 0 0 0.00170553 0 0 OR5D16 390144 broad.mit.edu 37 11 55606658 55606658 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55606658C>T ENST00000378396.1 + 1 431 c.431C>T c.(430-432)gCc>gTc p.A144V NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) AAACTCTGTGCCATGCTGGTG 0.453000 15 13 0 0 0.000422831 0 0 CCDC63 160762 broad.mit.edu 37 12 111342572 111342572 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:111342572C>T ENST00000308208.5 + 11 1765 c.1523C>T c.(1522-1524)cCc>cTc p.P508L CCDC63_ENST00000545036.1_Missense_Mutation_p.P468L|CCDC63_ENST00000552694.1_Missense_Mutation_p.P429L NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 508 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GGGGCTGACCCCTTCAGCGAC 0.592000 10 40 0 0 0.00136819 0 0 SYNPO 11346 broad.mit.edu 37 5 150028561 150028561 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150028561C>T ENST00000394243.1 + 3 1830 c.1456C>T c.(1456-1458)Cct>Tct p.P486S SYNPO_ENST00000522122.1_Missense_Mutation_p.P486S|SYNPO_ENST00000307662.4_Missense_Mutation_p.P242S|SYNPO_ENST00000519664.1_Missense_Mutation_p.P242S NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 486 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGGCCAGGCCTTTTGGGAT 0.647000 23 40 0 0 0.00188189 0 0 GJB5 2709 broad.mit.edu 37 1 35223641 35223641 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35223641C>T ENST00000338513.1 + 2 883 c.710C>T c.(709-711)tCc>tTc p.S237F NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 237 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) ACCACCTCTTCCTGCAAACAA 0.557000 35 69 0 0 0.000953801 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257788 41257788 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:41257788C>T ENST00000307221.4 - 1 342 c.211G>A c.(211-213)Gaa>Aaa p.E71K XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 71 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TTTAATCCTTCTGTGCCATAT 0.348000 59 372 0 0 0.000781405 0 0 SCUBE1 80274 broad.mit.edu 37 22 43619186 43619186 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:43619186G>A ENST00000360835.3 - 11 1370 c.1244C>T c.(1243-1245)cCc>cTc p.P415L NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 415 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CTGGGCCCGGGGGGAGGTCTT 0.647000 32 223 0 0 0.000692331 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50471821 50471821 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:50471821T>A ENST00000435965.1 - 3 501 c.328A>T c.(328-330)Aat>Tat p.N110Y CACNA2D2_ENST00000479441.1_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.N41Y|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.N110Y Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 110 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGAGGCTCATTCTCCTGTACC 0.572000 61 48 0 0 0.000781405 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144930624 144930624 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:144930624C>A ENST00000529945.1 - 1 1524 c.1085G>T c.(1084-1086)tGg>tTg p.W362L PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.W362L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 12 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAGATCATCCCACAGCTCCTG 0.483000 T PDGFRB MPD 8 231 0.000442599 0.00162127 0.000442599 1 0 CHST5 23563 broad.mit.edu 37 16 75563490 75563490 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:75563490G>A ENST00000336257.3 - 3 2187 c.793C>T c.(793-795)Cgc>Tgc p.R265C CHST5_ENST00000541075.1_Missense_Mutation_p.R271C|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 265 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CACACCTCGCGAATCAGGCGC 0.716000 19 46 0 0 0.00074312 0 0 CXorf61 203413 broad.mit.edu 37 X 115593146 115593146 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:115593146G>A ENST00000371894.4 - 2 250 c.104C>T c.(103-105)tCa>tTa p.S35L NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 35 integral to membrane|plasma membrane breast(1)|large_intestine(3)|lung(8) 12 AAGAGCAGTTGAATTTGATGA 0.373000 18 25 0 0 0.00278032 0 0 AXDND1 126859 broad.mit.edu 37 1 179414189 179414189 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:179414189G>A ENST00000367618.3 + 16 2035 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K AXDND1_ENST00000457238.2_Missense_Mutation_p.E550K|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 550 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ACATTTACAGGAAAACTGGGC 0.378000 61 48 0 0 0.000781405 0 0 LY9 4063 broad.mit.edu 37 1 160793326 160793326 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160793326C>T ENST00000263285.5 + 8 1600 c.1570C>T c.(1570-1572)Cct>Tct p.P524S LY9_ENST00000368040.1_Missense_Mutation_p.P162S|LY9_ENST00000341032.4_Splice_Site|LY9_ENST00000368041.2_Missense_Mutation_p.P394S|LY9_ENST00000368035.1_Missense_Mutation_p.P162S NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 524 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCCCCTCAGGCCTGCCAGGCA 0.562000 17 47 0 0 0.000958276 0 0 VN1R4 317703 broad.mit.edu 37 19 53770738 53770738 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53770738C>T ENST00000311170.4 - 1 234 c.181G>A c.(181-183)Gga>Aga p.G61R NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 61 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TGGGGGACTCCTTTACAGCGG 0.463000 HNSCC(26;0.072) 26 21 0 0 0.00058488 0 0 ZEB2 9839 broad.mit.edu 37 2 145158812 145158812 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:145158812G>A ENST00000558170.2 - 7 2054 c.870C>T c.(868-870)gcC>gcT p.A290A ZEB2_ENST00000409487.3_Silent_p.A290A|ZEB2_ENST00000539609.3_Silent_p.A266A|ZEB2_ENST00000303660.4_Silent_p.A290A NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 290 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TATATTTGAAGGCCTTGCCAC 0.443000 75 86 0 0 0.000781405 0 0 FHOD1 29109 broad.mit.edu 37 16 67263792 67263792 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67263792C>T ENST00000258201.4 - 21 3563 c.3316G>A c.(3316-3318)Gag>Aag p.E1106K FHOD1_ENST00000567687.1_Missense_Mutation_p.E685K NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1106 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TCCATGATCTCATCTGATGTA 0.572000 26 52 0 0 0.000720815 0 0 C9orf84 158401 broad.mit.edu 37 9 114464453 114464453 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:114464453C>T ENST00000394779.3 - 19 2956 c.2712G>A c.(2710-2712)ctG>ctA p.L904L C9orf84_ENST00000374287.3_Silent_p.L943L|C9orf84_ENST00000318737.4_Silent_p.L943L|C9orf84_ENST00000394777.4_Silent_p.L869L NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 943 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ATAATGCCATCAGCCTCATAA 0.284000 17 35 0 0 0.000566183 0 0 NLRP3 114548 broad.mit.edu 37 1 247608119 247608119 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:247608119C>T ENST00000366497.2 + 8 3616 c.2836C>T c.(2836-2838)Ctg>Ttg p.L946L NLRP3_ENST00000391828.3_Silent_p.L1003L|NLRP3_ENST00000366496.2_Silent_p.L946L|NLRP3_ENST00000348069.2_Silent_p.L889L|NLRP3_ENST00000391827.2_Silent_p.L946L|NLRP3_ENST00000336119.3_Silent_p.L1003L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 1003 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCTGCAGAACCTGGGGTGAGT 0.552000 4 31 0 0 0.00024832 0 0 FAM3D 131177 broad.mit.edu 37 3 58629399 58629399 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:58629399G>A ENST00000358781.2 - 6 622 c.312C>T c.(310-312)gcC>gcT p.A104A NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 104 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) CATTCACCAGGGCGATGTTTA 0.498000 20 95 0 0 0.000586117 0 0 FAM69A 388650 broad.mit.edu 37 1 93316481 93316481 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:93316481C>T ENST00000370310.4 - 3 291 c.221G>A c.(220-222)gGg>gAg p.G74E NM_001006605.4|NM_001252269.1|NM_001252271.1 NP_001006606.2|NP_001239198.1|NP_001239200.1 Q5T7M9 FA69A_HUMAN family with sequence similarity 69, member A 74 endoplasmic reticulum membrane|integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 4 all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127) ACATGCAGGCCCATCAATAAC 0.338000 5 27 0 0 0.00116845 0 0 DNAH3 55567 broad.mit.edu 37 16 20946785 20946785 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20946785G>A ENST00000261383.3 - 61 11881 c.11882C>T c.(11881-11883)cCt>cTt p.P3961L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3961 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAATACCACAGGGGGCCCCTT 0.413000 12 18 0 0 0.00136819 0 0 BUD13 84811 broad.mit.edu 37 11 116628539 116628539 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:116628539C>T ENST00000260210.4 - 8 1650 c.1627G>A c.(1627-1629)Gac>Aac p.D543N BUD13_ENST00000375445.3_Missense_Mutation_p.D409N NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 543 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GCCATAGGGTCCCCCTCTCTT 0.453000 191 251 0 0 0.000781405 0 0 GAS2L2 246176 broad.mit.edu 37 17 34074223 34074223 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:34074223C>T ENST00000254466.6 - 5 924 c.897G>A c.(895-897)caG>caA p.Q299Q GAS2L2_ENST00000587565.1_Silent_p.Q283Q NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 299 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGGTCCATCCTGTACCCTTA 0.587000 72 112 0 0 0.000781405 0 0 SLC28A2 9153 broad.mit.edu 37 15 45545460 45545460 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:45545460A>T ENST00000347644.3 + 2 112 c.47A>T c.(46-48)gAg>gTg p.E16V CTD-2651B20.3_ENST00000559003.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 16 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TCCACAGTGGAGACTGGCACA 0.507000 8 14 0 0 0.000442599 0 0 CCR9 10803 broad.mit.edu 37 3 45943249 45943249 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:45943249A>T ENST00000357632.2 + 3 1149 c.969A>T c.(967-969)agA>agT p.R323S CCR9_ENST00000355983.2_Missense_Mutation_p.R311S|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.R311S NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 323 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) TGGGTGAGAGATTCCGCCGGG 0.517000 14 57 0 0 0.00185496 0 0 SUN3 256979 broad.mit.edu 37 7 48046893 48046893 + Missense_Mutation SNP G G A rs139673000 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48046893G>A ENST00000453192.2 - 6 568 c.325C>T c.(325-327)Cgt>Tgt p.R109C SUN3_ENST00000395572.2_Missense_Mutation_p.R121C|SUN3_ENST00000297325.4_Missense_Mutation_p.R121C|SUN3_ENST00000412142.1_Missense_Mutation_p.R21C Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 121 integral to membrane p.R121C(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGAATTTGACGAAAATTGTTT 0.403000 10 74 0 0 0.000442599 0 0 SLFN11 91607 broad.mit.edu 37 17 33680930 33680930 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33680930C>T ENST00000394566.1 - 6 1619 c.1347G>A c.(1345-1347)ctG>ctA p.L449L SLFN11_ENST00000308377.4_Silent_p.L449L NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 449 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTGCAAGTTCAGGTCCACAG 0.473000 27 42 0 0 0.00209593 0 0 MYOZ1 58529 broad.mit.edu 37 10 75397560 75397560 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:75397560A>G ENST00000359322.4 - 3 558 c.194T>C c.(193-195)aTg>aCg p.M65T NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 65 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CTCCACCCTCATCTGCCGCAG 0.483000 55 64 0 0 0.000781405 0 0 ANK3 288 broad.mit.edu 37 10 61831209 61831209 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:61831209G>A ENST00000280772.1 - 37 9621 c.9430C>T c.(9430-9432)Ccc>Tcc p.P3144S ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3144 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTACCTTGGGGAGAAGGAGGT 0.433000 32 28 0 0 0.00209593 0 0 CACNA1D 776 broad.mit.edu 37 3 53707790 53707790 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:53707790G>A ENST00000288139.3 + 8 1285 c.1167G>A c.(1165-1167)ctG>ctA p.L389L CACNA1D_ENST00000498251.1_Intron|CACNA1D_ENST00000350061.5_Intron|CACNA1D_ENST00000422281.2_Intron NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 389 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTGTTAGTCTGATCATCCTTG 0.443000 22 90 0 0 0.000878237 0 0 AGAP11 119385 broad.mit.edu 37 10 88769434 88769434 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:88769434C>T ENST00000444431.1 + 0 4034 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CACATGGCTCCCGTGAGGAGG 0.672000 38 64 0 0 0.00195071 0 0 SHANK1 50944 broad.mit.edu 37 19 51219543 51219543 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51219543G>A ENST00000293441.1 - 2 466 c.448C>T c.(448-450)Ccc>Tcc p.P150S SHANK1_ENST00000359082.3_Missense_Mutation_p.P150S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P150S NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 150 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCAGGTAGGGGACCCCCTTC 0.582000 20 74 0 0 0.000958276 0 0 SCN9A 6335 broad.mit.edu 37 2 167129170 167129170 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:167129170C>T ENST00000375387.4 - 17 3433 c.3093G>A c.(3091-3093)ctG>ctA p.L1031L AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.L1019L|SCN9A_ENST00000303354.6_Silent_p.L1031L|SCN9A_ENST00000409435.1_Silent_p.L1030L Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1030 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTAGTATTCAGATCTTCTG 0.328000 7 20 0 0 0.000157383 0 0 MFI2 4241 broad.mit.edu 37 3 196737597 196737597 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:196737597C>T ENST00000296350.5 - 10 1415 c.1302G>A c.(1300-1302)ctG>ctA p.L434L NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 434 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CTGCGGGAACCAGGCCGTACG 0.612000 13 44 0 0 0.000422831 0 0 KSR1 8844 broad.mit.edu 37 17 25928939 25928939 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:25928939T>C ENST00000398988.3 + 13 1565 c.1120T>C c.(1120-1122)Tgg>Cgg p.W374R KSR1_ENST00000509603.2_Intron|KSR1_ENST00000268763.6_Missense_Mutation_p.W374R|KSR1_ENST00000581975.1_Intron|KSR1_ENST00000319524.6_Missense_Mutation_p.W511R NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 509 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TGGCCATTGCTGGAAATGCCT 0.443000 OREG0024261 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 15 0 0 0.000673444 0 0 SELENBP1 8991 broad.mit.edu 37 1 151337081 151337081 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:151337081G>A ENST00000426705.2 - 12 1627 c.1483C>T c.(1483-1485)Cca>Tca p.P495S SELENBP1_ENST00000368868.5_Missense_Mutation_p.P453S|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P391S|SELENBP1_ENST00000435071.1_Missense_Mutation_p.P389S NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 453 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|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) GCAAGGGCTGGGCCAAGGGGC 0.567000 68 56 0 0 0.000781405 0 0 IGHA1 3493 broad.mit.edu 37 14 106173490 106173490 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106173490G>A ENST00000390547.2 - 0 1076 TCAGGGGTGGGGACAGGCGGG 0.617000 18 31 0 0 0.001512 0 0 SERPINA1 5265 broad.mit.edu 37 14 94844884 94844884 + Missense_Mutation SNP C C T rs121912712 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:94844884C>T ENST00000448921.1 - 7 1731 c.1159G>A c.(1159-1161)Gag>Aag p.E387K SERPINA1_ENST00000437397.1_Missense_Mutation_p.E387K|SERPINA1_ENST00000393088.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000440909.1_Missense_Mutation_p.E387K|SERPINA1_ENST00000404814.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000393087.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000355814.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000449399.3_Missense_Mutation_p.E387K NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 387 RCL. E -> K (in Christchurch). