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 IGKJ5 28946 broad.mit.edu 37 2 89160094 89160094 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:89160094C>T ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA|IGKJ5_ENST00000390238.2_RNA AATCTCCAGTCGTGTCCCTTG 0.383000 32 33 0 0 0.004289 0 0 PTPN5 84867 broad.mit.edu 37 11 18754872 18754872 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:18754872G>A ENST00000396170.1 - 11 2296 c.1032C>T c.(1030-1032)atC>atT p.I344I PTPN5_ENST00000396167.2_Silent_p.I344I|PTPN5_ENST00000477854.1_Silent_p.I180I|PTPN5_ENST00000396171.4_Silent_p.I376I|PTPN5_ENST00000358540.2_Silent_p.I376I|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Silent_p.I352I NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 376 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 CCGTGCTGACGATGGGTCCCT 0.617000 26 55 0 0 0.006320 0 0 LY9 4063 broad.mit.edu 37 1 160769762 160769762 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:160769762C>T ENST00000263285.5 + 2 374 c.344C>T c.(343-345)tCc>tTc p.S115F LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.S115F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.S115F|LY9_ENST00000368041.2_Missense_Mutation_p.S75F NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 115 Ig-like V-type 1. 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) TGGAGTTACTCCCTGTGCATC 0.463000 42 83 0 0 0.008740 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79973189 79973189 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:79973189C>T ENST00000306729.7 + 13 1689 c.1592C>T c.(1591-1593)cCc>cTc p.P531L ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 534 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGTGGCGATCCCTCCCGAGTC 0.677000 T TFE3 alveolar soft part sarcoma 12 30 0 0 0.001368 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174320 207174320 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:207174320C>T ENST00000374423.3 + 5 5454 c.5068C>T c.(5068-5070)Cgg>Tgg p.R1690W NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1690 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 AGCCAGTCTTCGGAAGGATCC 0.458000 12 41 0 0 0.000978 0 0 LHCGR 3973 broad.mit.edu 37 2 48936151 48936151 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:48936151C>T ENST00000294954.7 - 8 637 c.616G>A c.(616-618)Gaa>Aaa p.E206K STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.E206K|LHCGR_ENST00000344775.3_Missense_Mutation_p.E206K|LHCGR_ENST00000405626.1_Missense_Mutation_p.E206K|LHCGR_ENST00000401907.1_Missense_Mutation_p.E206K NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 206 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.E206K(1) 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) TGTACGTTTTCCTTTAGCTCC 0.507000 40 37 0 0 0.006999 0 0 ZBTB48 3104 broad.mit.edu 37 1 6649218 6649218 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:6649218C>T ENST00000377674.4 + 11 2171 c.2013C>T c.(2011-2013)gtC>gtT p.V671V NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 671 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) GCCCAGGTGTCCTGGAGCCCT 0.652000 22 59 0 0 0.002299 0 0 PTPRT 11122 broad.mit.edu 37 20 40739043 40739043 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:40739043G>A ENST00000373198.3 - 24 3485 c.3250C>T c.(3250-3252)Ctt>Ttt p.L1084F PTPRT_ENST00000356100.2_Missense_Mutation_p.L1071F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L1072F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1061F|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1052F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1065F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1062F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1062 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) AAGCCCAGAAGGCCAGTGGCA 0.607000 26 59 0 0 0.004656 0 0 HGF 3082 broad.mit.edu 37 7 81388081 81388081 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:81388081C>T ENST00000222390.5 - 3 520 c.294G>A c.(292-294)tgG>tgA p.W98* HGF_ENST00000354224.6_Nonsense_Mutation_p.W98*|HGF_ENST00000457544.2_Nonsense_Mutation_p.W98*|HGF_ENST00000453411.1_Nonsense_Mutation_p.W98*|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Nonsense_Mutation_p.W98*|HGF_ENST00000423064.2_Nonsense_Mutation_p.W98* NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 98 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.W98C(2) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TGAAGGGGAACCAGAGGCATT 0.323000 32 59 0 0 0.003271 0 0 ZNF679 168417 broad.mit.edu 37 7 63726906 63726906 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:63726906G>A ENST00000421025.1 + 5 1164 c.895G>A c.(895-897)Gaa>Aaa p.E299K ZNF679_ENST00000255746.4_Missense_Mutation_p.E299K NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATACACATGTGAAGAATGTGG 0.438000 9 13 0 0 0.004482 0 0 FUT9 10690 broad.mit.edu 37 6 96651698 96651698 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:96651698G>A ENST00000302103.5 + 3 993 c.667G>A c.(667-669)Gga>Aga p.G223R NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 223 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GCAAGCATTTGGAGAATATGT 0.368000 12 26 0 0 0.001368 0 0 TMEM175 84286 broad.mit.edu 37 4 951869 951869 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:951869G>A ENST00000264771.4 + 11 1285 c.1100G>A c.(1099-1101)cGg>cAg p.R367Q TMEM175_ENST00000515740.1_Missense_Mutation_p.R251Q|TMEM175_ENST00000508204.1_Missense_Mutation_p.R285Q NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 367 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCCTTCGCCCGGCAGCCCCGC 0.682000 4 55 0 0 0.000602 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120331436 120331436 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:120331436C>T ENST00000397843.2 + 27 2749 c.2583C>T c.(2581-2583)atC>atT p.I861I ARHGEF12_ENST00000532993.1_Silent_p.I758I|ARHGEF12_ENST00000356641.3_Silent_p.I842I NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 861 DH. 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) CCTCTGTTATCGATCAGATTG 0.328000 T MLL AML 49 28 0 0 0.003610 0 0 BPIFB4 149954 broad.mit.edu 37 20 31671589 31671589 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:31671589C>T ENST00000375483.3 + 3 586 c.586C>T c.(586-588)Ctc>Ttc p.L196F NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 196 Gly-rich. cytoplasm|extracellular region lipid binding CGGAGGTGGTCTCCTTGGTGA 0.662000 27 39 0 0 0.002096 0 0 IGF2R 3482 broad.mit.edu 37 6 160471555 160471555 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:160471555C>T ENST00000356956.1 + 19 2713 c.2565C>T c.(2563-2565)acC>acT p.T855T NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 855 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) TGGCAAAGACCGGCCCGGTGG 0.542000 39 62 0 0 0.002222 0 0 ZNF536 9745 broad.mit.edu 37 19 30935403 30935403 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:30935403G>A ENST00000355537.3 + 2 1081 c.934G>A c.(934-936)Gag>Aag p.E312K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 312 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) GGCTTCGCAGGAGGAGGAGCT 0.642000 46 77 0 0 0.003610 0 0 AGO4 192670 broad.mit.edu 37 1 36282515 36282515 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:36282515C>T ENST00000373210.3 + 2 297 c.52C>T c.(52-54)Cgt>Tgt p.R18C NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 GCCACCTCGTCGTCCTGGCCT 0.378000 60 82 0 0 0.003610 0 0 C10orf71 118461 broad.mit.edu 37 10 50531454 50531454 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:50531454G>A ENST00000374144.3 + 3 1152 c.864G>A c.(862-864)ctG>ctA p.L288L C10orf71_ENST00000323868.4_Silent_p.L288L Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 288 endometrium(1) 1 CAAAGCTGCTGGAGAGAAAGG 0.537000 15 9 0 0 0.004007 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:16279248C>T ENST00000343518.6 - 4 1026 c.975G>A c.(973-975)gtG>gtA p.V325V NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 32 582 0 0 0.005524 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093442 30093442 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:30093442G>A ENST00000567636.1 + 0 1817 NR_003558.1 TGCCCCACCCGGCTTGATTCA 0.542000 57 47 0 0 0.003610 0 0 CUBN 8029 broad.mit.edu 37 10 16877024 16877024 + Missense_Mutation SNP C C T rs145661638 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:16877024C>T ENST00000377833.4 - 64 10416 c.10351G>A c.(10351-10353)Gat>Aat p.D3451N NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3451 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCCAAGAAATCGTTTCTGCAT 0.388000 5 21 0 0 0.000602 0 0 SHCBP1 79801 broad.mit.edu 37 16 46638319 46638319 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:46638319G>T ENST00000303383.3 - 6 1010 c.744C>A c.(742-744)caC>caA p.H248Q NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 248 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) ACAACAGATTGTGGTAGTCAA 0.383000 41 64 3.2641e-12 3.63556e-12 0.003214 1 0 SEMA4G 57715 broad.mit.edu 37 10 102739941 102739941 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:102739941C>T ENST00000210633.3 + 10 1269 c.1191C>T c.(1189-1191)gtC>gtT p.V397V MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Silent_p.V397V|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Silent_p.V397V Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 397 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CATCCCTGGTCCTGGACTTTG 0.572000 9 27 0 0 0.008291 0 0 ADD2 119 broad.mit.edu 37 2 70917918 70917918 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:70917918C>T ENST00000264436.3 - 8 1293 c.849_splice c.e8+1 p.K283_splice ADD2_ENST00000407644.2_Splice_Site_p.K283_splice|ADD2_ENST00000413157.2_Splice_Site_p.K283_splice|ADD2_ENST00000355733.3_Splice_Site_p.K283_splice|ADD2_ENST00000430656.1_Splice_Site_p.K299_splice|AC007395.3_ENST00000457851.1_RNA NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 283 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CTAAGCTAACCTTGCAGGTGG 0.488000 35 43 0 0 0.004878 0 0 ADORA3 140 broad.mit.edu 37 1 112026335 112026335 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:112026335C>T ENST00000369716.4 - 6 1151 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K ADORA3_ENST00000369717.4_Missense_Mutation_p.E259K NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGAGCCATTTCCTTTGGAGTC 0.423000 10 6 0 0 0.008291 0 0 CRTC3 64784 broad.mit.edu 37 15 91150629 91150629 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:91150629C>T ENST00000420329.2 + 6 643 c.496C>T c.(496-498)Ctt>Ttt p.L166F CRTC3_ENST00000558619.1_3'UTR|CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.L166F NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 166 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) TGATTCTGCTCTTCACACGAG 0.522000 T MAML2 salivary gland mucoepidermoid 41 65 0 0 0.003610 0 0 POTEC 388468 broad.mit.edu 37 18 14542758 14542758 + Missense_Mutation SNP C C T rs145930826 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:14542758C>T ENST00000358970.5 - 1 387 c.388G>A c.(388-390)Gag>Aag p.E130K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 130 p.E130K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TACCTCGGCTCCATGAAGGCG 0.607000 5 104 0 0 0.003080 0 0 ROCK2 9475 broad.mit.edu 37 2 11338879 11338879 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:11338879G>T ENST00000315872.6 - 24 3380 c.2932C>A c.(2932-2934)Cta>Ata p.L978I ROCK2_ENST00000401753.1_Missense_Mutation_p.L735I NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 978 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity p.L978I(2) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TCACTAGTTAGTGTCCTATTA 0.269000 11 20 0.00010058 0.000111064 0.001368 1 0 OR51T1 401665 broad.mit.edu 37 11 4903607 4903607 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:4903607C>T ENST00000380378.1 + 1 559 c.559C>T c.(559-561)Ccc>Tcc p.P187S MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.P160S|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTCTTACTTCCCCTTCTTGT 0.458000 26 136 0 0 0.005443 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208807 140208807 + Silent SNP C C T rs147499647 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140208807C>T ENST00000529310.1 + 1 1245 c.1131C>T c.(1129-1131)ctC>ctT p.L377L PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L377L|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACCTCGATTCAGGTG 0.512000 34 120 0 0 0.006230 0 0 ZNF684 127396 broad.mit.edu 37 1 41012272 41012272 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:41012272C>T ENST00000372699.3 + 5 528 c.277C>T c.(277-279)Cgg>Tgg p.R93W ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) AGGGAAGCATCGGGAAAGCAA 0.353000 17 41 0 0 0.008871 0 0 ALPL 249 broad.mit.edu 37 1 21889741 21889741 + Missense_Mutation SNP G G A rs138587317 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:21889741G>A ENST00000374840.3 + 5 686 c.436G>A c.(436-438)Gag>Aag p.E146K ALPL_ENST00000540617.1_Missense_Mutation_p.E91K|ALPL_ENST00000374832.1_Missense_Mutation_p.E146K|ALPL_ENST00000539907.1_Missense_Mutation_p.E69K|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.E146K NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 146 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding p.E146K(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CCAGGGGAACGAGGTCACCTC 0.667000 23 33 0 0 0.002299 0 0 KERA 11081 broad.mit.edu 37 12 91445191 91445191 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:91445191C>T ENST00000266719.3 - 3 1238 c.991G>A c.(991-993)Gaa>Aaa p.E331K NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 331 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GGTTTGATTTCATTTCCATCC 0.418000 10 41 0 0 0.008291 0 0 LAMA1 284217 broad.mit.edu 37 18 6971939 6971939 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:6971939C>T ENST00000389658.3 - 48 6909 c.6816G>A c.(6814-6816)ttG>ttA p.L2272L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2272 Laminin G-like 1. 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) AGGCCTCCCCCAAGCAGCCTT 0.433000 6 41 0 0 0.001984 0 0 AKT1 207 broad.mit.edu 37 14 105242064 105242064 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:105242064G>A ENST00000554581.1 - 4 1840 c.360C>T c.(358-360)ttC>ttT p.F120F AKT1_ENST00000544168.1_Silent_p.F58F|AKT1_ENST00000402615.2_Silent_p.F120F|AKT1_ENST00000349310.3_Silent_p.F120F|AKT1_ENST00000554848.1_Silent_p.F120F|AKT1_ENST00000555528.1_Silent_p.F120F|AKT1_ENST00000407796.2_Silent_p.F120F P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 120 activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) AGCCCGACCGGAAGTCCATCT 0.637000 1 Mis """breast, colorectal, ovarian, NSCLC""" 23 41 0 0 0.003330 0 0 AHCYL2 23382 broad.mit.edu 37 7 129066334 129066334 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:129066334G>A ENST00000325006.3 + 16 1813 c.1759G>A c.(1759-1761)Gag>Aag p.E587K AHCYL2_ENST00000474594.1_Missense_Mutation_p.E484K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E484K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E485K|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E506K|AHCYL2_ENST00000446544.2_Missense_Mutation_p.E586K NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 587 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 CCACTTGACAGAGCTGACAGA 0.502000 34 61 0 0 0.002096 0 0 MYOM2 9172 broad.mit.edu 37 8 2017449 2017449 + Missense_Mutation SNP G G A rs149104727 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:2017449G>A ENST00000262113.4 + 7 847 c.706G>A c.(706-708)Gga>Aga p.G236R MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 236 Ig-like C2-type 1. 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) CAATGCCCACGGACAAGTGTC 0.552000 26 35 0 0 0.007291 0 0 ZNF226 7769 broad.mit.edu 37 19 44680638 44680638 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:44680638C>T ENST00000590089.1 + 7 1590 c.1223C>T c.(1222-1224)tCc>tTc p.S408F ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F|ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F Q9NYT6 ZN226_HUMAN zinc finger protein 226 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) CATCTTCAATCCCATCAAAGA 0.443000 11 36 0 0 0.000978 0 0 MROH2B 133558 broad.mit.edu 37 5 41058177 41058177 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:41058177G>A ENST00000399564.4 - 7 1194 c.744C>T c.(742-744)ttC>ttT p.F248F MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GAGTGACATGGAAATCAATCT 0.527000 17 38 0 0 0.001523 0 0 NDST4 64579 broad.mit.edu 37 4 115997281 115997281 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:115997281G>A ENST00000264363.2 - 2 1590 c.912C>T c.(910-912)atC>atT p.I304I NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 304 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) TGTCCACAAGGATGTACCTGT 0.403000 17 71 0 0 0.004990 0 0 HEXB 3074 broad.mit.edu 37 5 74012481 74012481 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:74012481A>T ENST00000511181.1 + 9 1389 c.477A>T c.(475-477)gaA>gaT p.E159D HEXB_ENST00000261416.7_Missense_Mutation_p.E384D P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 384 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) AGAAACTAGAATCTTTCTACA 0.269000 11 32 0 0 0.002450 0 0 RNF217 154214 broad.mit.edu 37 6 125397950 125397950 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:125397950C>T ENST00000521654.2 + 4 1429 c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C RNF217_ENST00000275184.6_Missense_Mutation_p.R121C|RNF217_ENST00000560949.1_Missense_Mutation_p.R242C|RNF217_ENST00000368414.2_Missense_Mutation_p.R39C|RNF217_ENST00000359704.2_Missense_Mutation_p.R185C Q8TC41 RN217_HUMAN ring finger protein 217 185 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) ATGCAAATATCGCTACCTCCC 0.438000 30 82 0 0 0.008361 0 0 C1QC 714 broad.mit.edu 37 1 22974110 22974110 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:22974110C>T ENST00000374639.3 + 3 690 c.572C>T c.(571-573)aCc>aTc p.T191I C1QC_ENST00000374637.1_Missense_Mutation_p.T191I|C1QC_ENST00000374640.4_Missense_Mutation_p.T191I NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 191 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AAAGTGGTCACCTTCTGTGGC 0.587000 21 55 0 0 0.001882 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916831 42916831 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:42916831C>T ENST00000316161.4 - 1 802 c.478G>A c.(478-480)Gat>Aat p.D160N CYP8B1_ENST00000437102.1_Missense_Mutation_p.D160N|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 160 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CAACTGGCATCCAGACTCCAG 0.522000 31 46 0 0 0.008361 0 0 EVPL 2125 broad.mit.edu 37 17 74013831 74013831 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:74013831G>A ENST00000301607.3 - 14 1952 c.1699C>T c.(1699-1701)Cac>Tac p.H567Y EVPL_ENST00000586740.1_Missense_Mutation_p.H589Y NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 567 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 TCATGGCTGTGGATGCGGCCC 0.687000 27 45 0 0 0.006320 0 0 CYP2C18 1562 broad.mit.edu 37 10 96484201 96484201 + Missense_Mutation SNP G G A rs142667327 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:96484201G>A ENST00000285979.6 + 7 1259 c.1060G>A c.(1060-1062)Gag>Aag p.E354K CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E295K 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) TGTGGTGCACGAGATCCAGAG 0.498000 65 53 0 0 0.003610 0 0 NEO1 4756 broad.mit.edu 37 15 73590734 73590734 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:73590734C>T ENST00000339362.5 + 28 4394 c.3947C>T c.(3946-3948)tCg>tTg p.S1316L NEO1_ENST00000558964.1_Missense_Mutation_p.S1305L|NEO1_ENST00000261908.6_Missense_Mutation_p.S1316L|NEO1_ENST00000560262.1_Missense_Mutation_p.S1263L Q92859 NEO1_HUMAN neogenin 1 1316 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CCAGCCTCTTCGTCTCAAACA 0.493000 25 43 0 0 0.003954 0 0 SERPINA3 12 broad.mit.edu 37 14 95081262 95081262 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:95081262G>A ENST00000553947.1 + 5 1447 c.559G>A c.(559-561)Ggc>Agc p.G187S SERPINA3_ENST00000393078.3_Missense_Mutation_p.G162S|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.G162S|SERPINA3_ENST00000467132.1_Missense_Mutation_p.G162S P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 162 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAGGCTGTATGGCTCCGAGGC 0.512000 18 29 0 0 0.007413 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390381 150390381 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150390381G>A ENST00000223293.5 + 3 1101 c.1007G>A c.