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AACTTGACCTCGGGGGGGATA 0.488000 20 63 0 0 0.00121646 0 0 CACNA1G 8913 broad.mit.edu 37 17 48653522 48653522 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48653522G>A ENST00000352832.5 + 8 2131 c.1759G>A c.(1759-1761)Ggg>Agg p.G587R CACNA1G_ENST00000515411.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G587R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G587R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G587R|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G587R|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G587R|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G587R|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G587R|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G587R|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G587R NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 587 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGTGGGCAGCGGGAAGGTGTA 0.657000 5 7 0 0 0.000602214 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336230 147336230 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:147336230T>G ENST00000361727.3 + 13 2446 c.1930T>G c.(1930-1932)Ttg>Gtg p.L644V NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 644 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTCTCATGACTTGCAGATGCA 0.478000 HNSCC(39;0.1) 29 111 0 0 0.00058488 0 0 MYH10 4628 broad.mit.edu 37 17 8449957 8449957 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:8449957G>A ENST00000360416.3 - 12 1321 c.1183C>T c.(1183-1185)Ctt>Ttt p.L395F MYH10_ENST00000269243.4_Missense_Mutation_p.L385F|MYH10_ENST00000396239.1_Missense_Mutation_p.L385F|MYH10_ENST00000379980.4_Missense_Mutation_p.L401F NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 385 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTCATCCCAAGAAGATGGCAG 0.438000 20 22 0 0 0.00188189 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49368804 49368804 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49368804C>T ENST00000263265.6 - 3 703 c.148G>A c.(148-150)Gat>Aat p.D50N PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D50N NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 50 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) AGGTTGGGATCCCTCCTGAGC 0.577000 21 30 0 0 0.000720815 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509277 106509277 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:106509277C>T ENST00000359195.3 + 2 1581 c.1271C>T c.(1270-1272)cCc>cTc p.P424L PIK3CG_ENST00000440650.2_Missense_Mutation_p.P424L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P424L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 424 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AAAGACTTGCCCAAAGGGGCT 0.522000 48 3 0 0 0.000781405 0 0 SPEF2 79925 broad.mit.edu 37 5 35740050 35740050 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35740050G>A ENST00000440995.2 + 22 3078 c.3078G>A c.(3076-3078)tgG>tgA p.W1026* SPEF2_ENST00000356031.3_Nonsense_Mutation_p.W1031*|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1031 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TACCTTACTGGGAACTAATAG 0.338000 16 31 0 0 0.000422831 0 0 ABCC4 10257 broad.mit.edu 37 13 95673930 95673930 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:95673930A>G ENST00000376887.4 - 31 3991 c.3877T>C c.(3877-3879)Ttc>Ctc p.F1293L ABCC4_ENST00000412704.1_Missense_Mutation_p.F1246L NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1293 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTTCTTTTGAAGTATACCTAG 0.368000 39 2 0 0 0.00285205 0 0 KIAA1217 56243 broad.mit.edu 37 10 24834803 24834803 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:24834803C>T ENST00000376454.3 + 21 5412 c.5382C>T c.(5380-5382)tcC>tcT p.S1794S KIAA1217_ENST00000458595.1_Silent_p.S1200S|KIAA1217_ENST00000376462.1_Silent_p.S1115S|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Silent_p.S1225S|KIAA1217_ENST00000376451.2_3'UTR NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1794 Ser-rich. embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGCCTACTTCCCCCTCCTTAC 0.488000 26 40 0 0 0.000586117 0 0 PRDM2 7799 broad.mit.edu 37 1 14107394 14107394 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:14107394C>T ENST00000235372.7 + 8 3960 c.3104C>T c.(3103-3105)cCt>cTt p.P1035L PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1035L|PRDM2_ENST00000343137.4_Missense_Mutation_p.P834L|PRDM2_ENST00000413440.1_Missense_Mutation_p.P834L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1035 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TCTCCCATTCCTCCCGTGGAG 0.572000 20 65 0 0 0.00152264 0 0 CALU 813 broad.mit.edu 37 7 128407644 128407644 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:128407644C>T ENST00000542996.2 + 7 1745 c.802C>T c.(802-804)Ccc>Tcc p.P268S CALU_ENST00000249364.4_Missense_Mutation_p.P260S|CALU_ENST00000449187.2_Missense_Mutation_p.P260S|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Missense_Mutation_p.P109S|CALU_ENST00000535011.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.P268S NM_001199672.1 NP_001186601.1 O43852 CALU_HUMAN calumenin 260 EF-hand 6. platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 CTGGATCCTTCCCTCAGACTA 0.502000 47 15 0 0 0.000781405 0 0 GPR158 57512 broad.mit.edu 37 10 25885576 25885576 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:25885576C>T ENST00000376351.3 + 10 2362 c.2003C>T c.(2002-2004)tCa>tTa p.S668L GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 668 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTTCAGTTTTCACATTCAAGC 0.373000 8 9 0 0 0.000157383 0 0 PAK6 56924 broad.mit.edu 37 15 40558353 40558353 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:40558353G>A ENST00000455577.2 + 5 1427 c.515G>A c.(514-516)gGg>gAg p.G172E PAK6_ENST00000560346.1_Missense_Mutation_p.G172E|PAK6_ENST00000542403.2_Missense_Mutation_p.G172E|PAK6_ENST00000559901.1_3'UTR|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.G172E|PAK6_ENST00000453867.1_Missense_Mutation_p.G172E|PAK6_ENST00000441369.1_Missense_Mutation_p.G172E NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 172 Linker. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CTGCCCAATGGGCTGGCTGCA 0.692000 5 3 0 0 0.000602214 0 0 NPY2R 4887 broad.mit.edu 37 4 156136174 156136174 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:156136174G>A ENST00000329476.3 + 2 1572 c.1083G>A c.(1081-1083)aaG>aaA p.K361K NPY2R_ENST00000506608.1_Silent_p.K361K NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 361 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) AGGCTAAAAAGAACCTGGAGG 0.483000 20 59 0 0 0.00188189 0 0 IGKV6-21 28906 broad.mit.edu 37 2 89459279 89459279 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:89459279C>T ENST00000390256.2 - 0 361 GCAGCATCTTCAGCTTCCAGG 0.483000 40 144 0 0 0.000781405 0 0 APOL5 80831 broad.mit.edu 37 22 36122921 36122921 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36122921C>T ENST00000249044.2 + 3 806 c.806C>T c.(805-807)cCt>cTt p.P269L NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 269 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGACACATCCCTTTCTGGACG 0.542000 98 349 0 0 0.000781405 0 0 CAPN13 92291 broad.mit.edu 37 2 30964829 30964829 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:30964829C>T ENST00000295055.8 - 15 1657 c.1479_splice c.e15-1 p.G494_splice CAPN13_ENST00000534090.2_Splice_Site_p.G494_splice NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 494 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGAAGGGCTTCCCTGGATCAA 0.502000 14 40 0 0 0.00244969 0 0 GMPS 8833 broad.mit.edu 37 3 155652728 155652728 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:155652728C>T ENST00000496455.1 + 14 2035 c.1700C>T c.(1699-1701)cCa>cTa p.P567L GMPS_ENST00000295920.7_Missense_Mutation_p.P468L NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 567 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity 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) TTTGGCCCACCAGTTAAAGAA 0.378000 T MLL AML 20 44 0 0 0.00188189 0 0 PKLR 5313 broad.mit.edu 37 1 155263375 155263375 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:155263375C>T ENST00000392414.3 - 8 1143 c.1030G>A c.(1030-1032)Gag>Aag p.E344K PKLR_ENST00000342741.4_Missense_Mutation_p.E375K NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 375 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) ATCATGCTCTCCAGCATCTGG 0.577000 47 19 0 0 0.000781405 0 0 GCSAM 257144 broad.mit.edu 37 3 111842472 111842472 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:111842472C>T ENST00000308910.4 - 6 551 c.367G>A c.(367-369)Gga>Aga p.G123R GCSAM_ENST00000484193.1_Missense_Mutation_p.G125R|C3orf52_ENST00000467942.2_Intron NM_001190259.1|NM_001190260.1|NM_152785.4 NP_001177188.1|NP_001177189.1|NP_689998.1 germinal center-associated, signaling and motility GTCTCAGTTCCTCCCAAGGAC 0.483000 29 55 0 0 0.00178596 0 0 MIR381HG 378881 broad.mit.edu 37 14 101512826 101512826 + RNA SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:101512826C>T ENST00000553692.1 + 0 28 MIR487B_ENST00000385021.1_RNA CTGTCCTGTTCGTTTTGCTCA 0.507000 16 68 0 0 0.00188189 0 0 ASH1L 55870 broad.mit.edu 37 1 155429669 155429669 + Nonsense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:155429669T>A ENST00000368346.3 - 4 5644 c.5005A>T c.(5005-5007)Aaa>Taa p.K1669* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.K1669* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1669 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGGGAGGGTTTATCAGAGGTT 0.403000 16 91 0 0 0.000566183 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150667295 150667295 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:150667295C>T ENST00000271732.3 - 2 64 c.20G>A c.(19-21)cGg>cAg p.R7Q GOLPH3L_ENST00000540514.1_Missense_Mutation_p.R7Q|GOLPH3L_ENST00000479757.1_5'UTR NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like 7 Golgi cisterna membrane p.R7L(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GCGACGGGCCCGGTGAGTTAA 0.393000 60 107 0 0 0.000781405 0 0 ASIC3 9311 broad.mit.edu 37 7 150749682 150749682 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150749682C>T ENST00000357922.4 + 10 2074 c.1480C>T c.(1480-1482)Cgt>Tgt p.R494C ASIC3_ENST00000297512.8_Missense_Mutation_p.P520L|ASIC3_ENST00000349064.5_Silent_p.A513A NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 493 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CTCCCTGTGCCGTCACCAAGA 0.632000 30 64 0 0 0.00127121 0 0 TCF20 6942 broad.mit.edu 37 22 42605786 42605786 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:42605786G>A ENST00000359486.3 - 1 5662 c.5526C>T c.(5524-5526)atC>atT p.I1842I TCF20_ENST00000335626.4_Silent_p.I1842I|TCF20_ENST00000404876.1_Silent_p.I143I NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GTAGTTCAGGGATTTGTAACT 0.517000 44 508 0 0 0.000781405 0 0 HUWE1 10075 broad.mit.edu 37 X 53622156 53622156 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:53622156G>A ENST00000342160.3 - 29 3828 c.3371C>T c.(3370-3372)cCc>cTc p.P1124L HUWE1_ENST00000218328.8_Missense_Mutation_p.P1124L|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1124L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1124 P -> L (in Ref. 1 and 5). base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CCTGAATCGGGGAGTAGGTGT 0.463000 50 3 0 0 0.000781405 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60029004 60029004 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:60029004G>A ENST00000586569.1 + 7 746 c.708G>A c.(706-708)agG>agA p.R236R TNFRSF11A_ENST00000269485.7_Intron NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 236 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) TTTGCTATAGGAAAAAAGGGA 0.423000 59 269 0 0 0.000781405 0 0 OR52M1 119772 broad.mit.edu 37 11 4566771 4566771 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:4566771C>T ENST00000360213.1 + 1 351 c.351C>T c.(349-351)ttC>ttT p.F117F NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCATCTTCCTTGCCATGG 0.522000 27 23 0 0 0.00106085 0 0 KIF17 57576 broad.mit.edu 37 1 21036224 21036224 + Nonsense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21036224C>T ENST00000247986.2 - 4 888 c.578G>A c.(577-579)tGg>tAg p.W193* KIF17_ENST00000375044.1_Nonsense_Mutation_p.W93*|KIF17_ENST00000400463.3_Nonsense_Mutation_p.W193* Q9P2E2 KIF17_HUMAN kinesin family member 17 193 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) ACGGTTCTTCCAGCCAGTCTC 0.582000 18 71 0 0 0.00121646 0 0 EIF3D 8664 broad.mit.edu 37 22 36922104 36922104 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36922104G>A ENST00000216190.8 - 2 435 c.65C>T c.(64-66)cCc>cTc p.P22L EIF3D_ENST00000541106.1_Missense_Mutation_p.P22L|EIF3D_ENST00000405442.1_Missense_Mutation_p.P22L NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 22 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 AAACTGCTCGGGAACCGCACA 0.512000 13 107 0 0 0.00185496 0 0 FAM21B 55747 broad.mit.edu 37 10 47915888 47915888 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:47915888C>T ENST00000358474.5 + 15 1295 c.1295C>T c.(1294-1296)tCt>tTt p.S432F NM_018232.1 NP_060702.1 Q5SNT6 FA21B_HUMAN family with sequence similarity 21, member B 432 retrograde transport, endosome to Golgi early endosome membrane|WASH complex endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GTTACCTTATCTTCCAGCAAA 0.408000 22 74 0 0 0.00178596 0 0 CACNA1E 777 broad.mit.edu 37 1 181767489 181767489 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181767489G>A ENST00000526775.1 + 46 6440 c.6275G>A c.(6274-6276)aGa>aAa p.R2092K CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2105K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2111K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2135K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2154K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2043K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1718K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2154 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACCCCAAGAAGAAGTCGTCGG 0.592000 18 108 0 0 0.00121646 0 0 PREP 5550 broad.mit.edu 37 6 105736770 105736770 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:105736770C>T ENST00000369110.3 - 11 1510 c.e11-1 NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) GGTAGAAAATCTAGAATATAA 0.338000 18 20 0 0 0.00152264 0 0 SLC24A2 25769 broad.mit.edu 37 9 19520939 19520939 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:19520939C>T ENST00000341998.2 - 9 1750 c.1689G>A c.(1687-1689)atG>atA p.M563I SLC24A2_ENST00000286344.3_Missense_Mutation_p.M546I NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 563 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGGACACAGCCATGTCCCCTA 0.512000 10 2 0 0 0.000673444 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028057 59028057 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:59028057G>A ENST00000594051.1 - 2 1464 c.984C>T c.(982-984)ccC>ccT p.P328P ZBTB45_ENST00000600990.1_Silent_p.P328P|ZBTB45_ENST00000354590.3_Silent_p.P328P Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 328 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AGAGTGCAACGGGCGGCCCTG 0.692000 7 21 0 0 0.000157383 0 0 SARDH 1757 broad.mit.edu 37 9 136599167 136599167 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:136599167C>T ENST00000371872.4 - 2 386 c.129G>A c.(127-129)caG>caA p.Q43Q SARDH_ENST00000298628.5_Silent_p.Q43Q|SARDH_ENST00000439388.1_Silent_p.Q43Q|SARDH_ENST00000422262.2_Intron NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 43 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TCAGGGTCCGCTGATATGGCA 0.687000 11 49 0 0 0.00136819 0 0 MYLK 4638 broad.mit.edu 37 3 123444892 123444892 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:123444892G>A ENST00000360772.3 - 13 1928 c.1550C>T c.