(1006-1008)aGg>aAg p.R336K NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 336 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) AAGACTCCTAGGTTATAGTTA 0.323000 14 27 0 0 0.001855 0 0 DDX60L 91351 broad.mit.edu 37 4 169279421 169279421 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:169279421G>A ENST00000511577.1 - 38 5245 c.4998C>T c.(4996-4998)tcC>tcT p.S1666S DDX60L_ENST00000260184.7_Silent_p.S1666S Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1666 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) GTTCACTCAAGGAGTCACTGt 0.294000 8 18 0 0 0.003080 0 0 MYO3A 53904 broad.mit.edu 37 10 26455066 26455066 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:26455066G>A ENST00000265944.5 + 27 3236 c.3070G>A c.(3070-3072)Gaa>Aaa p.E1024K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1024 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CACCATTTTGGAAAAAGCTGG 0.423000 35 174 0 0 0.002836 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054681 4054681 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:4054681G>A ENST00000322357.4 - 2 828 c.550C>T c.(550-552)Ccg>Tcg p.P184S ZBTB7A_ENST00000601588.1_Missense_Mutation_p.P184S NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 184 Ala-rich. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGACCACGGGAAGCTGGCA 0.706000 5 5 0 0 0.000602 0 0 ITGA4 3676 broad.mit.edu 37 2 182340015 182340015 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:182340015G>A ENST00000397033.2 + 4 986 c.556_splice c.e4+1 p.D186_splice ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Splice_Site_p.G186_splice NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 186 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) GTGTTATCAAGGTAAGGCATG 0.358000 51 51 0 0 0.003610 0 0 TOX3 27324 broad.mit.edu 37 16 52497939 52497939 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:52497939C>T ENST00000219746.9 - 3 599 c.315G>A c.(313-315)caG>caA p.Q105Q TOX3_ENST00000407228.3_Silent_p.Q100Q NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 105 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GAGGGGGAAACTGGGGTGTGA 0.532000 30 51 0 0 0.007291 0 0 PPARG 5468 broad.mit.edu 37 3 12447402 12447402 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:12447402C>T ENST00000397026.2 + 7 958 c.575C>T c.(574-576)cCa>cTa p.P192L PPARG_ENST00000287820.6_Missense_Mutation_p.P214L|PPARG_ENST00000397010.2_Missense_Mutation_p.P186L|PPARG_ENST00000397015.2_Missense_Mutation_p.P186L|PPARG_ENST00000539812.1_Missense_Mutation_p.P184L|PPARG_ENST00000397000.1_Missense_Mutation_p.P186L|PPARG_ENST00000397012.2_Missense_Mutation_p.P186L|PPARG_ENST00000309576.6_Missense_Mutation_p.P186L P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 214 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) GGGCGGATGCCACAGGCCGAG 0.532000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 149 292 0 0 0.003610 0 0 DMBT1 1755 broad.mit.edu 37 10 124351993 124351993 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:124351993C>T ENST00000368909.3 + 20 2488 c.2382C>T c.(2380-2382)ccC>ccT p.P794P DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.P784P|DMBT1_ENST00000338354.3_Silent_p.P794P|DMBT1_ENST00000344338.3_Silent_p.P784P|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 794 SRCR 6. 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) GCTCAGGACCCATTGTTCTGG 0.607000 77 98 0 0 0.003610 0 0 OR10H3 26532 broad.mit.edu 37 19 15852646 15852646 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:15852646G>A ENST00000305892.1 + 1 444 c.444G>A c.(442-444)tgG>tgA p.W148* NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 148 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 TTGTGGCCTGGACCTGGGCTG 0.512000 41 24 0 0 0.006230 0 0 MSRA 4482 broad.mit.edu 37 8 10159071 10159071 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:10159071G>T ENST00000528246.1 + 5 784 c.161G>T c.(160-162)cGa>cTa p.R54L MSRA_ENST00000382490.5_Missense_Mutation_p.R77L|MSRA_ENST00000441698.2_Missense_Mutation_p.R80L|MSRA_ENST00000518255.1_Missense_Mutation_p.R120L|MSRA_ENST00000317173.4_Missense_Mutation_p.R120L NM_001199729.1 NP_001186658.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 120 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) GAAGTCGTCCGAGTGGTGTAC 0.433000 23 67 2.98393e-07 3.30278e-07 0.002780 1 0 RAB40B 10966 broad.mit.edu 37 17 80616565 80616565 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:80616565G>A ENST00000571995.1 - 5 498 c.367C>T c.(367-369)Ctg>Ttg p.L123L RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR NM_006822.2 NP_006813.1 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 123 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TTCCCCACCAGGATCTTGGGG 0.627000 16 25 0 0 0.004990 0 0 PARP9 83666 broad.mit.edu 37 3 122255868 122255868 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:122255868G>A ENST00000462315.1 - 9 2111 c.1818C>T c.(1816-1818)atC>atT p.I606I PARP9_ENST00000471785.1_Silent_p.I606I|PARP9_ENST00000477522.2_Silent_p.I606I|PARP9_ENST00000360356.2_Silent_p.I641I|PARP9_ENST00000492382.1_Silent_p.I186I NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 641 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TCAGAAATATGATATTTTCTT 0.353000 47 55 0 0 0.003610 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668133 71668133 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:71668133G>A ENST00000567501.1 + 3 265 c.73G>A c.(73-75)Gat>Aat p.D25N MARVELD3_ENST00000268485.3_Silent_p.L211L|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron Q96A59 MALD3_HUMAN MARVEL domain containing 3 0 Arg-rich. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) TGAACTTGCTGATCCTGGCCT 0.527000 25 68 0 0 0.003330 0 0 NLRP5 126206 broad.mit.edu 37 19 56539295 56539295 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56539295C>T ENST00000390649.3 + 7 1696 c.1696C>T c.(1696-1698)Cac>Tac p.H566Y NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 566 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGCTCTGTTTCACATGAACAT 0.532000 8 28 0 0 0.004482 0 0 TBX18 9096 broad.mit.edu 37 6 85472279 85472279 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:85472279G>A ENST00000369663.5 - 2 817 c.480C>T c.(478-480)atC>atT p.I160I TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.I2I NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 160 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CCTTGGTGATGATCATCTCAG 0.647000 58 114 0 0 0.003610 0 0 MIR517B 574483 broad.mit.edu 37 19 54224381 54224381 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:54224381C>T ENST00000385102.1 + 0 52 NR_030205.1 GATCGTGCATCCCTTTAGAGT 0.413000 36 85 0 0 0.004878 0 0 GZMA 3001 broad.mit.edu 37 5 54405854 54405854 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:54405854T>G ENST00000274306.6 + 5 668 c.633T>G c.(631-633)gaT>gaG p.D211E NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 211 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TCCAGGGAGATTCTGGAAGCC 0.478000 21 12 0 0 0.001882 0 0 CDK18 5129 broad.mit.edu 37 1 205496927 205496927 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:205496927C>T ENST00000360066.2 + 9 1036 c.735C>T c.(733-735)ttC>ttT p.F245F CDK18_ENST00000429964.2_Silent_p.F245F|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.F275F NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 243 Protein kinase. 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 CCCAGATTTTCATGTTCCAGC 0.637000 23 44 0 0 0.001882 0 0 SCN10A 6336 broad.mit.edu 37 3 38739464 38739464 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:38739464C>T ENST00000449082.2 - 27 5246 c.5247G>A c.(5245-5247)gaG>gaA p.E1749E NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1749 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) GGTCAAACTTCTCCCAGGTCT 0.498000 26 67 0 0 0.005443 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974680 21974680 + Silent SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:21974680G>T ENST00000304494.5 - 1 417 c.147C>A c.(145-147)atC>atA p.I49I CDKN2A_ENST00000498124.1_Silent_p.I49I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Silent_p.I49I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.I49I NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 49 I -> S (in a biliary tract tumor).|I -> T. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Q50*(1)|p.0(1)|p.V28_V51del(1)|p.I49M(1)|p.I49I(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TACCCACCTGGATCGGCCTCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 151 114 4.44197e-71 4.98919e-71 0.003610 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651372 1651372 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:1651372C>T ENST00000399676.2 + 1 340 c.302C>T c.(301-303)tCc>tTc p.S101F NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 101 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTGTCTCCTGTGGGGTG 0.677000 81 108 0 0 0.003610 0 0 TLR9 54106 broad.mit.edu 37 3 52256018 52256018 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:52256018C>T ENST00000597542.1 - 9 3343 c.2386G>A c.(2386-2388)Gac>Aac p.D796N TLR9_ENST00000360658.2_Missense_Mutation_p.D772N|TLR9_ENST00000494383.1_Missense_Mutation_p.G925E Q9NR96 TLR9_HUMAN toll-like receptor 9 772 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AGCAGGAAGTCCATAAAGGCC 0.642000 18 32 0 0 0.007413 0 0 C12orf40 283461 broad.mit.edu 37 12 40078685 40078685 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:40078685G>A ENST00000324616.5 + 10 1457 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K C12orf40_ENST00000405531.3_Missense_Mutation_p.E435K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 435 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TATACCTTCGGAAGAATTGCA 0.368000 14 30 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9074883 9074883 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9074883G>A ENST00000397910.4 - 3 12766 c.12563C>T c.(12562-12564)cCt>cTt p.P4188L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4190 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 TGAGGTCACAGGTGGAGTAGA 0.502000 35 71 0 0 0.003271 0 0 GPS1 2873 broad.mit.edu 37 17 80010326 80010326 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:80010326G>A ENST00000392358.2 + 1 493 c.144G>A c.(142-144)ctG>ctA p.L48L GPS1_ENST00000306823.6_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000355130.2_Silent_p.L48L|GPS1_ENST00000320548.4_5'UTR NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 0 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CCTGTACGCTGCTCTACGAGG 0.701000 4 19 0 0 0.000248 0 0 DOCK1 1793 broad.mit.edu 37 10 128788767 128788767 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:128788767C>T ENST00000280333.6 + 6 482 c.373C>T c.(373-375)Ctt>Ttt p.L125F NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 125 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GATCTATGACCTTATTGAATG 0.398000 11 11 0 0 0.008291 0 0 WRN 7486 broad.mit.edu 37 8 31024698 31024698 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:31024698C>T ENST00000298139.5 + 34 4392 c.4143C>T c.(4141-4143)atC>atT p.I1381I RP11-363L24.3_ENST00000521252.1_RNA NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1381 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTGAAGAGATCTGTTCAAGTT 0.373000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 17 26 0 0 0.004007 0 0 CLCN6 1185 broad.mit.edu 37 1 11897474 11897474 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:11897474C>T ENST00000346436.6 + 20 2265 c.2213C>T c.(2212-2214)cCt>cTt p.P738L CLCN6_ENST00000376496.3_Missense_Mutation_p.P738L|CLCN6_ENST00000376487.3_Missense_Mutation_p.P716L|CLCN6_ENST00000312413.6_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 738 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CGGTTCCGCCCTCTGACCTTC 0.557000 24 57 0 0 0.003330 0 0 ZNF418 147686 broad.mit.edu 37 19 58438246 58438246 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:58438246A>C ENST00000396147.1 - 4 1594 c.1303T>G c.(1303-1305)Ttt>Gtt p.F435V ZNF418_ENST00000599852.1_Missense_Mutation_p.F350V|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.F435V|ZNF418_ENST00000425570.3_Missense_Mutation_p.F456V NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 435 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) TTTCGACTAAAAGATTTCCCA 0.463000 60 113 0 0 0.003610 0 0 CXCR1 3577 broad.mit.edu 37 2 219029056 219029056 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219029056C>T ENST00000295683.2 - 2 999 c.879G>A c.(877-879)ctG>ctA p.L293L NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 293 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGAGAAATCCCAGAATCTCAG 0.567000 29 43 0 0 0.008361 0 0 FAM47B 170062 broad.mit.edu 37 X 34961230 34961230 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:34961230G>A ENST00000329357.5 + 1 318 c.282G>A c.(280-282)aaG>aaA p.K94K NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 94 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AAAGCAGGAAGAAAAAGCTGC 0.527000 48 12 0 0 0.003610 0 0 TLE2 7089 broad.mit.edu 37 19 3005910 3005910 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:3005910G>A ENST00000262953.6 - 16 1819 c.1557C>T c.(1555-1557)atC>atT p.I519I TLE2_ENST00000443826.3_Silent_p.I397I|TLE2_ENST00000426948.2_Silent_p.I533I|TLE2_ENST00000591529.1_Silent_p.I533I|TLE2_ENST00000590536.1_Silent_p.I520I|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.I397I|TLE2_ENST00000447365.2_Silent_p.I186I NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 519 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) CACCGCCCACGATCAGACTCC 0.652000 32 42 0 0 0.002096 0 0 OTOP3 347741 broad.mit.edu 37 17 72943179 72943179 + Missense_Mutation SNP C C T rs138864901 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:72943179C>T ENST00000328801.4 + 6 1229 c.1229C>T c.(1228-1230)cCt>cTt p.P410L NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 410 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GTCAAGAACCCTACCCGCAGC 0.622000 13 47 0 0 0.001855 0 0 SGK2 10110 broad.mit.edu 37 20 42199298 42199298 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:42199298C>T ENST00000373100.1 + 8 862 c.402C>T c.(400-402)ccC>ccT p.P134P SGK2_ENST00000373077.1_Silent_p.P133P|SGK2_ENST00000341458.4_Silent_p.P194P|SGK2_ENST00000373092.3_Silent_p.P134P|SGK2_ENST00000426287.1_Silent_p.P160P|SGK2_ENST00000423407.3_Silent_p.P134P|SGK2_ENST00000485914.1_3'UTR Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 194 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCCTGGAGCCCCGGGCCAGGT 0.632000 19 65 0 0 0.003330 0 0 ROS1 6098 broad.mit.edu 37 6 117683872 117683872 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:117683872C>T ENST00000368508.3 - 21 3473 c.3275G>A c.(3274-3276)aGt>aAt p.S1092N GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1087N NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1092 Fibronectin type-III 5. 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) GTTTGTAATACTTTGATTGGA 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 26 43 0 0 0.005443 0 0 MED15 51586 broad.mit.edu 37 22 20929471 20929471 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:20929471C>T ENST00000263205.7 + 9 1293 c.1224C>T c.(1222-1224)tcC>tcT p.S408S MED15_ENST00000292733.7_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 408 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CCGCTGTGTCCGCCATCCCGT 0.627000 38 59 0 0 0.004878 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101794093 101794093 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:101794093G>A ENST00000506729.1 - 6 1295 c.1124C>T c.(1123-1125)gCt>gTt p.A375V SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A375V|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A313V|SLCO6A1_ENST00000379810.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 375 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) TACCCAAAGAGCAGCACATAA 0.313000 48 87 0 0 0.003610 0 0 OR2A7 401427 broad.mit.edu 37 7 143955995 143955995 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:143955995G>A ENST00000493325.1 - 1 820 c.727C>T c.(727-729)Cac>Tac p.H243Y RP4-798C17.6_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) ACACAGAGGTGGGAGAAGCAG 0.453000 52 273 0 0 0.003610 0 0 NUMA1 4926 broad.mit.edu 37 11 71721864 71721864 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:71721864G>A ENST00000393695.3 - 17 5018 c.4687C>T c.(4687-4689)Caa>Taa p.Q1563* NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q1549*|NUMA1_ENST00000351960.6_Nonsense_Mutation_p.Q427* NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1563 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TTGCTGGCTTGGTCAGAGTCA 0.567000 T RARA APL 105 614 0 0 0.003610 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628811 84628811 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:84628811C>T ENST00000284136.6 - 17 2322 c.2279G>A c.(2278-2280)cGa>cAa p.R760Q SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 760 Arg/Lys-rich (basic). cell differentiation|nervous system development extracellular region|membrane receptor activity p.R760Q(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TCTTCGATTTCGTTTCTTCTT 0.453000 15 38 0 0 0.003163 0 0 SPHK2 56848 broad.mit.edu 37 19 49129253 49129253 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:49129253C>T ENST00000443164.1 + 1 1036 c.331C>T c.(331-333)Ccg>Tcg p.P111S SPHK2_ENST00000599748.1_Missense_Mutation_p.P13S|SPHK2_ENST00000340932.3_Missense_Mutation_p.P13S|SPHK2_ENST00000598088.1_Missense_Mutation_p.P49S|SPHK2_ENST00000245222.4_Missense_Mutation_p.P49S|SPHK2_ENST00000599029.1_Missense_Mutation_p.P13S|SPHK2_ENST00000601712.1_Missense_Mutation_p.P13S|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000600537.1_Intron Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 49 Required for binding to sulfatide and phosphoinositides and for membrane localization. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGCCAGCACCCCGCTCCTCCA 0.697000 19 25 0 0 0.006122 0 0 CTDSP1 58190 broad.mit.edu 37 2 219266430 219266430 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219266430C>T ENST00000273062.2 + 2 547 c.211C>T c.(211-213)Cct>Tct p.P71S CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P71S NM_021198.2|NM_182642.2 NP_067021.1|NP_872580.1 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 71 protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 8 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCGCCATCCCTAAGGTGCG 0.642000 5 15 0 0 0.001168 0 0 GLDN 342035 broad.mit.edu 37 15 51687123 51687123 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:51687123G>A ENST00000335449.6 + 5 689 c.633G>A c.(631-633)ggG>ggA p.G211G GLDN_ENST00000396399.2_Silent_p.G87G NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 211 Collagen-like 2. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GCCCACCAGGGCAGAAGGGAG 0.577000 9 37 0 0 0.008291 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128139 117128139 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:117128139C>T ENST00000310357.3 - 3 750 c.729G>A c.(727-729)gaG>gaA p.E243E GPRC6A_ENST00000530250.1_Silent_p.E243E|GPRC6A_ENST00000368549.3_Silent_p.E243E NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 243 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTGGAAGAACCTCTTTGAAGG 0.388000 33 67 0 0 0.002836 0 0 INSC 387755 broad.mit.edu 37 11 15170714 15170714 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:15170714G>A ENST00000379554.3 + 2 181 c.135G>A c.(133-135)ggG>ggA p.G45G INSC_ENST00000379556.3_5'UTR|INSC_ENST00000528567.1_5'UTR|INSC_ENST00000424273.1_5'UTR|INSC_ENST00000530161.1_5'UTR|INSC_ENST00000525218.1_5'UTR NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 45 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 TGCAGATTGGGATCAACATGA 0.582000 9 40 0 0 0.006214 0 0 OR2T2 401992 broad.mit.edu 37 1 248616348 248616348 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248616348C>T ENST00000342927.3 + 1 272 c.250C>T c.(250-252)Cag>Tag p.Q84* NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CAAGATGCTCCAGGACCTCCT 0.537000 40 194 0 0 0.003610 0 0 CLEC16A 23274 broad.mit.edu 37 16 11097026 11097026 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:11097026G>A ENST00000409790.1 + 11 1397 c.1167G>A c.(1165-1167)aaG>aaA p.K389K CLEC16A_ENST00000409552.3_Silent_p.K387K NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 389 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GGGTGCAAAAGAGACCCAACT 0.547000 16 34 0 0 0.004990 0 0 LPIN1 23175 broad.mit.edu 37 2 11911506 11911506 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:11911506C>T ENST00000256720.2 + 4 390 c.297C>T c.