(1549-1551)tCc>tTc p.S517F MYLK_ENST00000360304.3_Missense_Mutation_p.S517F|MYLK_ENST00000359169.1_Missense_Mutation_p.S517F|MYLK_ENST00000346322.5_Missense_Mutation_p.S448F|MYLK_ENST00000475616.1_Missense_Mutation_p.S517F Q15746 MYLK_HUMAN myosin light chain kinase 517 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 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) CAGGACACTGGAGAAGGAGGG 0.597000 10 20 0 0 0.000978159 0 0 APBA1 320 broad.mit.edu 37 9 72067079 72067079 + Missense_Mutation SNP C C T rs140108483 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:72067079C>T ENST00000265381.4 - 9 2149 c.1927G>A c.(1927-1929)Gat>Aat p.D643N NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 643 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 ATCAGGTCATCGTTGTACATG 0.517000 53 106 0 0 0.000781405 0 0 TAAR1 134864 broad.mit.edu 37 6 132966382 132966382 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:132966382C>T ENST00000275216.1 - 1 760 c.761G>A c.(760-762)gGg>gAg p.G254E NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 254 plasma membrane 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) CATCACAATCCCCAATGTCTT 0.378000 12 12 0 0 0.00136819 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185386 39185386 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:39185386C>T ENST00000273153.5 - 5 1107 c.930G>A c.(928-930)agG>agA p.R310R CSRNP1_ENST00000514182.1_Silent_p.R310R NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 310 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CCTCCAGCTCCCTAAAGCTCT 0.607000 22 23 0 0 0.00278032 0 0 PDCL 5082 broad.mit.edu 37 9 125582721 125582721 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125582721G>A ENST00000259467.4 - 4 714 c.549C>T c.(547-549)atC>atT p.I183I NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 183 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 TATGAACCATGATGACAATGC 0.463000 36 67 0 0 0.000953801 0 0 OR4M1 441670 broad.mit.edu 37 14 20248664 20248664 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20248664C>T ENST00000315957.4 + 1 264 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CTATGTATTTCCTGTTGGCTA 0.393000 38 132 0 0 0.00128727 0 0 RIF1 55183 broad.mit.edu 37 2 152300067 152300067 + Silent SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:152300067T>A ENST00000243326.4 + 17 2313 c.1830T>A c.(1828-1830)ctT>ctA p.L610L RIF1_ENST00000444746.2_Silent_p.L610L|RIF1_ENST00000453091.2_Silent_p.L610L|RIF1_ENST00000428287.2_Silent_p.L610L|RIF1_ENST00000430328.2_Silent_p.L610L Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 610 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding 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) TGGAATCACTTGTAGGCTGTG 0.308000 79 111 0 0 0.000781405 0 0 KIAA0355 9710 broad.mit.edu 37 19 34833008 34833008 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:34833008C>T ENST00000299505.6 + 10 3042 c.2169C>T c.(2167-2169)tcC>tcT p.S723S NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 723 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) AGCAGCAGTCCCCAAAGCAGC 0.657000 25 91 0 0 0.00047179 0 0 MC4R 4160 broad.mit.edu 37 18 58038893 58038893 + Silent SNP G G A rs148026669 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:58038893G>A ENST00000299766.3 - 1 1108 c.690C>T c.(688-690)ccC>ccT p.P230P NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 230 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding p.P230P(1) endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) CACCAGTGCCGGGGAGGACAG 0.532000 13 54 0 0 0.00136819 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69097034 69097034 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:69097034G>A ENST00000332644.5 - 7 734 c.573C>T c.(571-573)tcC>tcT p.S191S NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 191 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CCCCCTCCAGGGAGCTTTTTC 0.498000 18 26 0 0 0.00121646 0 0 GBP1 2633 broad.mit.edu 37 1 89520397 89520397 + Missense_Mutation SNP C C T rs150057659 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:89520397C>T ENST00000370473.4 - 10 1852 c.1633G>A c.(1633-1635)Gag>Aag p.E545K GBP1_ENST00000484970.1_5'UTR NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 545 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CTCTCTTGCTCTTTCAGCAAC 0.438000 65 474 0 0 0.000781405 0 0 GRIN2B 2904 broad.mit.edu 37 12 14019004 14019004 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:14019004C>T ENST00000279593.3 - 2 348 c.139G>A c.(139-141)Gag>Aag p.E47K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 47 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E47K(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGGCCACCTCGTCGGAAGTG 0.587000 9 53 0 0 0.000274275 0 0 COL6A3 1293 broad.mit.edu 37 2 238253147 238253147 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:238253147C>T ENST00000295550.4 - 36 7966 c.7514G>A c.(7513-7515)gGa>gAa p.G2505E COL6A3_ENST00000353578.4_Missense_Mutation_p.G2299E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1898E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2305E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2304E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2299E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2505 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CATTAGGAATCCGTTCCTCAC 0.507000 67 70 0 0 0.000781405 0 0 RYR2 6262 broad.mit.edu 37 1 237777673 237777673 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:237777673C>T ENST00000366574.2 + 37 5562 c.5245C>T c.(5245-5247)Cca>Tca p.P1749S RYR2_ENST00000542537.1_Missense_Mutation_p.P1733S|RYR2_ENST00000360064.6_Missense_Mutation_p.P1747S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1749 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACACGGCCTTCCAGGGATCGG 0.512000 5 45 0 0 0.000602214 0 0 OR2F1 26211 broad.mit.edu 37 7 143657257 143657257 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143657257A>C ENST00000392899.1 + 1 231 c.194A>C c.(193-195)aAc>aCc p.N65T NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TTTCTCACCAACCTCTCCCTT 0.502000 42 182 0 0 0.000781405 0 0 ABCA4 24 broad.mit.edu 37 1 94578619 94578619 + Missense_Mutation SNP G G A rs150452677 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:94578619G>A ENST00000370225.3 - 2 156 c.70C>T c.(70-72)Cgc>Tgc p.R24C ABCA4_ENST00000535735.1_Missense_Mutation_p.R24C NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 24 R -> H (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACCACAAAGCGAATCTGGAAA 0.428000 77 72 0 0 0.000781405 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634624 70634624 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:70634624C>T ENST00000381269.2 - 2 1269 c.516G>A c.(514-516)ggG>ggA p.G172G SLC8A3_ENST00000356921.2_Silent_p.G172G|SLC8A3_ENST00000534137.1_Silent_p.G172G|SLC8A3_ENST00000357887.3_Silent_p.G172G|SLC8A3_ENST00000528359.1_Silent_p.G172G NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 172 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGGCTGCACTCCCTACAATGG 0.493000 9 51 0 0 0.000673444 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480488 102480488 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:102480488C>T ENST00000324219.4 + 17 2146 c.2072C>T c.(2071-2073)tCa>tTa p.S691L MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S586L|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000347699.4_Intron O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 617 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGGTCTAGATCAGACAGTGAC 0.453000 18 39 0 0 0.000566183 0 0 RDH11 51109 broad.mit.edu 37 14 68156954 68156954 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:68156954G>A ENST00000553306.1 - 1 130 c.131C>T c.(130-132)cCc>cTc p.P44L RDH11_ENST00000553384.1_Silent_p.T200T|RDH11_ENST00000428130.2_Intron|RDH11_ENST00000381346.4_Silent_p.T213T|RP11-1012A1.4_ENST00000554493.1_5'UTR CCAGTTCCTGGGTGAAGAGGA 0.512000 18 56 0 0 0.00278032 0 0 GCA 25801 broad.mit.edu 37 2 163204218 163204218 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163204218C>T ENST00000437150.2 + 2 319 c.158C>T c.(157-159)tCc>tTc p.S53F GCA_ENST00000233612.4_Missense_Mutation_p.S34F|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.S34F NM_012198.3 NP_036330.1 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 53 EF-hand 1. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 GCTGGTGACTCCGTGTATACT 0.423000 13 38 0 0 0.00244969 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745844 37745844 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:37745844C>T ENST00000539465.1 + 16 4408 c.3815C>T c.(3814-3816)tCa>tTa p.S1272L FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1272L|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1272 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTAGAAACTTCAAACCATTGC 0.488000 25 98 0 0 0.000586117 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389992 150389992 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150389992G>A ENST00000223293.5 + 3 712 c.618G>A c.(616-618)ttG>ttA p.L206L NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 206 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGATCTGTTGATGGAGAAAA 0.438000 14 69 0 0 0.000308642 0 0 SHROOM2 357 broad.mit.edu 37 X 9900626 9900626 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:9900626C>T ENST00000380913.3 + 6 3393 c.3303C>T c.(3301-3303)tcC>tcT p.S1101S SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1101 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCCCTGCGTCCCTGGATGTGT 0.687000 9 20 0 0 0.000274275 0 0 HERC5 51191 broad.mit.edu 37 4 89390312 89390312 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:89390312C>T ENST00000264350.3 + 9 1292 c.1139C>T c.(1138-1140)tCa>tTa p.S380L HERC5_ENST00000508159.1_Missense_Mutation_p.S18L NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 380 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TTACAGAATTCATATGTTAAT 0.373000 14 11 0 0 0.000308642 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39144264 39144264 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:39144264C>T ENST00000297668.6 - 11 1802 c.1729G>A c.(1729-1731)Ggc>Agc p.G577S CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G489S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G577S|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G577S NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 577 EGF-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CCCGTATAGCCTGTGCCTAGA 0.493000 6 5 0 0 0.000673444 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70594480 70594480 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:70594480C>T ENST00000260126.3 - 7 2427 c.1721G>A c.(1720-1722)gGa>gAa p.G574E SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G519E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G574E NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 574 Kazal-like. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTATGTAATTCCATCTGATCC 0.433000 14 48 0 0 0.000566183 0 0 TSPAN19 144448 broad.mit.edu 37 12 85421700 85421700 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:85421700C>T ENST00000532498.2 - 4 321 c.241G>A c.(241-243)Gaa>Aaa p.E81K TSPAN19_ENST00000547403.2_Intron NM_001100917.1 NP_001094387.1 P0C672 TSN19_HUMAN tetraspanin 19 81 integral to membrane ovary(1) 1 CATCTGATTTCGTTGTGAATT 0.294000 4 4 0 0 0.00024832 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236042 33236042 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:33236042C>T ENST00000401073.2 + 6 1332 c.1262C>T c.(1261-1263)tCc>tTc p.S421F KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S373F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S362F NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 362 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CACTCTCAATCCTCCGACACC 0.647000 12 16 0 0 0.00185496 0 0 OR6C2 341416 broad.mit.edu 37 12 55846191 55846191 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55846191C>T ENST00000322678.1 + 1 194 c.194C>T c.(193-195)tCc>tTc p.S65F RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AGAAATTTTTCCTTCTTAGAA 0.398000 29 20 0 0 0.00106085 0 0 GAS2L3 283431 broad.mit.edu 37 12 101005900 101005900 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:101005900C>T ENST00000537247.1 + 6 1068 c.114C>T c.(112-114)ctC>ctT p.L38L GAS2L3_ENST00000266754.5_Silent_p.L142L|GAS2L3_ENST00000547754.1_Silent_p.L142L|GAS2L3_ENST00000539410.1_Silent_p.L142L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 142 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 AAACTTACCTCTTTGAATCTG 0.383000 26 68 0 0 0.00127121 0 0 MYH2 4620 broad.mit.edu 37 17 10439901 10439901 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10439901C>T ENST00000245503.5 - 17 2304 c.1920G>A c.(1918-1920)aaG>aaA p.K640K CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.K640K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.K640K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 640 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TACCACCTTTCTTGGCCCCTC 0.418000 5 9 0 0 0.00198382 0 0 CELSR1 9620 broad.mit.edu 37 22 46835148 46835148 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:46835148C>T ENST00000262738.3 - 3 4343 c.4344G>A c.(4342-4344)ccG>ccA p.P1448P NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1448 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity p.P1448P(1) breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGACTGGGGCGGGAAGCTCC 0.652000 31 132 0 0 0.00058488 0 0 PCNT 5116 broad.mit.edu 37 21 47819662 47819662 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:47819662C>T ENST00000359568.5 + 25 4850 c.4743C>T c.(4741-4743)ctC>ctT p.L1581L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1581 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGGCCCAGCTCCAGGAAGAAG 0.473000 38 112 0 0 0.000814825 0 0 CCDC159 126075 broad.mit.edu 37 19 11464191 11464191 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11464191C>T ENST00000588790.1 + 10 1079 c.632C>T c.(631-633)cCg>cTg p.P211L CCDC159_ENST00000458408.1_Missense_Mutation_p.P211L P0C7I6 CC159_HUMAN coiled-coil domain containing 159 326 endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 5 GAAGAGATACCGCAGGGAGCC 0.567000 5 24 0 0 0.00116845 0 0 TACR3 6870 broad.mit.edu 37 4 104640632 104640632 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:104640632G>A ENST00000304883.2 - 1 341 c.201C>T c.(199-201)ccC>ccT p.P67P NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 67 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AGGGCTGGGAGGGCGCGGGGG 0.672000 22 36 0 0 0.00229938 0 0 ARAP1 116985 broad.mit.edu 37 11 72404832 72404832 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:72404832G>A ENST00000359373.5 - 28 4564 c.3713C>T c.(3712-3714)gCg>gTg p.A1238V ARAP1_ENST00000455638.2_Missense_Mutation_p.A1238V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A993V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A932V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A993V|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.A998V|ARAP1_ENST00000393609.3_Missense_Mutation_p.A1238V Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1238 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CACCTTCTCCGCAAAGTGCAG 0.627000 17 17 0 0 0.00152264 0 0 DENND3 22898 broad.mit.edu 37 8 142161922 142161922 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:142161922G>A ENST00000519811.1 + 7 1130 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K DENND3_ENST00000424248.1_Missense_Mutation_p.E274K|DENND3_ENST00000262585.2_Missense_Mutation_p.E274K A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 274 dDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CGACCACTTCGAAGAAGTCAG 0.552000 33 86 0 0 0.00111076 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555256 44555256 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:44555256T>A ENST00000330682.2 - 1 1193 c.958A>T c.