(295-297)atC>atT p.I99I LPIN1_ENST00000396099.1_Silent_p.I105I|LPIN1_ENST00000396098.1_Silent_p.I105I|LPIN1_ENST00000425416.2_Silent_p.I105I|LPIN1_ENST00000449576.2_Silent_p.I148I NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 99 N-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) AGGAAGTTATCCCTATGCACC 0.507000 7 53 0 0 0.003080 0 0 ALK 238 broad.mit.edu 37 2 29754789 29754789 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:29754789C>T ENST00000389048.3 - 4 2052 c.1146G>A c.(1144-1146)ggG>ggA p.G382G ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 382 MAM 1. 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) ACCCATGCTTCCCTGGAGTGG 0.498000 """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 26 26 0 0 0.005443 0 0 TENM3 55714 broad.mit.edu 37 4 183675766 183675766 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:183675766C>T ENST00000511685.1 + 22 4369 c.4246C>T c.(4246-4248)Ctg>Ttg p.L1416L TENM3_ENST00000406950.2_Silent_p.L1416L|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.L1416M(1) CAGTGGGGTCCTGTACATTAC 0.502000 12 35 0 0 0.001368 0 0 MED14 9282 broad.mit.edu 37 X 40518793 40518793 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:40518793C>A ENST00000324817.1 - 27 3869 c.3751G>T c.(3751-3753)Gta>Tta p.V1251L NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1251 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTAAGAGCTACTCTGCATTTC 0.393000 24 14 2.79863e-10 3.11432e-10 0.004656 1 0 GP2 2813 broad.mit.edu 37 16 20322599 20322599 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:20322599G>A ENST00000302555.5 - 11 1700 c.1551C>T c.(1549-1551)ttC>ttT p.F517F GP2_ENST00000381362.4_Silent_p.F520F|GP2_ENST00000341642.5_Silent_p.F370F|GP2_ENST00000381360.5_Silent_p.F373F P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 520 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGGCCACCAGGAACCCTGAAA 0.502000 9 53 0 0 0.004482 0 0 KCNQ4 9132 broad.mit.edu 37 1 41303398 41303398 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:41303398G>A ENST00000347132.5 + 13 1889 c.1807G>A c.(1807-1809)Ggg>Agg p.G603R KCNQ4_ENST00000509682.2_Missense_Mutation_p.G549R|KCNQ4_ENST00000506017.1_3'UTR NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 603 A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GGGCGACAAGGGGCCCTCCGA 0.652000 13 21 0 0 0.003163 0 0 ATRX 546 broad.mit.edu 37 X 76931741 76931741 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:76931741G>T ENST00000373344.5 - 10 4003 c.3789C>A c.(3787-3789)gaC>gaA p.D1263E ATRX_ENST00000395603.3_Missense_Mutation_p.D1225E|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1263 Poly-Asp. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GATCATTGTCGTCATCATCAT 0.383000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 20 6 3.01185e-09 3.3446e-09 0.003954 1 0 CYP11B1 1584 broad.mit.edu 37 8 143956468 143956468 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:143956468C>T ENST00000292427.4 - 8 1335 c.1303G>A c.(1303-1305)Ggc>Agc p.G435S CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506S|CYP11B1_ENST00000517471.1_Intron NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 435 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AAGTTCCTGCCGGAGCCCCTG 0.632000 Familial Hyperaldosteronism type I 67 59 0 0 0.003610 0 0 PRKDC 5591 broad.mit.edu 37 8 48746891 48746891 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:48746891G>A ENST00000314191.2 - 60 8071 c.8015C>T c.(8014-8016)cCc>cTc p.P2672L PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P2672L NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2673 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTCAGATGAGGGACTGGTGTG 0.537000 Non-homologous end-joining 72 121 0 0 0.003610 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423353 107423353 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:107423353G>A ENST00000409382.3 - 6 1981 c.1371C>T c.(1369-1371)atC>atT p.I457I ST6GAL2_ENST00000361686.4_Silent_p.I457I NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 457 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity 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 GCACGGATGGGATATATTCAT 0.507000 11 31 0 0 0.000978 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280037 22280037 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:22280037G>A ENST00000390431.3 + 0 226 CAATGACAAGGGAAGGAACAA 0.463000 7 31 0 0 0.001984 0 0 WDR72 256764 broad.mit.edu 37 15 53901721 53901721 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:53901721G>A ENST00000396328.1 - 17 3180 c.2941C>T c.(2941-2943)Cag>Tag p.Q981* WDR72_ENST00000557913.1_Nonsense_Mutation_p.Q978*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.Q991*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.Q981* NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 981 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) TGCACAGACTGGTCTCTCCAA 0.398000 8 26 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9068160 9068160 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9068160G>A ENST00000397910.4 - 3 19489 c.19286C>T c.(19285-19287)aCc>aTc p.T6429I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6431 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 AGAAAGCATGGTGACAGATCT 0.512000 70 130 0 0 0.003610 0 0 ACTR1A 10121 broad.mit.edu 37 10 104248027 104248027 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:104248027G>A ENST00000369905.4 - 4 258 c.195C>T c.(193-195)caC>caT p.H65H ACTR1A_ENST00000487599.1_Silent_p.H65H|ACTR1A_ENST00000545684.1_5'UTR|ACTR1A_ENST00000446605.2_Silent_p.H18H NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 65 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) GCAGCCCTCGGTGCTCCTGGG 0.517000 10 51 0 0 0.008291 0 0 PLBD1 79887 broad.mit.edu 37 12 14689571 14689571 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:14689571G>A ENST00000240617.5 - 5 1284 c.632C>T c.(631-633)cCc>cTc p.P211L NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 211 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 GTTTTTTGTGGGAGAGAGTGA 0.448000 28 58 0 0 0.006320 0 0 GRIN1 2902 broad.mit.edu 37 9 140040184 140040184 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:140040184C>T ENST00000371561.3 + 3 1497 c.400C>T c.(400-402)Cac>Tac p.H134Y GRIN1_ENST00000350902.5_Missense_Mutation_p.H134Y|GRIN1_ENST00000371553.3_Missense_Mutation_p.H134Y|GRIN1_ENST00000371560.3_Missense_Mutation_p.H134Y|GRIN1_ENST00000371546.4_Missense_Mutation_p.H134Y|GRIN1_ENST00000371550.4_Missense_Mutation_p.H134Y|GRIN1_ENST00000371559.4_Missense_Mutation_p.H134Y|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Missense_Mutation_p.H134Y|GRIN1_ENST00000371555.4_Missense_Mutation_p.H134Y NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 134 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCAGAGCATCCACCTGAGCTT 0.692000 9 11 0 0 0.008291 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39156090 39156090 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:39156090A>C ENST00000391587.1 - 1 48 c.16T>G c.(16-18)Tct>Gct p.S6A NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 6 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) CAGCTGCGAGAGGCACAGCAA 0.547000 31 61 0 0 0.003271 0 0 FBN2 2201 broad.mit.edu 37 5 127664510 127664510 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:127664510A>G ENST00000508053.1 - 40 5323 c.4349T>C c.(4348-4350)gTt>gCt p.V1450A FBN2_ENST00000262464.4_Missense_Mutation_p.V1450A|FBN2_ENST00000508989.1_Missense_Mutation_p.V1417A|FBN2_ENST00000507835.1_Missense_Mutation_p.V300A P35556 FBN2_HUMAN fibrillin 2 1450 EGF-like 24; 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) ACACTCATCAACATCTGTGCA 0.423000 19 11 0 0 0.001523 0 0 ARMC4 55130 broad.mit.edu 37 10 28233336 28233336 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28233336C>T ENST00000305242.5 - 12 1650 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K ARMC4_ENST00000545014.1_Missense_Mutation_p.E45K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E212K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 520 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 TGACTGATTTCCTTCAGTATT 0.343000 12 28 0 0 0.002450 0 0 SHROOM1 134549 broad.mit.edu 37 5 132159717 132159717 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:132159717C>T ENST00000378679.3 - 7 2440 c.1636G>A c.(1636-1638)Gtt>Att p.V546I SHROOM1_ENST00000378676.1_Missense_Mutation_p.V477I|SHROOM1_ENST00000319854.3_Missense_Mutation_p.V546I NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 546 ASD2. actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGCTCCTGAACCAGCTCCTCG 0.597000 12 21 0 0 0.001855 0 0 CECR2 27443 broad.mit.edu 37 22 18028131 18028131 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:18028131C>T ENST00000262608.8 + 16 3091 c.3091C>T c.(3091-3093)Cta>Tta p.L1031L CECR2_ENST00000400585.2_Silent_p.L888L|CECR2_ENST00000400573.4_Silent_p.L1030L NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1072 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) CAGGGGCGCTCTATCCGAGAA 0.622000 8 26 0 0 0.004482 0 0 ZC3H13 23091 broad.mit.edu 37 13 46594614 46594614 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:46594614C>T ENST00000242848.4 - 5 766 c.418G>A c.(418-420)Gaa>Aaa p.E140K ZC3H13_ENST00000282007.3_Missense_Mutation_p.E140K Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 140 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCTACATTTTCTTCTTCACTT 0.338000 14 39 0 0 0.002450 0 0 ZNF99 7652 broad.mit.edu 37 19 22941862 22941862 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22941862T>A ENST00000397104.3 - 5 575 c.576A>T c.(574-576)aaA>aaT p.K192N ZNF99_ENST00000596209.1_Missense_Mutation_p.K283N 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) ATTTATATGGTTTCTTCCCAG 0.358000 15 26 0 0 0.003163 0 0 NLRP8 126205 broad.mit.edu 37 19 56490764 56490764 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56490764G>A ENST00000291971.3 + 9 2952 c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K NLRP8_ENST00000590542.1_Missense_Mutation_p.E942K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 961 cytoplasm ATP binding p.E961K(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCACAGGCTGGAAAACTGCCT 0.512000 42 63 0 0 0.002852 0 0 CAPN11 11131 broad.mit.edu 37 6 44141111 44141111 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:44141111T>C ENST00000398776.1 + 7 857 c.819T>C c.(817-819)ggT>ggC p.G273G CAPN11_ENST00000542245.1_Silent_p.G273G NM_007058.3 NP_008989.2 Q9UMQ6 CAN11_HUMAN calpain 11 273 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) CCCTCATGGgttgctccattg 0.592000 14 21 0 0 0.001855 0 0 SBSPON 157869 broad.mit.edu 37 8 74005100 74005100 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:74005100C>T ENST00000297354.6 - 1 407 c.203G>A c.(202-204)aGg>aAg p.R68K SBSPON_ENST00000519697.1_Intron NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 68 SMB. immune response extracellular region polysaccharide binding|scavenger receptor activity TGGGCACGCCCTGTCGTAGTC 0.687000 14 21 0 0 0.002450 0 0 PHACTR1 221692 broad.mit.edu 37 6 13228133 13228133 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:13228133G>A ENST00000379350.1 + 8 1201 c.1072G>A c.(1072-1074)Ggc>Agc p.G358S PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358S Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 358 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGGACCTATGGGCCTTCCAGA 0.483000 253 467 0 0 0.003610 0 0 INTS5 80789 broad.mit.edu 37 11 62415653 62415653 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:62415653G>A ENST00000330574.2 - 2 1951 c.1899C>T c.(1897-1899)ccC>ccT p.P633P NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 633 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 CAGAAGGAAAGGGACAAATGG 0.597000 12 43 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179629520 179629520 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179629520A>G ENST00000589042.1 - 42 9946 c.9722T>C c.(9721-9723)gTt>gCt p.V3241A TTN_ENST00000359218.5_Missense_Mutation_p.V3195A|TTN_ENST00000342175.6_Missense_Mutation_p.V3195A|TTN_ENST00000360870.5_Missense_Mutation_p.V3241A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V3241A|TTN_ENST00000342992.6_Missense_Mutation_p.V3241A|TTN_ENST00000460472.2_Missense_Mutation_p.V3195A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2971 Ig-like 19. 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) CTCCTGCAGAACTTGGGGCGG 0.483000 43 51 0 0 0.003214 0 0 STAC2 342667 broad.mit.edu 37 17 37369809 37369809 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:37369809G>A ENST00000333461.5 - 9 1313 c.944C>T c.(943-945)cCt>cTt p.P315L NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 315 SH3. intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CCGATCTCCAGGCCTGGGGAG 0.622000 21 51 0 0 0.003330 0 0 TM7SF3 51768 broad.mit.edu 37 12 27152555 27152555 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:27152555G>A ENST00000343028.4 - 3 526 c.301C>T c.(301-303)Ctt>Ttt p.L101F TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 101 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TCTGGTCTAAGGATGAAAACC 0.468000 27 44 0 0 0.004656 0 0 ETNPPL 64850 broad.mit.edu 37 4 109670491 109670491 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:109670491C>T ENST00000296486.3 - 8 984 c.830G>A c.(829-831)gGa>gAa p.G277E ETNPPL_ENST00000411864.2_Missense_Mutation_p.G271E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G237E|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G219E NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase CATCGGTTTTCCCATTGTGAC 0.468000 40 85 0 0 0.007835 0 0 DKK2 27123 broad.mit.edu 37 4 107846989 107846989 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:107846989C>T ENST00000285311.3 - 2 1045 c.340G>A c.(340-342)Ggc>Agc p.G114S DKK2_ENST00000513208.1_Missense_Mutation_p.G14S|DKK2_ENST00000510463.1_Missense_Mutation_p.G68S NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 114 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CAGCACATGCCATCTCGGTGG 0.493000 69 116 0 0 0.003610 0 0 CASS4 57091 broad.mit.edu 37 20 55027537 55027537 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:55027537G>A ENST00000371336.3 + 5 1506 c.1305G>A c.(1303-1305)ttG>ttA p.L435L CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.L435L NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 435 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AGCTCTCCTTGGACCTGGATG 0.572000 12 23 0 0 0.001368 0 0 ASCC3 10973 broad.mit.edu 37 6 101090562 101090562 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:101090562G>A ENST00000369162.2 - 24 4140 c.3796C>T c.(3796-3798)Caa>Taa p.Q1266* NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1266 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ATGTAGTATTGGGAAGGCAAA 0.373000 31 48 0 0 0.008361 0 0 IFRD2 7866 broad.mit.edu 37 3 50329948 50329948 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:50329948G>A ENST00000336089.4 - 3 309 c.310C>T c.(310-312)Cag>Tag p.Q104* IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 0 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCAGAGGCCTGAGCGCGCAGG 0.657000 11 23 0 0 0.002450 0 0 E2F7 144455 broad.mit.edu 37 12 77417955 77417955 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:77417955G>A ENST00000322886.7 - 13 2811 c.2576C>T c.(2575-2577)cCa>cTa p.P859L E2F7_ENST00000416496.2_Silent_p.S717S NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 859 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 GGGGGTCACTGGAACTGGTGA 0.458000 9 31 0 0 0.008291 0 0 A2M 2 broad.mit.edu 37 12 9264799 9264799 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:9264799G>A ENST00000318602.7 - 4 746 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 147 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GAGACAACACGAAATTTCACT 0.393000 19 42 0 0 0.001523 0 0 UBR2 23304 broad.mit.edu 37 6 42643851 42643851 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:42643851C>T ENST00000372901.1 + 39 4567 c.4309C>T c.(4309-4311)Ctt>Ttt p.L1437F UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372899.1_Missense_Mutation_p.L1437F Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1437 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AGGGATCAGCCTTGGCACTGG 0.468000 54 102 0 0 0.003610 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046567 42046567 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:42046567G>A ENST00000372584.1 - 3 4916 c.3902C>T c.(3901-3903)tCa>tTa p.S1301L HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1301L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1301L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1301L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1301 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) TGGAGGAGCTGATGTAGGTGC 0.617000 28 45 0 0 0.007291 0 0 BAGE2 85319 broad.mit.edu 37 21 11058213 11058213 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:11058213G>A ENST00000470054.1 - 0 434 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) AGATGTGACTGAAATCCTGAA 0.408000 13 44 0 0 0.001855 0 0 CDH12 1010 broad.mit.edu 37 5 21802333 21802333 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:21802333C>T ENST00000382254.1 - 10 2285 c.1199G>A c.(1198-1200)gGg>gAg p.G400E CDH12_ENST00000504376.2_Missense_Mutation_p.G400E|CDH12_ENST00000522262.1_Missense_Mutation_p.G360E|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 400 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AATGATGGTCCCTACCGGAGT 0.483000 HNSCC(59;0.17) 19 32 0 0 0.007413 0 0 SYN3 8224 broad.mit.edu 37 22 32909799 32909799 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:32909799G>A ENST00000358763.2 - 14 1865 c.1623C>T c.(1621-1623)tcC>tcT p.S541S SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Silent_p.S541S NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 541 E. 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 TGTTAGTCAGGGACTGAGATT 0.537000 23 59 0 0 0.004656 0 0 DNAH8 1769 broad.mit.edu 37 6 38802367 38802367 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:38802367G>A ENST00000359357.3 + 30 3918 c.3664G>A c.(3664-3666)Gtt>Att p.V1222I DNAH8_ENST00000449981.2_Missense_Mutation_p.V1439I|DNAH8_ENST00000441566.1_Missense_Mutation_p.V1222I 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 AGGACCTATGGTTCCAAATAT 0.308000 33 58 0 0 0.006999 0 0 DNAH5 1767 broad.mit.edu 37 5 13721235 13721235 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:13721235C>T ENST00000265104.4 - 71 12257 c.12153G>A c.(12151-12153)atG>atA p.M4051I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4051 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) GGTCTGAGCCCATAGACAGGA 0.498000 Kartagener syndrome 41 94 0 0 0.008740 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764713 140764713 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140764713C>T ENST00000518325.1 + 1 2247 c.2247C>T c.(2245-2247)ttC>ttT p.F749F PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGCTTTCCTGCAGACCT 0.607000 28 37 0 0 0.007291 0 0 RP11-287D1.3 0 broad.mit.edu 37 2 74590268 74590268 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:74590268G>A ENST00000451608.2 - 2 120 c.121C>T c.(121-123)Cct>Tct p.P41S DCTN1_ENST00000394003.3_Missense_Mutation_p.P1121S|DCTN1_ENST00000409567.3_Missense_Mutation_p.P1103S|DCTN1_ENST00000361874.3_Missense_Mutation_p.P1128S|DCTN1_ENST00000409438.1_Missense_Mutation_p.P989S|DCTN1_ENST00000409868.1_Missense_Mutation_p.P1106S|DCTN1_ENST00000407639.2_Missense_Mutation_p.P994S|DCTN1_ENST00000409240.1_Missense_Mutation_p.P1086S ACATGCAGAGGGGGCAGGGAT 0.532000 10 35 0 0 0.008291 0 0 PKD1L2 114780 broad.mit.edu 37 16 81134869 81134869 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:81134869G>A ENST00000534142.1 - 0 1626 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_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 GCAAATCTACGATCTCCCCTT 0.493000 7 29 0 0 0.001984 0 0 DMBT1 1755 broad.mit.edu 37 10 124339103 124339103 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:124339103C>T ENST00000368909.3 + 10 795 c.689C>T c.(688-690)tCc>tTc p.S230F DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S230F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S230F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S230F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S230F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S230F NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 230 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) GGATCTGAATCCAGTTTGGCC 0.532000 80 285 0 0 0.003610 0 0 VEGFC 7424 broad.mit.edu 37 4 177648941 177648941 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:177648941G>A ENST00000280193.2 - 3 958 c.543C>T c.