(958-960)Atg>Ttg p.M320L KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 320 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TACACCGGCATCTTAGCGTTC 0.657000 74 1381 0 0 0.00170553 0 0 LILRB2 10288 broad.mit.edu 37 19 54783445 54783445 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54783445C>T ENST00000391748.1 - 5 540 c.413G>A c.(412-414)gGa>gAa p.G138E LILRB2_ENST00000391746.1_Missense_Mutation_p.G138E|LILRB2_ENST00000391749.4_Missense_Mutation_p.G138E|LILRB2_ENST00000434421.1_Missense_Mutation_p.G22E|LILRB2_ENST00000314446.5_Missense_Mutation_p.G138E NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 138 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTCACCCTTCCTCCTGAGGT 0.582000 46 51 0 0 0.000781405 0 0 FRMD5 84978 broad.mit.edu 37 15 44180422 44180422 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:44180422C>T ENST00000417257.1 - 10 1011 c.835G>A c.(835-837)Gcg>Acg p.A279T FRMD5_ENST00000402883.1_Missense_Mutation_p.A279T|FRMD5_ENST00000484674.1_Missense_Mutation_p.A185T NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 279 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TGCTTACACGCTTCAGGAGTT 0.428000 26 10 0 0 0.00127121 0 0 DUSP27 92235 broad.mit.edu 37 1 167095448 167095448 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:167095448C>T ENST00000361200.2 + 6 1246 c.1080C>T c.(1078-1080)ctC>ctT p.L360L DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.L360L|DUSP27_ENST00000271385.5_Silent_p.L360L Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 360 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGCAGGGCCTCCTCTCAGACA 0.652000 4 28 0 0 0.000602214 0 0 SYT15 83849 broad.mit.edu 37 10 46965114 46965114 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46965114C>T ENST00000374323.3 - 5 1577 c.990G>A c.(988-990)tcG>tcA p.S330S SYT15_ENST00000374321.4_Silent_p.S277S|SYT15_ENST00000503753.1_Silent_p.S277S|SYT15_ENST00000374325.3_Silent_p.S277S|RP11-38L15.3_ENST00000506914.1_RNA Q9BQS2 SYT15_HUMAN synaptotagmin XV 277 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CGCCAAACTCCGAGGGGGGCT 0.637000 9 71 0 0 0.000442599 0 0 WIPF2 147179 broad.mit.edu 37 17 38434469 38434469 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38434469C>T ENST00000323571.4 + 8 1555 c.1315C>T c.(1315-1317)Ctc>Ttc p.L439F WIPF2_ENST00000585043.1_Missense_Mutation_p.L439F|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Missense_Mutation_p.L181F|WIPF2_ENST00000394103.3_Missense_Mutation_p.L181F|WIPF2_ENST00000583130.1_Missense_Mutation_p.L439F NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 439 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 GCCACCCATTCTCAGGTGAAG 0.512000 HNSCC(43;0.11) 4 16 0 0 0.00116845 0 0 CCR1 1230 broad.mit.edu 37 3 46245447 46245447 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46245447C>T ENST00000296140.3 - 2 483 c.358G>A c.(358-360)Gag>Aag p.E120K CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 120 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AAAAAGATCTCGCTGTACAAG 0.502000 24 77 0 0 0.000720815 0 0 URB2 9816 broad.mit.edu 37 1 229773366 229773366 + Silent SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:229773366G>T ENST00000258243.2 + 4 3142 c.3006G>T c.(3004-3006)ggG>ggT p.G1002G NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1002 nucleolus 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 AAGTGATAGGGACGTTCTTAG 0.428000 30 40 7.38237e-10 2.71937e-09 0.00106085 1 0 SALL3 27164 broad.mit.edu 37 18 76754347 76754347 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:76754347G>A ENST00000536229.3 + 1 2666 c.1957G>A c.(1957-1959)Gac>Aac p.D653N SALL3_ENST00000575389.2_Missense_Mutation_p.D786N|SALL3_ENST00000537592.2_Missense_Mutation_p.D786N Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCTGGCCTACGACGACAAGAA 0.652000 6 24 0 0 0.000157383 0 0 BZRAP1 9256 broad.mit.edu 37 17 56382928 56382928 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:56382928C>T ENST00000355701.3 - 28 6204 c.5334G>A c.(5332-5334)caG>caA p.Q1778Q BZRAP1_ENST00000268893.6_Silent_p.Q1718Q|BZRAP1_ENST00000343736.4_Silent_p.Q1778Q NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1778 SH3 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGAACTCTCCTGGGGGTTGT 0.602000 17 28 0 0 0.00121646 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139513 101139513 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:101139513G>A ENST00000372782.3 - 7 933 c.886C>T c.(886-888)Cat>Tat p.H296Y ZMAT1_ENST00000540921.1_Missense_Mutation_p.H296Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.H125Y NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 125 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TTCTTTGAATGAGGTAACTGC 0.383000 22 3 0 0 0.00188189 0 0 PRDM9 56979 broad.mit.edu 37 5 23527808 23527808 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:23527808G>A ENST00000296682.3 + 11 2793 c.2611G>A c.(2611-2613)Gat>Aat p.D871N NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 871 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGGCTTTAGCGATAGGTCAAG 0.547000 HNSCC(3;0.000094) 19 46 0 0 0.000958276 0 0 SPEF2 79925 broad.mit.edu 37 5 35641617 35641617 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35641617C>T ENST00000440995.2 + 3 246 c.246C>T c.(244-246)gcC>gcT p.A82A SPEF2_ENST00000356031.3_Silent_p.A82A|SPEF2_ENST00000282469.6_Silent_p.A82A|SPEF2_ENST00000509059.1_Silent_p.A82A Q9C093 SPEF2_HUMAN sperm flagellar 2 82 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAATGTGGCCCATGGCATCA 0.423000 9 24 0 0 0.000274275 0 0 C5AR1 728 broad.mit.edu 37 19 47823499 47823499 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:47823499C>T ENST00000355085.3 + 2 487 c.465C>T c.(463-465)atC>atT p.I155I NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 155 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TGGCCTGGATCGCCTGTGCCG 0.607000 25 115 0 0 0.001512 0 0 TCL1B 9623 broad.mit.edu 37 14 96152929 96152929 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96152929C>T ENST00000340722.7 + 1 176 c.125C>T c.(124-126)tCg>tTg p.S42L RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 42 cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TTCAATCCCTCGCGTAGGGAA 0.672000 15 36 0 0 0.00244969 0 0 DDX24 57062 broad.mit.edu 37 14 94545680 94545680 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:94545680G>A ENST00000330836.5 - 2 540 c.409C>T c.(409-411)Ccg>Tcg p.P137S DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.P94S NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 137 RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CCAGCCTCCGGATCATCACAA 0.453000 31 103 0 0 0.00178596 0 0 CAMK1D 57118 broad.mit.edu 37 10 12870807 12870807 + Missense_Mutation SNP C C T rs148446769 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:12870807C>T ENST00000378847.3 + 11 1416 c.1079C>T c.(1078-1080)tCg>tTg p.S360L NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 360 Ser-rich. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.S360L(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) ATTTCTTCTTCGTCGGGGGTC 0.592000 83 112 0 0 0.000781405 0 0 BDKRB2 624 broad.mit.edu 37 14 96707829 96707829 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96707829G>A ENST00000542454.2 + 3 4171 c.1083G>A c.(1081-1083)ggG>ggA p.G361G RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.G388G|BDKRB2_ENST00000539359.1_Silent_p.G361G|BDKRB2_ENST00000554311.1_Silent_p.G388G P30411 BKRB2_HUMAN bradykinin receptor B2 388 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) ACTGGGCAGGGAGCAGACAGT 0.552000 14 35 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179566258 179566258 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179566258C>T ENST00000589042.1 - 110 30819 c.30595G>A c.(30595-30597)Gaa>Aaa p.E10199K TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9882K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8955K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9882 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTTACCTTCTGGTGGCACT 0.458000 44 54 0 0 0.000781405 0 0 C1orf168 199920 broad.mit.edu 37 1 57257903 57257903 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57257903G>A ENST00000343433.6 - 2 663 c.583C>T c.(583-585)Cct>Tct p.P195S C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 195 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTCTGGGAAGGAAGAGTCTGG 0.468000 23 82 0 0 0.00047179 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871325 51871325 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:51871325C>T ENST00000371497.5 + 2 2215 c.1328C>T c.(1327-1329)cCc>cTc p.P443L TSHZ2_ENST00000329613.6_Missense_Mutation_p.P440L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P440L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 443 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCTCTGGCTCCCAAGCCATCC 0.478000 41 140 0 0 0.00285205 0 0 FUT3 2525 broad.mit.edu 37 19 5844594 5844594 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:5844594G>A ENST00000303225.6 - 3 891 c.257C>T c.(256-258)cCc>cTc p.P86L FUT3_ENST00000589918.1_Missense_Mutation_p.P86L|FUT3_ENST00000458379.2_Missense_Mutation_p.P86L|FUT3_ENST00000589620.1_Missense_Mutation_p.P86L NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 86 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GGCTGTGCCGGGCACCATCTC 0.607000 29 107 0 0 0.00178596 0 0 TTC31 64427 broad.mit.edu 37 2 74718670 74718670 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:74718670C>T ENST00000410003.1 + 8 756 c.747C>T c.(745-747)ccC>ccT p.P249P TTC31_ENST00000233623.5_Silent_p.P249P|TTC31_ENST00000442235.2_Silent_p.P105P|TTC31_ENST00000463189.1_3'UTR Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 249 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GGGATTGGCCCCTCAGTGCCC 0.567000 135 141 0 0 0.000781405 0 0 OR2G6 391211 broad.mit.edu 37 1 248685470 248685470 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248685470G>A ENST00000343414.4 + 1 555 c.523G>A c.(523-525)Gat>Aat p.D175N NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCGCACACTGGATCATATTTT 0.537000 18 52 0 0 0.00074312 0 0 ACAN 176 broad.mit.edu 37 15 89402028 89402028 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89402028G>A ENST00000439576.2 + 12 6586 c.6212G>A c.(6211-6213)gGa>gAa p.G2071E ACAN_ENST00000561243.1_Missense_Mutation_p.G2071E|ACAN_ENST00000559004.1_Missense_Mutation_p.G2071E|ACAN_ENST00000352105.7_Missense_Mutation_p.G2071E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2071 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGTCCAGTGGAAAAGTCTCC 0.522000 9 14 0 0 0.000442599 0 0 PLA2G3 50487 broad.mit.edu 37 22 31531921 31531921 + Splice_Site SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31531921A>C ENST00000215885.3 - 7 1570 c.1316_splice c.e7-1 p.C440_splice NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 440 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TCTCTGGAACAGCTGTAAGGA 0.602000 9 75 0 0 0.000442599 0 0 CD1D 912 broad.mit.edu 37 1 158152903 158152903 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158152903G>A ENST00000368171.3 + 5 1342 c.843G>A c.(841-843)gtG>gtA p.V281V NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 281 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCTGTCGGGTGAAGCACAGCA 0.602000 22 74 0 0 0.000720815 0 0 AMBN 258 broad.mit.edu 37 4 71467169 71467169 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:71467169T>G ENST00000322937.6 + 6 432 c.329T>G c.(328-330)cTc>cGc p.L110R AMBN_ENST00000449493.2_Intron NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 110 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) CCCCCACCTCTCCCATCACAG 0.483000 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 113 0 0 0.000781405 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111792 64111792 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:64111792C>T ENST00000356786.5 + 14 1823 c.1779C>T c.(1777-1779)ggC>ggT p.G593G CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 593 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGAAGGCTGGCCGTAGATCCT 0.642000 8 10 0 0 0.000442599 0 0 TBC1D9 23158 broad.mit.edu 37 4 141600298 141600298 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:141600298G>A ENST00000442267.2 - 5 723 c.649C>T c.(649-651)Ctg>Ttg p.L217L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 217 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ACATCAGGCAGAAGCAGGGTG 0.493000 24 54 0 0 0.00106085 0 0 AFF2 2334 broad.mit.edu 37 X 148037775 148037775 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:148037775C>G ENST00000370460.2 + 11 2679 c.2200C>G c.(2200-2202)Cct>Gct p.P734A AFF2_ENST00000342251.3_Missense_Mutation_p.P701A|AFF2_ENST00000286437.5_Missense_Mutation_p.P375A|AFF2_ENST00000370457.5_Missense_Mutation_p.P701A NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 734 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CAAAGTCCTGCCTCCGTGCAT 0.468000 46 48 0 0 0.000781405 0 0 EDNRA 1909 broad.mit.edu 37 4 148461043 148461043 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:148461043C>T ENST00000324300.5 + 6 1490 c.975C>T c.(973-975)agC>agT p.S325S EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Silent_p.S216S|EDNRA_ENST00000358556.4_Silent_p.S216S|EDNRA_ENST00000511804.1_Silent_p.S100S|EDNRA_ENST00000503721.1_3'UTR NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 325 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TTCATTTAAGCCGTATATTGA 0.383000 43 82 0 0 0.00222228 0 0 PDE4B 5142 broad.mit.edu 37 1 66833690 66833690 + Missense_Mutation SNP C C T rs151031090 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:66833690C>T ENST00000423207.2 + 13 2044 c.1559C>T c.(1558-1560)aCg>aTg p.T520M PDE4B_ENST00000329654.4_Missense_Mutation_p.T535M|PDE4B_ENST00000480109.2_Missense_Mutation_p.T302M|PDE4B_ENST00000371045.5_Missense_Mutation_p.T363M|PDE4B_ENST00000371049.3_Missense_Mutation_p.T535M NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 535 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ATGGTAGAAACGAAGAAAGTT 0.368000 9 30 0 0 0.000274275 0 0 ITIH6 347365 broad.mit.edu 37 X 54784275 54784275 + Silent SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:54784275T>G ENST00000218436.6 - 8 2261 c.2232A>C c.(2230-2232)ctA>ctC p.L744L NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 744 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TCTGGTGTGATAGAGAGCCGG 0.517000 85 5 0 0 0.000781405 0 0 ATP1A2 477 broad.mit.edu 37 1 160105660 160105660 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160105660C>T ENST00000361216.3 + 17 2405 c.2316C>T c.(2314-2316)tcC>tcT p.S772S ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.S772S NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 772 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGAAGAAATCCATCGCCTACA 0.567000 24 100 0 0 0.00047179 0 0 PRODH 5625 broad.mit.edu 37 22 18905843 18905843 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:18905843G>A ENST00000357068.6 - 11 1678 c.1413C>T c.(1411-1413)aaC>aaT p.N471N PRODH_ENST00000334029.2_Silent_p.N363N|PRODH_ENST00000420436.1_Silent_p.N363N NM_016335.4 NP_057419.4 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 471 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) GGTACATGGCGTTGGTGGCCT 0.647000 56 134 0 0 0.000781405 0 0 SRD5A1 6715 broad.mit.edu 37 5 6633927 6633927 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:6633927C>T ENST00000274192.5 + 1 472 c.238C>T c.(238-240)Cgc>Tgc p.R80C SRD5A1_ENST00000537411.1_Silent_p.S88S|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Silent_p.S88S NM_001047.2 NP_001038.1 P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 80 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) CCCGCGTCTCCGCAGCGCGCC 0.741000 7 37 0 0 0.000274275 0 0 GABRA3 2556 broad.mit.edu 37 X 151532952 151532952 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:151532952C>T ENST00000370314.4 - 2 329 c.91G>A c.(91-93)Gaa>Aaa p.E31K GABRA3_ENST00000370311.1_Missense_Mutation_p.E31K|GABRA3_ENST00000535043.1_Missense_Mutation_p.E31K NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 31 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CGTCTTGATTCCCCTTGACCA 0.448000 75 5 0 0 0.000781405 0 0 NKD1 85407 broad.mit.edu 37 16 50667569 50667569 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:50667569G>A ENST00000268459.3 + 10 1514 c.1290G>A c.(1288-1290)gaG>gaA p.E430E NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 430 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) TGGGGCGGGAGCACCTGCGGG 0.667000 5 6 0 0 0.00116845 0 0 KRT32 3882 broad.mit.edu 37 17 39623239 39623239 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39623239C>A ENST00000225899.3 - 1 442 c.339G>T c.(337-339)agG>agT p.R113S NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 113 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) GCTGCCGCACCCTCGTCAGGT 0.597000 44 80 3.39706e-21 1.25707e-20 0.000781405 1 0 DENND2C 163259 broad.mit.edu 37 1 115130354 115130354 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:115130354C>T ENST00000393274.1 - 19 3276 c.2651G>A c.(2650-2652)cGg>cAg p.R884Q DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R827Q|DENND2C_ENST00000393277.1_Missense_Mutation_p.R772Q NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 884 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCACTTTTCCGAAGCTCTCG 0.398000 14 91 0 0 0.000422831 0 0 TNRC6B 23112 broad.mit.edu 37 22 40696535 40696535 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:40696535C>A ENST00000454349.2 + 13 3996 c.3785C>A c.(3784-3786)tCt>tAt p.S1262Y TNRC6B_ENST00000335727.8_Missense_Mutation_p.S1152Y|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S458Y|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S458Y NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1262 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CCCCAGTTATCTCCTCAACAA 0.433000 30 42 6.04164e-23 2.23647e-22 0.00209593 1 0 SLC24A3 57419 broad.mit.edu 37 20 19566125 19566125 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:19566125C>T ENST00000328041.6 + 6 746 c.549C>T c.(547-549)atC>atT p.I183I NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 183 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TTGGCACCATCGTGGGCTCAG 0.542000 54 149 0 0 0.000781405 0 0 DSTYK 25778 broad.mit.edu 37 1 205116758 205116758 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:205116758G>A ENST00000367162.3 - 13 2748 c.2718C>T c.(2716-2718)ctC>ctT p.L906L DSTYK_ENST00000367160.4_Silent_p.L565L|DSTYK_ENST00000367161.3_Silent_p.L861L NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 906 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TGATGCCCTGGAGCATGGGCT 0.507000 54 168 0 0 0.000781405 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68704004 68704004 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:68704004G>A ENST00000283916.6 - 5 459 c.361C>T c.(361-363)Caa>Taa p.Q121* TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Nonsense_Mutation_p.Q4*|RP11-453E17.1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 121 SEA. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CTAGTGAATTGAAATTTCATG 0.333000 7 31 0 0 0.000157383 0 0 MROH2B 133558 broad.mit.edu 37 5 41004490 41004490 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41004490G>A ENST00000399564.4 - 37 4602 c.4152C>T c.(4150-4152)taC>taT p.Y1384Y MROH2B_ENST00000506092.2_Silent_p.Y939Y NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTTCCTTGAAGTAGAAGCTCA 0.468000 74 54 0 0 0.000781405 0 0 RXRG 6258 broad.mit.edu 37 1 165380213 165380213 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:165380213G>A ENST00000359842.5 - 5 1058 c.756C>T c.(754-756)tcC>tcT p.S252S RXRG_ENST00000470566.1_5'UTR NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 252 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TGTCACCATAGGATTCTGTCT 0.463000 14 63 0 0 0.000308642 0 0 GABRA6 2559 broad.mit.edu 37 5 161119131 161119131 + Silent SNP G G A rs144044129 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:161119131G>A ENST00000523217.1 + 8 1223 c.981G>A c.(979-981)agG>agA p.R327R GABRA6_ENST00000274545.5_Silent_p.R337R NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 337 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.R337R(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGCCAAAAGGAAGGCACAGT 0.418000 TCGA Ovarian(5;0.080) 24 48 0 0 0.000586117 0 0 CYP26C1 340665 broad.mit.edu 37 10 94822678 94822678 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:94822678G>A ENST00000285949.5 + 3 631 c.631G>A c.(631-633)Gcc>Acc p.A211T NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 211 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CGCCACGCTGGCCCGGACCTT 0.672000 13 22 0 0 0.00074312 0 0 OR13C8 138802 broad.mit.edu 37 9 107331637 107331637 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:107331637C>T ENST00000335040.1 + 1 189 c.189C>T c.(187-189)ctC>ctT p.L63L NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ATTTCTTCCTCTGTAATCTTT 0.428000 59 197 0 0 0.000781405 0 0 SCN11A 11280 broad.mit.edu 37 3 38968341 38968341 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38968341G>A ENST00000302328.3 - 4 768 c.570C>T c.(568-570)ttC>ttT p.F190F SCN11A_ENST00000444237.2_Silent_p.F190F|SCN11A_ENST00000450244.1_Silent_p.F190F|SCN11A_ENST00000456224.3_Silent_p.F190F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 190 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity 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) GATCTCGAAGGAAAGAAAACT 0.368000 35 116 0 0 0.00283554 0 0 RAB40C 57799 broad.mit.edu 37 16 677503 677503 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:677503C>T ENST00000535977.1 + 7 949 c.727C>T c.(727-729)Ctg>Ttg p.L243L RAB40C_ENST00000538492.1_Silent_p.L243L|RAB40C_ENST00000248139.3_Silent_p.L243L|RAB40C_ENST00000539661.1_Silent_p.L243L NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 243 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) TTCCTACTCCCTGGCCAGCGG 0.657000 34 68 0 0 0.000953801 0 0 CCR6 1235 broad.mit.edu 37 6 167550831 167550831 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:167550831C>T ENST00000341935.5 + 3 1665 c.1113C>T c.(1111-1113)tcC>tcT p.S371S CCR6_ENST00000349984.4_Silent_p.S371S|CCR6_ENST00000400926.2_Silent_p.S371S NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 371 SSFTM -> VVLHYVIES (in Ref. 4; AAB06949). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) ATGCGTCGTCCTTCACTATGT 0.458000 14 20 0 0 0.000422831 0 0 SLC3A1 6519 broad.mit.edu 37 2 44528277 44528277 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:44528277G>A ENST00000410056.3 + 6 1147 c.1147G>A c.(1147-1149)Gca>Aca p.A383T SLC3A1_ENST00000409229.3_Intron|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409741.1_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409387.1_Intron Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 385 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 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) GTTGACCACGGCATATGCTCT 0.517000 5 40 0 0 0.000602214 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130869 38130869 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38130869G>A ENST00000406386.3 + 9 4781 c.4526G>A c.(4525-4527)aGa>aAa p.R1509K RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1509 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTAGGAAAGAGAAGCCCACTC 0.647000 14 68 0 0 0.00185496 0 0 CSMD3 114788 broad.mit.edu 37 8 114185968 114185968 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:114185968G>A ENST00000297405.5 - 4 936 c.692C>T c.(691-693)cCt>cTt p.P231L CSMD3_ENST00000352409.3_Missense_Mutation_p.P231L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P191L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P231L|CSMD3_ENST00000519485.1_5'UTR NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 231 Sushi 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATAGGAACAGGAAAATCCCA 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 52 0 0 0.000978159 0 0 CTNND2 1501 broad.mit.edu 37 5 10981885 10981885 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:10981885C>T ENST00000304623.8 - 21 3606 c.3417_splice c.e21+1 p.Q1139_splice CTNND2_ENST00000503622.1_Splice_Site_p.Q802_splice|CTNND2_ENST00000359640.2_Splice_Site_p.Q1081_splice|CTNND2_ENST00000511377.1_Splice_Site_p.Q1048_splice|CTNND2_ENST00000458100.2_Splice_Site_p.Q706_splice|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1139 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.Q1139H(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTTACTTTACCTGGTTGTGTT 0.338000 35 81 0 0 0.00111076 0 0 TMEM176B 28959 broad.mit.edu 37 7 150493629 150493629 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150493629C>T ENST00000447204.2 - 2 401 c.29G>A c.(28-30)gGa>gAa p.G10E TMEM176B_ENST00000326442.5_Missense_Mutation_p.G10E|TMEM176B_ENST00000492607.1_Missense_Mutation_p.G10E|TMEM176B_ENST00000434545.1_Missense_Mutation_p.G10E|TMEM176B_ENST00000450753.2_Missense_Mutation_p.G10E|TMEM176B_ENST00000429904.2_Missense_Mutation_p.G10E NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 10 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATAGCAACTCCATTCACAAT 0.537000 54 38 0 0 0.000781405 0 0 ZNF222 7673 broad.mit.edu 37 19 44536305 44536305 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:44536305C>T ENST00000187879.8 + 4 640 c.478C>T c.(478-480)Ctt>Ttt p.L160F ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.L200F NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) CATCTCAGCCCTTCATATTCA 0.423000 88 77 0 0 0.000781405 0 0 TPO 7173 broad.mit.edu 37 2 1500483 1500483 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:1500483G>A ENST00000345913.4 + 13 2423 c.2332G>A c.(2332-2334)Gag>Aag p.E778K TPO_ENST00000349624.3_Missense_Mutation_p.E605K|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.E778K|TPO_ENST00000346956.3_Missense_Mutation_p.E778K|TPO_ENST00000382201.3_Missense_Mutation_p.E721K|TPO_ENST00000329066.4_Missense_Mutation_p.E778K|TPO_ENST00000382198.1_Missense_Mutation_p.E605K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 778 Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCAAGGCCGGGAGCAGCTCAC 0.552000 80 102 0 0 0.000781405 0 0 ACBD3 64746 broad.mit.edu 37 1 226349293 226349293 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:226349293G>A ENST00000366812.5 - 4 721 c.667C>T c.(667-669)Cga>Tga p.R223* ACBD3_ENST00000464927.1_5'UTR NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 223 Arg-rich.|Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) tcctcccgtcgaagcctttcc 0.453000 11 66 0 0 0.000978159 0 0 KIAA1551 55196 broad.mit.edu 37 12 32134418 32134418 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:32134418C>T ENST00000312561.4 + 4 943 c.529C>T c.(529-531)Cct>Tct p.P177S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TACACGACTTCCTGTAGCTTA 0.423000 21 53 0 0 0.00047179 0 0 CFAP54 144535 broad.mit.edu 37 12 97137855 97137855 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:97137855C>T ENST00000524981.3 + 22 2968 c.2968C>T c.(2968-2970)Cca>Tca p.P990S Q6ZTY8 CL063_HUMAN 964 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 ATATGCAAATCCATTACAGCC 0.299000 12 18 0 0 0.000978159 0 0 FLRT1 23769 broad.mit.edu 37 11 63885213 63885213 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:63885213T>C ENST00000246841.3 + 2 2517 c.1474T>C c.(1474-1476)Tac>Cac p.Y492H MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 464 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CAAGACAGAGTACCTGCTGAC 0.622000 11 11 0 0 0.000978159 0 0 SLC38A7 55238 broad.mit.edu 37 16 58701363 58701363 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:58701363G>A ENST00000570101.1 - 11 2198 c.1315C>T c.(1315-1317)Ctc>Ttc p.L439F SLC38A7_ENST00000564010.1_Missense_Mutation_p.L350F|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564100.1_Silent_p.S304S|SLC38A7_ENST00000219320.4_Missense_Mutation_p.L439F Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 439 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GTGACCAAGAGGACTCCGTAG 0.537000 11 39 0 0 0.00136819 0 0 LRRC31 79782 broad.mit.edu 37 3 169578451 169578451 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:169578451C>T ENST00000316428.5 - 3 442 c.385G>A c.(385-387)Gga>Aga p.G129R LRRC31_ENST00000523069.1_Missense_Mutation_p.G129R|LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 129 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) AGGAGGGTTCCACCTACAAAA 0.448000 51 40 0 0 0.000781405 0 0 FAM160B2 64760 broad.mit.edu 37 8 21958475 21958475 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:21958475C>T ENST00000289921.7 + 12 1654 c.1608C>T c.(1606-1608)atC>atT p.I536I NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 536 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 TGACCGAGATCGTCAACAGGT 0.478000 4 16 0 0 0.00024832 0 0 ISG15 9636 broad.mit.edu 37 1 949739 949739 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:949739G>A ENST00000379389.4 + 2 530 c.379G>A c.(379-381)Gag>Aag p.E127K NM_005101.3 NP_005092.1 P05161 ISG15_HUMAN ISG15 ubiquitin-like modifier 127 Ubiquitin-like 2. cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway cytosol|extracellular space protein binding endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTGACCTTCGAGGGGAAGCC 0.662000 26 93 0 0 0.000720815 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180782 142180782 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142180782G>A ENST00000390368.2 - 0 142 GAATTTTGGGGTCTGAGTGAC 0.527000 19 121 0 0 0.000878237 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627414 43627414 + Missense_Mutation SNP C C G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:43627414C>G ENST00000332857.6 - 4 1301 c.1273G>C c.(1273-1275)Gag>Cag p.E425Q NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 ACCAGGGACTCGCTGTGCAGA 0.498000 161 104 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179597365 179597365 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179597365C>T ENST00000589042.1 - 56 16647 c.16423G>A c.(16423-16425)Gga>Aga p.G5475R TTN_ENST00000591111.1_Missense_Mutation_p.G5158R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4231R|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5158 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAGTAGATCCTTGGAAAGTG 0.463000 4 15 0 0 0.00024832 0 0 COL19A1 1310 broad.mit.edu 37 6 70890205 70890205 + Splice_Site SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:70890205G>A ENST00000322773.4 + 43 2771 c.2667_splice c.e43-1 p.G890_splice COL19A1_ENST00000393344.1_Splice_Site_p.G512_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 890 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging 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 CCTTGCCAGGGAAAACCTGGT 0.488000 19 23 0 0 0.00121646 0 0 SLC17A2 10246 broad.mit.edu 37 6 25916919 25916919 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25916919G>A ENST00000377850.3 - 8 1448 c.924C>T c.(922-924)atC>atT p.I308I SLC17A2_ENST00000360488.3_Silent_p.I308I|SLC17A2_ENST00000265425.3_Silent_p.I308I O00624 NPT3_HUMAN solute carrier family 17, member 2 308 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TCACATCTCTGATGTTAACAT 0.378000 21 68 0 0 0.00047179 0 0 ZNF486 90649 broad.mit.edu 37 19 20307999 20307999 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:20307999G>A ENST00000335117.8 + 4 537 c.480G>A c.