(541-543)ctC>ctT p.L181L VEGFC_ENST00000507638.1_5'UTR NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 181 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) CCGTCTTGCTGAGGTAGCTCG 0.498000 32 52 0 0 0.002445 0 0 GJA8 2703 broad.mit.edu 37 1 147380929 147380929 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:147380929G>A ENST00000240986.4 + 2 900 c.847G>A c.(847-849)Gag>Aag p.E283K GJA8_ENST00000369235.1_Missense_Mutation_p.E283K NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 283 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) CCCCTTGACCGAGGTTGGGAT 0.547000 6 62 0 0 0.006214 0 0 TAF1L 138474 broad.mit.edu 37 9 32634687 32634687 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:32634687C>T ENST00000242310.4 - 1 980 c.891G>A c.(889-891)gtG>gtA p.V297V RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 297 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) CTGAGCATTCCACCTCCTGGA 0.498000 27 33 0 0 0.005443 0 0 CYLC2 1539 broad.mit.edu 37 9 105763885 105763885 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:105763885G>A ENST00000374798.3 + 2 113 c.43G>A c.(43-45)Gat>Aat p.D15N CYLC2_ENST00000487798.1_Missense_Mutation_p.D15N NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 15 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) TGGGCCATATGATAATTACAT 0.264000 9 5 0 0 0.000978 0 0 TENM3 55714 broad.mit.edu 37 4 183714840 183714840 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:183714840C>T ENST00000511685.1 + 26 7138 c.7015C>T c.(7015-7017)Cat>Tat p.H2339Y TENM3_ENST00000406950.2_Missense_Mutation_p.H2339Y teneurin transmembrane protein 3 AATTGGATTTCATGGTGGCCT 0.403000 45 64 0 0 0.003610 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233848 61233848 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61233848G>A ENST00000382768.1 + 7 882 c.882G>A c.(880-882)agG>agA p.R294R SERPINB12_ENST00000269491.1_Silent_p.R274R Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 274 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AGCTTGAAAGGAAAATCACCT 0.463000 48 78 0 0 0.003610 0 0 OR2M3 127062 broad.mit.edu 37 1 248366378 248366378 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248366378G>A ENST00000456743.1 + 1 47 c.9G>A c.(7-9)agG>agA p.R3R NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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) TCATGGCAAGGGAGAATTCGA 0.433000 70 129 0 0 0.003610 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34112119 34112119 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:34112119C>T ENST00000341394.4 + 14 1637 c.1448C>T c.(1447-1449)tCc>tTc p.S483F CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S483F|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S483F|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.S402F|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S483F NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 483 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) GCATCATCATCCCTTCCTGCT 0.413000 13 36 0 0 0.001368 0 0 DLL3 10683 broad.mit.edu 37 19 39991276 39991276 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:39991276G>A ENST00000205143.4 + 3 380 c.373G>A c.(373-375)Gaa>Aaa p.E125K DLL3_ENST00000356433.5_Missense_Mutation_p.E125K NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 125 Notch signaling pathway|skeletal system development integral to membrane Notch binding p.E125K(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTTCATCATCGAAACCTGGAG 0.537000 47 129 0 0 0.003610 0 0 CREBBP 1387 broad.mit.edu 37 16 3824617 3824617 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:3824617G>A ENST00000262367.5 - 12 3045 c.2236C>T c.(2236-2238)Cca>Tca p.P746S CREBBP_ENST00000382070.3_Missense_Mutation_p.P708S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 746 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGTTCATTGGGGAGGCTGCA 0.532000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 12 61 0 0 0.001368 0 0 ATXN2L 11273 broad.mit.edu 37 16 28842057 28842057 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:28842057C>T ENST00000336783.4 + 9 1323 c.1156C>T c.(1156-1158)Cat>Tat p.H386Y RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.H386Y|ATXN2L_ENST00000570200.1_Missense_Mutation_p.H386Y|ATXN2L_ENST00000395547.2_Missense_Mutation_p.H386Y|ATXN2L_ENST00000382686.4_Missense_Mutation_p.H386Y|ATXN2L_ENST00000340394.8_Missense_Mutation_p.H386Y|ATXN2L_ENST00000325215.6_Missense_Mutation_p.H386Y NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 386 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGGCCCTCACCATCTGGACAA 0.627000 18 17 0 0 0.006122 0 0 CCS 9973 broad.mit.edu 37 11 66373037 66373037 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:66373037C>T ENST00000533244.1 + 7 1086 c.645C>T c.(643-645)tcC>tcT p.S215S CCS_ENST00000310190.4_Silent_p.S196S NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 215 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 ATCCCTTATCCAAGATCACAG 0.602000 38 46 0 0 0.003610 0 0 LIN28A 79727 broad.mit.edu 37 1 26751920 26751920 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:26751920G>A ENST00000326279.6 + 3 469 c.355G>A c.(355-357)Ggg>Agg p.G119R LIN28A_ENST00000254231.4_Missense_Mutation_p.G119R NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 119 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 ATTCTGTATTGGGAGTGAGAG 0.512000 47 97 0 0 0.003610 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211351 50211351 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:50211351C>T ENST00000002829.3 + 3 722 c.238C>T c.(238-240)Ctg>Ttg p.L80L SEMA3F_ENST00000413852.1_Silent_p.L12L|SEMA3F_ENST00000434342.1_Silent_p.L80L NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 80 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CGTGCTGTCCCTGGACCTGCA 0.607000 23 40 0 0 0.002299 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47221138 47221138 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:47221138C>T ENST00000296861.2 - 4 1756 c.1363G>A c.(1363-1365)Gac>Aac p.D455N NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 455 Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CGCTCGTGGTCGGCTGTGTAC 0.597000 16 27 0 0 0.004990 0 0 SLC45A2 51151 broad.mit.edu 37 5 33947399 33947399 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:33947399C>T ENST00000382102.3 - 6 1294 c.1237G>A c.(1237-1239)Gga>Aga p.G413R SLC45A2_ENST00000342059.3_Missense_Mutation_p.G354R|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G413R NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 413 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 CCAATAAATCCCGTCCCCAGG 0.483000 45 111 0 0 0.003610 0 0 OXGR1 27199 broad.mit.edu 37 13 97639844 97639844 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:97639844G>A ENST00000298440.1 - 4 413 c.170C>T c.(169-171)aCt>aTt p.T57I OXGR1_ENST00000543457.1_Missense_Mutation_p.T57I NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 57 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) GAAAATGTAAGTGGATATCAC 0.458000 16 12 0 0 0.004007 0 0 KCND3 3752 broad.mit.edu 37 1 112525046 112525046 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:112525046C>T ENST00000369697.1 - 1 372 c.303G>A c.(301-303)ggG>ggA p.G101G KCND3_ENST00000302127.4_Silent_p.G101G|KCND3_ENST00000315987.2_Silent_p.G101G Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 101 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AGTGCAGCTTCCCCGTGCGGT 0.607000 25 16 0 0 0.006320 0 0 MYO5B 4645 broad.mit.edu 37 18 47566675 47566675 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:47566675A>T ENST00000285039.7 - 3 447 c.148T>A c.(148-150)Tac>Aac p.Y50N NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 50 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) TCAATTGGGTATTCCAGAATC 0.438000 96 139 0 0 0.003610 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512791 70512791 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70512791G>A ENST00000503640.1 - 1 627 c.572C>T c.(571-573)tCc>tTc p.S191F UGT2A1_ENST00000514019.1_Missense_Mutation_p.S191F|UGT2A1_ENST00000286604.4_Missense_Mutation_p.S191F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S191F NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 191 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 AGGAACATAGGAAGGAGGGTA 0.408000 21 30 0 0 0.002299 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42128408 42128408 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:42128408C>T ENST00000382448.4 + 5 601 c.592C>T c.(592-594)Cat>Tat p.H198Y JMJD7_ENST00000397299.4_Missense_Mutation_p.H198Y|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.H198Y|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H198Y|JMJD7_ENST00000408047.1_Missense_Mutation_p.H99Y|JMJD7-PLA2G4B_ENST00000476036.1_3'UTR NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 0 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 TTTCCTGTTCCATCCGCCCAG 0.617000 22 43 0 0 0.003330 0 0 PPFIA2 8499 broad.mit.edu 37 12 81751925 81751925 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:81751925C>T ENST00000550584.2 - 15 2004 c.1709G>A c.(1708-1710)aGa>aAa p.R570K PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R570K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R570K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R496K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R137K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R471K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R552K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R570K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R417K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R552K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 496 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 TTTAGTTGTTCTGTAATCAGA 0.408000 4 13 0 0 0.000602 0 0 IRX6 79190 broad.mit.edu 37 16 55363128 55363128 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:55363128C>T ENST00000290552.7 + 5 2570 c.1238C>T c.