(478-480)gtG>gtA p.V160V CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 GTAAATATGTGAAAGTCTTTC 0.303000 18 85 0 0 0.00152264 0 0 IGSF3 3321 broad.mit.edu 37 1 117156446 117156446 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:117156446G>A ENST00000369486.3 - 4 1538 c.773C>T c.(772-774)tCg>tTg p.S258L IGSF3_ENST00000318837.6_Missense_Mutation_p.S258L|IGSF3_ENST00000369483.1_Missense_Mutation_p.S258L NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 258 Ig-like C2-type 2. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCATACCACGACCCATCCGG 0.602000 8 44 0 0 0.000442599 0 0 FRAS1 80144 broad.mit.edu 37 4 79429917 79429917 + Silent SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:79429917A>G ENST00000264895.6 + 63 9977 c.9537A>G c.(9535-9537)gaA>gaG p.E3179E NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3174 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACCATGTGGAAGAAGTTACCA 0.522000 8 25 0 0 0.000157383 0 0 C3 718 broad.mit.edu 37 19 6707818 6707818 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:6707818C>T ENST00000245907.6 - 15 2060 c.1968G>A c.(1966-1968)caG>caA p.Q656Q NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 656 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CACCTGCCCTCTGGGCGGTCT 0.672000 22 68 0 0 0.00188189 0 0 PKHD1 5314 broad.mit.edu 37 6 51923238 51923238 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51923238C>T ENST00000371117.3 - 16 1670 c.1395G>A c.(1393-1395)agG>agA p.R465R PKHD1_ENST00000340994.4_Silent_p.R465R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 465 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 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) TCCTCATCCCCCTGCTTGGGG 0.562000 30 30 0 0 0.00283554 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152882 151152882 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:151152882G>A ENST00000367328.1 + 16 2947 c.2635G>A c.(2635-2637)Gag>Aag p.E879K PLEKHG1_ENST00000358517.2_Missense_Mutation_p.E879K NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 879 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAGCACCCCTGAGCTGAGCCG 0.627000 15 23 0 0 0.00244969 0 0 MYOG 4656 broad.mit.edu 37 1 203054895 203054895 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:203054895G>A ENST00000241651.4 - 1 269 c.195C>T c.(193-195)tgC>tgT p.C65C NM_002479.4 NP_002470.2 P15173 MYOG_HUMAN myogenin (myogenic factor 4) 65 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 CCCACGGCAGGCACTGGCCTG 0.682000 25 107 0 0 0.00127121 0 0 SIN3B 23309 broad.mit.edu 37 19 16976290 16976290 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:16976290C>T ENST00000379803.1 + 12 1563 c.1549C>T c.(1549-1551)Cgg>Tgg p.R517W SIN3B_ENST00000595541.1_Missense_Mutation_p.R75W|SIN3B_ENST00000248054.5_Missense_Mutation_p.R485W NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 517 Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GAAGCTATCTCGGATGGCGCC 0.582000 38 45 0 0 0.00128727 0 0 LRP1B 53353 broad.mit.edu 37 2 141032145 141032145 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:141032145C>T ENST00000389484.3 - 85 13961 c.12990G>A c.(12988-12990)gtG>gtA p.V4330V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4330 EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTCAGAATTCACACAATAGT 0.388000 TSP Lung(27;0.18) 6 13 0 0 0.00198382 0 0 MTRR 4552 broad.mit.edu 37 5 7897231 7897231 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:7897231C>T ENST00000264668.2 + 14 1934 c.1904C>T c.(1903-1905)tCc>tTc p.S635F MTRR_ENST00000440940.2_Missense_Mutation_p.S608F NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 635 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CTAAAGGTTTCCTTCTCAAGA 0.438000 28 18 0 0 0.00106085 0 0 CA3 761 broad.mit.edu 37 8 86351982 86351982 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:86351982G>A ENST00000285381.2 + 2 159 c.76G>A c.(76-78)Gaa>Aaa p.E26K NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 26 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGCCAAGGGGGAAAACCAGTC 0.493000 19 28 0 0 0.00188189 0 0 TRIM58 25893 broad.mit.edu 37 1 248039361 248039361 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248039361G>A ENST00000366481.3 + 6 1079 c.1031G>A c.(1030-1032)gGg>gAg p.G344E OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 344 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTCTCATCAGGGAGGCATTAC 0.562000 14 57 0 0 0.00185496 0 0 PJA2 9867 broad.mit.edu 37 5 108673046 108673046 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:108673046G>A ENST00000361189.2 - 10 2252 c.2013C>T c.(2011-2013)tgC>tgT p.C671C PJA2_ENST00000361557.3_Silent_p.C671C NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 671 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GGCACACAGGGCATGTTCCCG 0.448000 9 36 0 0 0.000274275 0 0 KRT32 3882 broad.mit.edu 37 17 39623483 39623483 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39623483C>T ENST00000225899.3 - 1 198 c.95G>A c.(94-96)cGg>cAg p.R32Q NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 32 Head. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CAGCTCAGGCCGGCAGTTCAC 0.632000 31 50 0 0 0.00209593 0 0 RYR1 6261 broad.mit.edu 37 19 38960045 38960045 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:38960045G>A ENST00000355481.4 + 27 3788 c.3657G>A c.(3655-3657)caG>caA p.Q1219Q RYR1_ENST00000359596.3_Silent_p.Q1219Q|RYR1_ENST00000360985.3_Silent_p.Q1219Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1219 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTGGCCTCCAGGAAGGCTTCG 0.607000 29 142 0 0 0.0024448 0 0 MYOM1 8736 broad.mit.edu 37 18 3102484 3102484 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:3102484C>T ENST00000400569.3 - 23 3896 c.3563G>A c.(3562-3564)aGc>aAc p.S1188N MYOM1_ENST00000261606.7_Missense_Mutation_p.S1092N|MYOM1_ENST00000356443.4_Missense_Mutation_p.S1188N P52179 MYOM1_HUMAN myomesin 1 1188 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GTTGCCCTTGCTTTCGACTTC 0.428000 53 227 0 0 0.000781405 0 0 F2RL2 2151 broad.mit.edu 37 5 75914462 75914462 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:75914462C>T ENST00000296641.4 - 2 273 c.70G>A c.(70-72)Gaa>Aaa p.E24K IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E2K NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 24 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) GTATCATTTTCCATGCCTGTA 0.338000 80 55 0 0 0.000781405 0 0 HYDIN 54768 broad.mit.edu 37 16 70841794 70841794 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:70841794C>T ENST00000393567.2 - 86 15205 c.15055G>A c.(15055-15057)Gga>Aga p.G5019R NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5019 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGAGCCATTCCAAAGAGGGGG 0.537000 22 58 0 0 0.000586117 0 0 RPE65 6121 broad.mit.edu 37 1 68896760 68896760 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:68896760C>T ENST00000262340.5 - 13 1491 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 480 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity p.E480Q(1) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 TCATCTTCTTCCAAGGCATCT 0.398000 21 22 0 0 0.00188189 0 0 PTPRB 5787 broad.mit.edu 37 12 70988398 70988398 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:70988398C>T ENST00000334414.6 - 6 1409 c.1365G>A c.(1363-1365)atG>atA p.M455I PTPRB_ENST00000538708.1_Missense_Mutation_p.M237I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.M237I|PTPRB_ENST00000261266.5_Missense_Mutation_p.M237I|PTPRB_ENST00000551525.1_Missense_Mutation_p.M454I|PTPRB_ENST00000550857.1_Missense_Mutation_p.M237I|PTPRB_ENST00000550358.1_Missense_Mutation_p.M455I NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 237 Fibronectin type-III 5. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCCTTTATCCATTAGCATCA 0.473000 17 41 0 0 0.000566183 0 0 TAPBPL 55080 broad.mit.edu 37 12 6562689 6562689 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6562689C>T ENST00000266556.7 + 3 537 c.372C>T c.(370-372)atC>atT p.I124I TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Silent_p.I47I NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 124 antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 CCTGTGAGATCTCCCGCTACT 0.577000 31 14 0 0 0.00209593 0 0 HGSNAT 138050 broad.mit.edu 37 8 43048908 43048908 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:43048908C>T ENST00000458501.2 + 14 1470 c.1470C>T c.(1468-1470)taC>taT p.Y490Y HGSNAT_ENST00000521576.1_Silent_p.Y179Y|HGSNAT_ENST00000379644.4_Silent_p.Y462Y|HGSNAT_ENST00000297798.7_Silent_p.Y194Y Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 490 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AGGTACTTTACCACACCGAGG 0.463000 17 29 0 0 0.000958276 0 0 KCNH5 27133 broad.mit.edu 37 14 63447746 63447746 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:63447746G>A ENST00000322893.7 - 6 1054 c.786C>T c.(784-786)atC>atT p.I262I KCNH5_ENST00000420622.2_Silent_p.I262I|KCNH5_ENST00000394968.1_Silent_p.I204I|KCNH5_ENST00000394964.2_Silent_p.I204I NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 262 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity 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) AATTTAAAACGATGTCAACCA 0.423000 15 50 0 0 0.000308642 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8431165 8431165 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8431165A>T ENST00000301455.2 + 3 680 c.509A>T c.(508-510)cAg>cTg p.Q170L ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q3L|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.Q170L NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 170 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 GAGATGGCCCAGCCAGTTGAC 0.642000 30 26 0 0 0.00178596 0 0 GBP1 2633 broad.mit.edu 37 1 89520398 89520398 + Missense_Mutation SNP T T G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:89520398T>G ENST00000370473.4 - 10 1851 c.1632A>C c.(1630-1632)aaA>aaC p.K544N GBP1_ENST00000484970.1_5'UTR NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 544 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TCTCTTGCTCTTTCAGCAACT 0.443000 66 489 0 0 0.000781405 0 0 SLC5A4 6527 broad.mit.edu 37 22 32631072 32631072 + Missense_Mutation SNP C C T rs140177779 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:32631072C>T ENST00000266086.4 - 8 684 c.673G>A c.(673-675)Gaa>Aaa p.E225K RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 225 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CCTCCAACTTCGTTAAATGCT 0.428000 84 43 0 0 0.000781405 0 0 NRXN3 9369 broad.mit.edu 37 14 79181202 79181202 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:79181202C>T ENST00000554719.1 + 5 1136 c.645C>T c.(643-645)aaC>aaT p.N215N NRXN3_ENST00000335750.5_Silent_p.N215N NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 221 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGCCGGAGAACCGTGCTGGCC 0.592000 38 22 0 0 0.000692331 0 0 POU2F1 5451 broad.mit.edu 37 1 167385027 167385027 + Missense_Mutation SNP A A G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:167385027A>G ENST00000367862.5 + 16 2483 c.2248A>G c.(2248-2250)Acc>Gcc p.T750A POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A|POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A|POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 738 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CACCACCACCACCGCCTCCAA 0.582000 5 172 0 0 0.000602214 0 0 LRP1 4035 broad.mit.edu 37 12 57594821 57594821 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:57594821C>T ENST00000243077.3 + 65 10696 c.10230C>T c.(10228-10230)atC>atT p.I3410I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3410 LDL-receptor class A 22. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCACAGACATCCACGTCTGCT 0.612000 26 59 0 0 0.00106085 0 0 RNF220 55182 broad.mit.edu 37 1 44878091 44878091 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:44878091C>T ENST00000355387.2 + 2 772 c.322C>T c.(322-324)Cca>Tca p.P108S RNF220_ENST00000372247.2_Missense_Mutation_p.P108S|RNF220_ENST00000361799.2_Missense_Mutation_p.P108S Q5VTB9 RN220_HUMAN ring finger protein 220 108 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 AGATTGCACCCCAATCAGTAT 0.567000 45 119 0 0 0.0025221 0 0 KDM5B 10765 broad.mit.edu 37 1 202724528 202724528 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:202724528G>A ENST00000367265.3 - 11 2573 c.1409C>T c.(1408-1410)tCt>tTt p.S470F KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.S506F NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 470 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TGCAAGGACAGACTGCTCCAT 0.393000 37 215 0 0 0.00170553 0 0 RIN3 79890 broad.mit.edu 37 14 93154591 93154591 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:93154591C>T ENST00000216487.7 + 10 3111 c.2952C>T c.(2950-2952)ttC>ttT p.F984F RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 984 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AGCCCAACTTCCTGTGAGGCC 0.751000 11 5 0 0 0.000978159 0 0 MYH8 4626 broad.mit.edu 37 17 10300146 10300146 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10300146C>T ENST00000403437.2 - 31 4430 c.4336G>A c.(4336-4338)Gat>Aat p.D1446N CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1446 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGCTTCTTATCAAGGGCTGCA 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 31 32 0 0 0.0024448 0 0 ITGA1 3672 broad.mit.edu 37 5 52161619 52161619 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:52161619G>A ENST00000282588.6 + 6 1050 c.592G>A c.(592-594)Gaa>Aaa p.E198K NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 198 VWFA. E -> K (in Ref. 3). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TGACCTTCTTGAAAGAATGGA 0.358000 36 21 0 0 0.00058488 0 0 FOXP1 27086 broad.mit.edu 37 3 71026984 71026984 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:71026984G>A ENST00000318789.4 - 15 1868 c.1343C>T c.(1342-1344)tCg>tTg p.S448L FOXP1_ENST00000493089.1_Missense_Mutation_p.S448L|FOXP1_ENST00000498215.1_Missense_Mutation_p.S448L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S448L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S372L|FOXP1_ENST00000491238.1_Missense_Mutation_p.S450L|FOXP1_ENST00000475937.1_Missense_Mutation_p.S448L NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 448 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle 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 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCTACCTGACGAAATGGGCAC 0.488000 T PAX5 ALL 31 83 0 0 0.00209593 0 0 SCAND3 114821 broad.mit.edu 37 6 28542725 28542725 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28542725G>A ENST00000452236.2 - 3 2374 c.1757C>T c.(1756-1758)cCt>cTt p.P586L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 586 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 AGCCACCTTAGGAGTGACAGA 0.373000 9 18 0 0 0.000274275 0 0 TRGC1 6966 broad.mit.edu 37 7 38305208 38305208 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:38305208G>A ENST00000443402.2 - 0 71 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 CCAGCCTTCTGGAGCTTTGTT 0.383000 91 319 0 0 0.000781405 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940136 21940136 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21940136A>C ENST00000542643.2 - 10 761 c.459T>G c.(457-459)gtT>gtG p.V153V RAP1GAP_ENST00000374765.4_Silent_p.V153V|RAP1GAP_ENST00000374763.2_Silent_p.V153V|RAP1GAP_ENST00000374761.2_Silent_p.V184V|RAP1GAP_ENST00000290101.4_Silent_p.V217V|RAP1GAP_ENST00000374757.3_5'UTR NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 153 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CCATCTGGACAACATTAGGGA 0.602000 29 126 0 0 0.00209593 0 0 LTBP2 4053 broad.mit.edu 37 14 74978063 74978063 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:74978063G>A ENST00000261978.4 - 19 3299 c.2913C>T c.(2911-2913)atC>atT p.I971I LTBP2_ENST00000556690.1_Silent_p.I971I NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 971 Cys-rich.|EGF-like 7; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCATTCGTTGATATCTGCAA 0.572000 25 72 0 0 0.001512 0 0 THSD4 79875 broad.mit.edu 37 15 72021046 72021046 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:72021046G>A ENST00000355327.3 + 9 1650 c.1516G>A c.(1516-1518)Gag>Aag p.E506K THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E506K|THSD4_ENST00000357769.4_Missense_Mutation_p.E146K Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 506 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCCCACCAACGAGATCTTGGA 0.458000 32 89 0 0 0.00283554 0 0 CR1 1378 broad.mit.edu 37 1 207741198 207741198 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207741198C>T ENST00000367049.4 + 25 3982 c.3982C>T c.(3982-3984)Cct>Tct p.P1328S CR1_ENST00000400960.2_Missense_Mutation_p.P878S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.P878S|CR1_ENST00000367051.1_Missense_Mutation_p.P878S|CR1_ENST00000367052.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 878 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity 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 TCCAGTTATTCCTAATGGGAG 0.443000 47 104 0 0 0.000781405 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060384 128060384 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:128060384C>T ENST00000254730.6 + 5 1149 c.1095C>T c.(1093-1095)gaC>gaT p.D365D EEFSEC_ENST00000483457.1_Silent_p.D310D|EEFSEC_ENST00000483569.1_3'UTR NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 365 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CTATACTGGACTCTTTCAACT 0.493000 20 39 0 0 0.000958276 0 0 SMOC1 64093 broad.mit.edu 37 14 70461188 70461188 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:70461188A>C ENST00000381280.4 + 7 908 c.655A>C c.(655-657)Aga>Cga p.R219R SMOC1_ENST00000361956.3_Silent_p.R219R NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 219 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CACCAACATAAGAAATTCAGG 0.413000 43 118 0 0 0.00195071 0 0 MYH6 4624 broad.mit.edu 37 14 23855828 23855828 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23855828G>A ENST00000405093.3 - 33 4725 c.4655C>T c.(4654-4656)tCc>tTc p.S1552F MYH6_ENST00000356287.3_Missense_Mutation_p.S1552F NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1552 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GTGCTCCAGGGAGGCCTGGGA 0.632000 24 63 0 0 0.00229938 0 0 ITGB2 3689 broad.mit.edu 37 21 46313378 46313378 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:46313378C>T ENST00000397850.2 - 11 1617 c.1165G>A c.(1165-1167)Gga>Aga p.G389R ITGB2_ENST00000397854.3_Missense_Mutation_p.G332R|ITGB2_ENST00000355153.4_Missense_Mutation_p.G389R|ITGB2_ENST00000302347.5_Missense_Mutation_p.G389R|ITGB2_ENST00000397852.1_Missense_Mutation_p.G389R|ITGB2_ENST00000397857.1_Missense_Mutation_p.G389R P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 389 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TGCGTCACTCCATTGCTGCAG 0.602000 OREG0026255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 82 0 0 0.000814825 0 0 PID1 55022 broad.mit.edu 37 2 229890776 229890776 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:229890776C>T ENST00000392054.3 - 4 658 c.319G>A c.(319-321)Ggc>Agc p.G107S PID1_ENST00000354069.6_Missense_Mutation_p.G109S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.G76S|PID1_ENST00000409462.1_Missense_Mutation_p.G27S NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 109 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TCTGTGCAGCCTGACAAAAAC 0.532000 24 62 0 0 0.000720815 0 0 GJA8 2703 broad.mit.edu 37 1 147381047 147381047 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:147381047C>T ENST00000240986.4 + 2 1018 c.965C>T c.(964-966)tCc>tTc p.S322F GJA8_ENST00000369235.1_Missense_Mutation_p.S322F NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 322 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) ACACTGCCTTCCTACGCTCAG 0.627000 5 37 0 0 0.00116845 0 0 MLLT6 4302 broad.mit.edu 37 17 36873834 36873834 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:36873834C>T ENST00000325718.7 + 11 1892 c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 601 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CAGCACCCTCCCCTCCTCTTC 0.682000 T MLL AL 9 44 0 0 0.00136819 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038926 17038926 + Missense_Mutation SNP C C T rs61742969 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:17038926C>T ENST00000443236.1 - 25 3435 c.3404G>A c.(3403-3405)cGa>cAa p.R1135Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1088 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTCCAGATTCGGAATTCACC 0.627000 40 56 0 0 0.00222228 0 0 PCNT 5116 broad.mit.edu 37 21 47831640 47831640 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:47831640G>A ENST00000359568.5 + 28 5760 c.5653G>A c.(5653-5655)Gcg>Acg p.A1885T PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1885 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCAGCGGAAGGCGGCCCACTC 0.667000 9 40 0 0 0.000673444 0 0 MAN2B1 4125 broad.mit.edu 37 19 12769085 12769085 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12769085G>A ENST00000456935.2 - 9 1223 c.1183C>T c.(1183-1185)Cgg>Tgg p.R395W MAN2B1_ENST00000221363.4_Missense_Mutation_p.R394W|MAN2B1_ENST00000495617.1_Intron NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 395 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGGGCCGGCCGACTGGAAAAG 0.632000 27 38 0 0 0.00178596 0 0 DGKG 1608 broad.mit.edu 37 3 186015231 186015231 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:186015231C>T ENST00000265022.3 - 5 891 c.352G>A c.(352-354)Gag>Aag p.E118K DGKG_ENST00000544847.1_Missense_Mutation_p.E118K|DGKG_ENST00000344484.4_Missense_Mutation_p.E118K|DGKG_ENST00000382164.4_Missense_Mutation_p.E118K NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 118 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GCACAGGCCTCGTCTGCTTTG 0.448000 32 75 0 0 0.00111076 0 0 SLFN13 146857 broad.mit.edu 37 17 33772623 33772623 + Missense_Mutation SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33772623A>C ENST00000285013.6 - 3 352 c.77T>G c.(76-78)cTg>cGg p.L26R SLFN13_ENST00000533791.1_Missense_Mutation_p.L26R|SLFN13_ENST00000526861.1_Missense_Mutation_p.L26R|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.L26R|SLFN13_ENST00000360502.2_Intron NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 26 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTCTTCTCCCAGAGTCACTTC 0.473000 39 27 0 0 0.00170553 0 0 REN 5972 broad.mit.edu 37 1 204128574 204128574 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:204128574G>A ENST00000367195.2 - 5 685 c.642C>T c.(640-642)atC>atT p.I214I REN_ENST00000272190.8_Silent_p.I214I P00797 RENI_HUMAN renin 214 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CCCCTTGGGAGATGATGTTGT 0.562000 17 79 0 0 0.00121646 0 0 BARX2 8538 broad.mit.edu 37 11 129306851 129306851 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129306851G>A ENST00000281437.4 + 2 489 c.393G>A c.(391-393)aaG>aaA p.K131K BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 131 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCCGACAGAAGAAGCCCCGCC 0.632000 7 6 0 0 0.00198382 0 0 STEAP4 79689 broad.mit.edu 37 7 87910343 87910343 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:87910343C>T ENST00000380079.4 - 4 1137 c.1036G>A c.(1036-1038)Gat>Aat p.D346N AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.D170N|AC003991.3_ENST00000434733.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 346 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ACATATGAATCACTGAGCCAG 0.378000 10 32 0 0 0.000442599 0 0 CACNA1E 777 broad.mit.edu 37 1 181549846 181549846 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181549846C>T ENST00000526775.1 + 6 1050 c.885C>T c.(883-885)atC>atT p.I295I CACNA1E_ENST00000357570.5_Silent_p.I246I|CACNA1E_ENST00000367570.1_Silent_p.I295I|CACNA1E_ENST00000360108.3_Silent_p.I295I|CACNA1E_ENST00000367573.2_Silent_p.I295I|CACNA1E_ENST00000358338.5_Silent_p.I246I|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 295 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.I295I(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGATAACATCCTTTTTGCTG 0.547000 20 72 0 0 0.000958276 0 0 CD207 50489 broad.mit.edu 37 2 71061152 71061152 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71061152C>T ENST00000410009.3 - 3 236 c.e3-1 NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 AACCGGGGATCTGGGATTGAG 0.498000 5 12 0 0 0.00116845 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215884 130215884 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:130215884C>T ENST00000276211.5 + 2 590 c.245C>T c.(244-246)cCt>cTt p.P82L ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P70L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 82 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GAATTCAAACCTGACAGAGGT 0.582000 59 3 0 0 0.000781405 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64666919 64666919 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:64666919G>A ENST00000498707.1 - 3 979 c.637C>T c.(637-639)Cag>Tag p.Q213* ADAMTS9_ENST00000459780.1_Nonsense_Mutation_p.Q213*|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q213* NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 213 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGCTCTCTCTGGGGGGCGCTG 0.458000 109 424 0 0 0.000781405 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766066 77766066 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:77766066G>A ENST00000521891.2 + 10 7357 c.6909G>A c.(6907-6909)cgG>cgA p.R2303R ZFHX4_ENST00000518282.1_Silent_p.R2277R|ZFHX4_ENST00000050961.6_Silent_p.R2258R|ZFHX4_ENST00000455469.2_Silent_p.R2258R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2258 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTAATGAACGGTACATTCGAA 0.383000 HNSCC(33;0.089) 31 21 0 0 0.00127121 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816833 77816833 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:77816833C>T ENST00000334306.2 - 1 2169 c.2170G>A c.(2170-2172)Gga>Aga p.G724R NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 724 CGAGGAGCTCCCAACAGCTGC 0.502000 89 159 0 0 0.000781405 0 0 TP63 8626 broad.mit.edu 37 3 189587175 189587175 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:189587175G>A ENST00000264731.3 + 9 1281 c.1192G>A c.(1192-1194)Gat>Aat p.D398N TP63_ENST00000392461.3_Missense_Mutation_p.D304N|TP63_ENST00000418709.2_Missense_Mutation_p.D398N|TP63_ENST00000437221.1_Missense_Mutation_p.D304N|TP63_ENST00000449992.1_Missense_Mutation_p.D219N|TP63_ENST00000354600.5_Missense_Mutation_p.D304N|TP63_ENST00000382063.4_Missense_Mutation_p.D313N|TP63_ENST00000392463.2_Missense_Mutation_p.D304N|TP63_ENST00000320472.5_Missense_Mutation_p.D398N|TP63_ENST00000392460.3_Missense_Mutation_p.D398N|TP63_ENST00000456148.1_Missense_Mutation_p.D300N|TP63_ENST00000440651.2_Missense_Mutation_p.D394N NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 398 Oligomerization. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ATCCCCAGATGATGAACTGTT 0.418000 HNSCC(45;0.13) 14 18 0 0 0.000308642 0 0 HMG20B 10362 broad.mit.edu 37 19 3574509 3574509 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:3574509C>T ENST00000333651.6 + 4 351 c.276C>T c.(274-276)caC>caT p.H92H NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B 92 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GCACGCGCCACCCGGATCTGC 0.667000 7 5 0 0 0.000442599 0 0 MYLK4 340156 broad.mit.edu 37 6 2683260 2683260 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:2683260G>A ENST00000274643.7 - 7 1024 c.682C>T c.(682-684)Ctg>Ttg p.L228L MYLK4_ENST00000268446.5_Silent_p.L228L NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 228 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) CTTACCTTCAGGTCCAAGTGG 0.478000 30 98 0 0 0.00209593 0 0 MTMR11 10903 broad.mit.edu 37 1 149905813 149905813 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149905813G>A ENST00000439741.2 - 8 956 c.706C>T c.(706-708)Cct>Tct p.P236S MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.P208S|MTMR11_ENST00000369140.3_Missense_Mutation_p.P164S|MTMR11_ENST00000361405.6_Intron NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 236 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATTCGGTTAGGGACCCAGAAG 0.478000 55 79 0 0 0.000781405 0 0 TUB 7275 broad.mit.edu 37 11 8118838 8118838 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:8118838C>T ENST00000305253.4 + 8 1157 c.916C>T c.(916-918)Ctt>Ttt p.L306F TUB_ENST00000299506.2_Missense_Mutation_p.L251F|TUB_ENST00000534099.1_Missense_Mutation_p.L257F NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 251 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GGTCCAGGATCTTGAGGAGTT 0.597000 22 30 0 0 0.00188189 0 0 ADCY10 55811 broad.mit.edu 37 1 167779004 167779004 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:167779004C>T ENST00000367848.1 - 33 4965 c.4468G>A c.(4468-4470)Gaa>Aaa p.E1490K ADCY10_ENST00000545172.1_Missense_Mutation_p.E1429K|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.E1582K Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1582 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding 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 ACAATTTTTTCCCATGATGGG 0.388000 71 46 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9062912 9062912 + Silent SNP A A C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9062912A>C ENST00000397910.4 - 3 24737 c.24534T>G c.(24532-24534)acT>acG p.T8178T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8180 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTCTGTGGAAGTCTCTGGTG 0.507000 11 40 0 0 0.00244969 0 0 SLC44A1 23446 broad.mit.edu 37 9 108127850 108127850 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:108127850C>T ENST00000374720.3 + 11 1587 c.1340C>T c.(1339-1341)tCt>tTt p.S447F SLC44A1_ENST00000374723.1_Missense_Mutation_p.S447F|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S447F|SLC44A1_ENST00000343170.7_Missense_Mutation_p.S239F NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 447 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) GCAAAAGGATCTTTCATTATC 0.363000 23 79 0 0 0.00229938 0 0 IQCH 64799 broad.mit.edu 37 15 67571772 67571772 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:67571772C>T ENST00000335894.4 + 4 375 c.309C>T c.(307-309)ttC>ttT p.F103F IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Silent_p.F103F|IQCH_ENST00000358767.3_5'UTR NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 103 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CATTTATTTTCCCTCAGGAAT 0.343000 30 12 0 0 0.000814825 0 0 STK11IP 114790 broad.mit.edu 37 2 220479232 220479232 + Missense_Mutation SNP C C T rs138069010 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220479232C>T ENST00000456909.1 + 23 2923 c.2833C>T c.(2833-2835)Cgc>Tgc p.R945C STK11IP_ENST00000295641.10_Missense_Mutation_p.R956C Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 956 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTGGAGGCTCGCCAGTTCTT 0.557000 19 49 0 0 0.00047179 0 0 KRT25 147183 broad.mit.edu 37 17 38911301 38911301 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38911301G>A ENST00000312150.4 - 1 283 c.223C>T c.(223-225)Ctt>Ttt p.L75F NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 75 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTGCCAGAAAGGAGCCCCCGC 0.577000 38 65 0 0 0.00170553 0 0 GLB1L2 89944 broad.mit.edu 37 11 134228965 134228965 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:134228965C>T ENST00000535456.2 + 7 851 c.663C>T c.(661-663)gaC>gaT p.D221D GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.D221D|GLB1L2_ENST00000339772.7_Silent_p.D221D NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 221 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CACTGGAGGACCGTGGCATTG 0.582000 26 43 0 0 0.00127121 0 0 TRAJ42 28713 broad.mit.edu 37 14 22965907 22965907 + RNA SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22965907G>A ENST00000390495.1 + 0 36 TCTCATCTTTGGAAAAGGCAC 0.433000 34 78 0 0 0.00222228 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87163713 87163713 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:87163713G>A ENST00000285393.3 + 7 977 c.835G>A c.(835-837)Gaa>Aaa p.E279K CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 279 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 ACCTTTATTTGAAGCTGTAGG 0.299000 8 24 0 0 0.000673444 0 0 MYO18B 84700 broad.mit.edu 37 22 26270358 26270358 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26270358C>T ENST00000335473.7 + 23 4307 c.4057C>T c.(4057-4059)Cgc>Tgc p.R1353C MYO18B_ENST00000407587.2_Missense_Mutation_p.R1354C|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1353C NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1353 IQ. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTTTCTGTCTCGCCAGGAATT 0.547000 16 63 0 0 0.000308642 0 0 TINAG 27283 broad.mit.edu 37 6 54254608 54254608 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:54254608G>A ENST00000259782.4 + 11 1412 c.1316G>A c.(1315-1317)gGa>gAa p.G439E NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 439 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AATTCCTGGGGAAAGTCATGG 0.393000 23 25 0 0 0.001512 0 0 PDE6C 5146 broad.mit.edu 37 10 95422929 95422929 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:95422929G>A ENST00000371447.3 + 21 2650 c.2512G>A c.(2512-2514)Gaa>Aaa p.E838K PDE6C_ENST00000475427.2_Intron NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 838 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding p.E838K(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AGGAGGAGCCGAAAAAGGTTA 0.428000 9 10 0 0 0.000442599 0 0 KMT2C 58508 broad.mit.edu 37 7 151884350 151884350 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:151884350G>A ENST00000355193.2 - 33 5223 c.5005C>T c.(5005-5007)Cct>Tct p.P1669S KMT2C_ENST00000262189.6_Missense_Mutation_p.P1669S lysine (K)-specific methyltransferase 2C GGCTTACCAGGGAATTCTTCC 0.368000 14 78 0 0 0.000422831 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374907 8374907 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8374907C>T ENST00000538603.1 - 7 1464 c.906G>A c.(904-906)ctG>ctA p.L302L FAM90A1_ENST00000307435.6_Silent_p.L302L NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 302 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TGGGGAAGTTCAGGCAAGCCT 0.642000 9 69 0 0 0.000673444 0 0 GPR27 2850 broad.mit.edu 37 3 71804034 71804034 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:71804034G>A ENST00000304411.2 + 1 834 c.834G>A c.(832-834)acG>acA p.T278T NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 278 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) AATTCAAGACGGAGAAGAGGC 0.716000 12 25 0 0 0.000978159 0 0 MTOR 2475 broad.mit.edu 37 1 11190724 11190724 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11190724G>A ENST00000361445.4 - 39 5551 c.5475C>T c.(5473-5475)atC>atT p.I1825I MTOR_ENST00000376838.1_Silent_p.I30I NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1825 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 tggcgttggtgatgttggCCC 0.607000 5 23 0 0 0.000602214 0 0 S100A3 6274 broad.mit.edu 37 1 153520175 153520175 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:153520175G>A ENST00000368713.3 - 3 485 c.289C>T c.(289-291)Ccc>Tcc p.P97S S100A3_ENST00000368712.1_Missense_Mutation_p.P97S|S100A4_ENST00000368714.1_Intron NM_002960.1 NP_002951.1 P33764 S10A3_HUMAN S100 calcium binding protein A3 97 calcium ion binding|protein binding breast(1)|liver(1)|lung(1) 3 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GAGCAGGGGGGCTCTGAGGGG 0.622000 37 73 0 0 0.00195071 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962038 10962038 + Nonsense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:10962038G>A ENST00000240691.2 - 1 729 c.637C>T c.(637-639)Cga>Tga p.R213* NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 213 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCATGCAGTCGAATCTGCTTG 0.488000 12 2 0 0 0.000978159 0 0 KCNK15 60598 broad.mit.edu 37 20 43379280 43379280 + Missense_Mutation SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43379280C>A ENST00000372861.3 + 2 925 c.794C>A c.(793-795)cCc>cAc p.P265H NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 265 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) Agcccgcgccccccgggggcg 0.751000 12 5 4.3838e-07 1.61143e-06 0.00185496 1 0 SEMA6C 10500 broad.mit.edu 37 1 151110192 151110192 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:151110192C>T ENST00000341697.3 - 10 2442 c.751G>A c.(751-753)Ggg>Agg p.G251R Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 251 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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) CTTACCCTCCCCAGCCGAGCA 0.572000 41 92 0 0 0.000781405 0 0 TRAV30 28652 broad.mit.edu 37 14 22636363 22636363 + RNA SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22636363G>T ENST00000557168.1 + 0 39 GCACCTTGTTGTGGCAGTTGA 0.473000 48 122 3.85841e-42 1.43334e-41 0.000781405 1 0 SLC6A19 340024 broad.mit.edu 37 5 1216766 1216766 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:1216766C>T ENST00000304460.10 + 7 1037 c.981C>T c.(979-981)ttC>ttT p.F327F NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 327 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 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) TCATTGGGTTCCGCGCCACAC 0.597000 16 29 0 0 0.000308642 0 0 PRG4 10216 broad.mit.edu 37 1 186266007 186266007 + Translation_Start_Site SNP G G A rs149511072 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186266007G>A ENST00000445192.2 + 0 45 PRG4_ENST00000367486.3_De_novo_Start_InFrame|PRG4_ENST00000367484.3_De_novo_Start_InFrame|PRG4_ENST00000367483.4_De_novo_Start_InFrame|PRG4_ENST00000367485.4_De_novo_Start_InFrame NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGAAAACAACGATGGCATGGA 0.393000 25 22 0 0 0.00047179 0 0 ANKRD24 170961 broad.mit.edu 37 19 4222714 4222714 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:4222714G>A ENST00000600132.1 + 20 3495 c.3219G>A c.(3217-3219)aaG>aaA p.K1073K ANKRD24_ENST00000318934.4_Silent_p.K1073K|ANKRD24_ENST00000262970.5_Silent_p.K1163K NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1073 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AAGCCTTGAAGGAGCAGCCGG 0.597000 12 16 0 0 0.000978159 0 0 ITLN1 55600 broad.mit.edu 37 1 160854650 160854650 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160854650G>A ENST00000326245.3 - 2 133 c.18C>T c.(16-18)ttC>ttT p.F6F NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 6 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GAAACAGCAGGAAGCTGAGTT 0.507000 38 199 0 0 0.00170553 0 0 MECP2 4204 broad.mit.edu 37 X 153296706 153296706 + Missense_Mutation SNP G G A rs61749710 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153296706G>A ENST00000407218.1 - 5 649 c.464C>T c.(463-465)cCa>cTa p.P155L MECP2_ENST00000303391.6_Silent_p.P191P|MECP2_ENST00000453960.2_Silent_p.P203P P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 72 MBD. F -> I (in RTT).|F -> S (in RTT; dbSNP:rs28934905). negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTCCCTTTGGGGCGTCCCC 0.617000 86 2 0 0 0.000781405 0 0 COL24A1 255631 broad.mit.edu 37 1 86557993 86557993 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:86557993C>T ENST00000370571.2 - 6 1976 c.1610G>A c.(1609-1611)gGa>gAa p.G537E COL24A1_ENST00000436319.1_Missense_Mutation_p.G537E NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 537 Collagen-like 1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCTGGATCTCCTTTGGGGCC 0.313000 12 49 0 0 0.00152264 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45258223 45258223 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:45258223G>A ENST00000352766.7 + 17 1680 c.1680G>A c.(1678-1680)ttG>ttA p.L560L ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389774.2_Silent_p.L381L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L481L|ARHGAP8_ENST00000356099.6_Silent_p.L350L|ARHGAP8_ENST00000389773.5_Silent_p.L472L|ARHGAP8_ENST00000517296.3_Silent_p.L560L breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GGCTGAATTTGATCTGGCCAT 0.522000 67 33 0 0 0.000781405 0 0 CDCP2 200008 broad.mit.edu 37 1 54610386 54610386 + Silent SNP G G A rs150004831 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:54610386G>A ENST00000371330.1 - 2 1027 c.180C>T c.(178-180)atC>atT p.I60I RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 60 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CGGCCACCACGATCAGCCAGC 0.557000 22 22 0 0 0.00188189 0 0 DHX9 1660 broad.mit.edu 37 1 182845333 182845333 + Frame_Shift_Del DEL T T - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:182845333delT ENST00000367549.3 + 17 2074 c.1964delT c.(1963-1965)gtfs p.V655fs NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 655 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCTGTGTTGGTTTTTTTGCCT 0.378 7 243 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557011 214557019 + In_Frame_Del DEL CTCCCGGAG CTCCCGGAG - rs143375730 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:214557011_214557019delCTCCCGGAG ENST00000366956.5 - 13 2373_2381 c.2179_2187delCTCCGGGAG c.(2179-2187)del p.LRE727del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 727 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ACTCCATCTTCTCCCGGAGCATGGGGATC 0.617 9 67 --- --- --- --- PCNXL2 80003 broad.mit.edu 37 1 233121997 233121997 + Frame_Shift_Del DEL G G - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:233121997delG ENST00000258229.8 - 33 6315 c.6081delC c.(6079-6081)tcfs p.S2027fs PCNXL2_ENST00000344698.2_Frame_Shift_Del_p.S679fs NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 2027 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGCTCAGGGTGGAGCTGGTGG 0.652 2 4 --- --- --- --- RFTN1 23180 broad.mit.edu 37 3 16419362 16419362 + Frame_Shift_Del DEL T T - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:16419362delT ENST00000334133.4 - 5 961 c.689delA c.(688-690)ggfs p.E230fs RFTN1_ENST00000432519.1_Frame_Shift_Del_p.E194fs NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 230 plasma membrane 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 GAGGGGCACCTCCCCTCTGGG 0.637 23 22 --- --- --- --- NMU 10874 broad.mit.edu 37 4 56465332 56465337 + In_Frame_Del DEL CTTCTT CTTCTT - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:56465332_56465337delCTTCTT ENST00000264218.3 - 9 606_611 c.501_506delAAGAAG c.(499-507)ggg>gg p.GRR167del NMU_ENST00000511469.1_In_Frame_Del_p.GRR151del|NMU_ENST00000505262.1_In_Frame_Del_p.GRR140del|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000507338.1_In_Frame_Del_p.GRR142del NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U 167 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) CCCTGCTGACCTTCTTCCATTCCGTG 0.306 7 27 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82545344 82545344 + Frame_Shift_Del DEL A A - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:82545344delA ENST00000423517.2 - 7 12295 c.11958delT c.(11956-11958)ctfs p.L3986fs PCLO_ENST00000437081.1_Frame_Shift_Del_p.L706fs|PCLO_ENST00000333891.8_Frame_Shift_Del_p.L3986fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3917 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTGCTATCATAAGGGGTTGGT 0.398 80 175 --- --- --- --- RGS20 8601 broad.mit.edu 37 8 54793609 54793610 + Frame_Shift_Ins INS - - C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:54793609_54793610insC ENST00000276500.4 + 1 156_157 c.34_35insC c.(34-36)ttcfs p.F12fs RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000297313.3_Intron|RGS20_ENST00000344277.6_Intron NM_003702.3 NP_003693.2 O76081 RGS20_HUMAN regulator of G-protein signaling 20 159 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 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) GCCGGCCGGGGCTTCCTCCCCG 0.678 10 32 --- --- --- --- CACNA2D4 93589 broad.mit.edu 37 12 1995401 1995401 + Frame_Shift_Del DEL A A - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:1995401delA ENST00000382722.5 - 8 1343 c.981delT c.(979-981)atfs p.I327fs CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.I327fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.I327fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.I263fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.I263fs NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 327 VWFA. I -> V (in dbSNP:rs10735005). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CTATGATATTAATGAAGTCAT 0.493 31 29 --- --- --- --- IGHG4 3503 broad.mit.edu 37 14 106090958 106090967 + RNA DEL GAGTCCAGCA GAGTCCAGCA - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106090958_106090967delGAGTCCAGCA ENST00000390543.2 - 0 829_838 GGAGCCGTCGGAGTCCAGCACGGGAGGCGT 0.605 10 462 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48797337 48797339 + In_Frame_Del DEL GTT GTT - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:48797337_48797339delGTT ENST00000316623.5 - 16 2298_2300 c.1843_1845delAAC c.(1843-1845)del p.N615del NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 615 EGF-like 10; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TTTCACACTCGTTAATGTCTGTG 0.424 11 32 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578384 7578401 + In_Frame_Del DEL GCAGCGCTCATGGTGGGG GCAGCGCTCATGGTGGGG - rs68130327 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG ENST00000420246.2 - 5 661_678 c.529_546delCCCCACCATGAGCGCTGC c.(529-546)del p.PHHERC177del TP53_ENST00000269305.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 177 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(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) CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC 0.638 111 """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) 11 11 --- --- --- --- KIAA0355 9710 broad.mit.edu 37 19 34840010 34840011 + Frame_Shift_Del DEL TC TC - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:34840010_34840011delTC ENST00000299505.6 + 12 3650_3651 c.2777_2778delTC c.(2776-2778)tfs p.F926fs AC010504.2_ENST00000591311.1_RNA NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 926 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GACAGCTTGTTCTCCATGTTTT 0.559 11 57 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16347969 16347969 + Frame_Shift_Del DEL G G - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:16347969delG ENST00000408042.1 - 23 4158 c.4001delC c.(4000-4002)ctfs p.P1334fs KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron NM_001199866.1 NP_001186795.1 Q96L93 KI16B_HUMAN kinesin family member 16B 0 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 ACCCACTGAAGGTTTGAGTTT 0.428 39 149 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48888962 48888980 + Frame_Shift_Del DEL GGCTCTCCAGGTCTTTGGA GGCTCTCCAGGTCTTTGGA - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:48888962_48888980delGGCTCTCCAGGTCTTTGGA ENST00000315869.7 - 9 1475_1493 c.1216_1234delTCCAAAGACCTGGAGAGCC c.(1216-1236)ggfs p.SKDLESR406fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 406 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GATCGCTGCCGGCTCTCCAGGTCTTTGGAGCGCTGCTGC 0.607 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 5 3 --- --- --- ---