(1237-1239)cCc>cTc p.P413L RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 413 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 TTTGGAAACCCCAAGTTTGCC 0.617000 10 68 0 0 0.000978 0 0 TACR3 6870 broad.mit.edu 37 4 104640604 104640604 + Nonsense_Mutation SNP G G A rs149706734 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:104640604G>A ENST00000304883.2 - 1 369 c.229C>T c.(229-231)Cag>Tag p.Q77* NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 77 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) TGCACGAACTGGTTGGTGAGG 0.637000 27 56 0 0 0.006320 0 0 PROKR2 128674 broad.mit.edu 37 20 5283145 5283145 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:5283145G>A ENST00000546004.1 - 3 942 c.696C>T c.(694-696)ttC>ttT p.F232F PROKR2_ENST00000217270.3_Silent_p.F232F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 232 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CAGGGCCCACGAACTCGACAC 0.557000 HNSCC(71;0.22) 35 73 0 0 0.004289 0 0 MKX 283078 broad.mit.edu 37 10 28023641 28023641 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28023641C>T ENST00000375790.5 - 5 1014 c.582G>A c.(580-582)gaG>gaA p.E194E MKX_ENST00000419761.1_Silent_p.E194E Q8IYA7 MKX_HUMAN mohawk homeobox 194 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TGACCGAATTCTCACTTTTAA 0.488000 15 74 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9048771 9048771 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9048771A>G ENST00000397910.4 - 5 33063 c.32860T>C c.(32860-32862)Ttt>Ctt p.F10954L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10956 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 CCAAGAGAAAAAGTCAGAATT 0.483000 10 84 0 0 0.008291 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182498 57182498 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:57182498C>T ENST00000504228.1 + 6 2935 c.2830C>T c.(2830-2832)Ccg>Tcg p.P944S KIAA1211_ENST00000264229.6_Missense_Mutation_p.P944S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P937S Q6ZU35 K1211_HUMAN KIAA1211 944 Pro-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CAGCCAGACCCCGGCTCCGGA 0.652000 10 35 0 0 0.008291 0 0 OR56A4 120793 broad.mit.edu 37 11 6023726 6023726 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6023726G>A ENST00000330728.4 - 1 698 c.653C>T c.(652-654)tCt>tTt p.S218F NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCCTGGCAGAAAGCATGGG 0.463000 18 17 0 0 0.007413 0 0 GPR115 221393 broad.mit.edu 37 6 47678598 47678598 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:47678598C>T ENST00000283303.2 + 4 534 c.276C>T c.(274-276)agC>agT p.S92S GPR115_ENST00000327753.3_Silent_p.S92S|GPR115_ENST00000371220.1_Silent_p.S149S NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 92 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S92R(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CATGTACAAGCCTTTCTGTGG 0.393000 6 60 0 0 0.001984 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938244 116938244 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:116938244C>T ENST00000229554.5 + 1 595 c.458C>T c.(457-459)tCt>tTt p.S153F RSPH4A_ENST00000368580.4_Missense_Mutation_p.S153F|RSPH4A_ENST00000368581.4_Missense_Mutation_p.S153F NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 153 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TTTCAACAGTCTCAGCAACCC 0.458000 Kartagener syndrome 56 89 0 0 0.003610 0 0 PTPRT 11122 broad.mit.edu 37 20 41408905 41408905 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:41408905G>A ENST00000373198.3 - 4 756 c.521C>T c.(520-522)cCt>cTt p.P174L PTPRT_ENST00000356100.2_Missense_Mutation_p.P174L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P174L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P174L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P174L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P174L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P174L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 174 MAM. 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) GATGTAGCCAGGATGACCCTT 0.522000 27 61 0 0 0.008361 0 0 TEX15 56154 broad.mit.edu 37 8 30700975 30700975 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:30700975G>A ENST00000256246.2 - 1 5633 c.5559C>T c.(5557-5559)gaC>gaT p.D1853D NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1853 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TCCACAGATGGTCCTGTTTTC 0.343000 43 66 0 0 0.002522 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671435 112671435 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:112671435C>T ENST00000441065.2 + 3 837 c.525C>T c.(523-525)ttC>ttT p.F175F NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 175 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) ATGATTTATTCCCTGAGCATG 0.557000 48 55 0 0 0.003610 0 0 NRXN1 9378 broad.mit.edu 37 2 50724786 50724786 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:50724786C>T ENST00000404971.1 - 15 4023 c.2684G>A c.(2683-2685)cGa>cAa p.R895Q NRXN1_ENST00000405472.3_Missense_Mutation_p.R847Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.R855Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.R847Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.R855Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.R855Q NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 855 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAGATACCGTCGTTCTGTGAT 0.403000 14 41 0 0 0.003163 0 0 DPP10 57628 broad.mit.edu 37 2 116066836 116066836 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:116066836C>T ENST00000410059.1 + 2 562 c.82C>T c.(82-84)Cca>Tca p.P28S DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.P21S|DPP10_ENST00000393147.2_Missense_Mutation_p.P32S NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 28 Mediates effects on KCND2. 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 TAACAGCCCTCCACAGAGAAA 0.393000 9 29 0 0 0.000978 0 0 DPP6 1804 broad.mit.edu 37 7 154667731 154667731 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:154667731T>C ENST00000404039.1 + 20 2394 c.1807T>C c.(1807-1809)Ttc>Ctc p.F603L DPP6_ENST00000427557.1_Missense_Mutation_p.F560L|DPP6_ENST00000377770.3_Missense_Mutation_p.F667L|DPP6_ENST00000332007.3_Missense_Mutation_p.F605L NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 667 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TGGCAGCGGCTTCCAAGGGAC 0.657000 14 17 0 0 0.001855 0 0 SLC4A4 8671 broad.mit.edu 37 4 72400022 72400022 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:72400022C>T ENST00000340595.3 + 15 2423 c.2227C>T c.(2227-2229)Ccg>Tcg p.P743S SLC4A4_ENST00000351898.6_Missense_Mutation_p.P787S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P787S|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P787S NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 787 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) TGCTGCTATCCCGGCTTTGTT 0.433000 6 53 0 0 0.001168 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396091 38396091 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:38396091C>T ENST00000377698.3 + 2 499 c.346C>T c.(346-348)Cga>Tga p.R116* NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 116 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GGAGCGGGATCGAGTCTACTT 0.607000 21 70 0 0 0.002780 0 0 LRP1B 53353 broad.mit.edu 37 2 141806759 141806759 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:141806759T>C ENST00000389484.3 - 11 2556 c.1585A>G c.(1585-1587)Aaa>Gaa p.K529E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 529 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) GGGCGTCCTTTCCCATAAAAG 0.403000 TSP Lung(27;0.18) 44 47 0 0 0.002222 0 0 CDH6 1004 broad.mit.edu 37 5 31322998 31322998 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:31322998C>T ENST00000265071.2 + 12 2221 c.1956C>T c.(1954-1956)atC>atT p.I652I NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 652 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 AAGAGGACATCAGAGATAACA 0.483000 27 41 0 0 0.006320 0 0 SLC4A5 57835 broad.mit.edu 37 2 74466523 74466523 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:74466523C>T ENST00000394019.2 - 21 2655 c.2258G>A c.(2257-2259)gGg>gAg p.G753E SLC4A5_ENST00000358683.4_Missense_Mutation_p.G689E|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G689E|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G753E|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G753E|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G753E|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G753E|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G753E NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 753 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGAGTATGTCCCAAAGAAAAG 0.527000 13 36 0 0 0.003163 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701654 56701654 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56701654G>A ENST00000586855.2 - 5 1343 c.1030C>T c.(1030-1032)Cca>Tca p.P344S ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.P344S A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 344 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGGCCATCTGGGTGACTGACC 0.547000 50 73 0 0 0.003610 0 0 SELP 6403 broad.mit.edu 37 1 169586609 169586609 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:169586609G>A ENST00000263686.6 - 3 175 c.138C>T c.(136-138)taC>taT p.Y46Y SELP_ENST00000367788.2_Silent_p.Y46Y|SELP_ENST00000367794.2_Silent_p.Y46Y|SELP_ENST00000367793.2_Silent_p.Y46Y|SELP_ENST00000367792.2_Silent_p.Y46Y|SELP_ENST00000367791.2_Silent_p.Y46Y|SELP_ENST00000458599.2_Silent_p.Y46Y|SELP_ENST00000367786.2_Silent_p.Y46Y NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 46 platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CTTTTGTGCTGTAATGATAAG 0.418000 32 70 0 0 0.003755 0 0 LMOD1 25802 broad.mit.edu 37 1 201869571 201869571 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:201869571C>T ENST00000367288.4 - 2 816 c.570G>A c.(568-570)gaG>gaA p.E190E NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 190 8 X approximate tandem repeats. muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 tccctttcttctcctcttcct 0.537000 4 10 0 0 0.000248 0 0 TNXB 7148 broad.mit.edu 37 6 32052343 32052343 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:32052343C>T ENST00000375244.3 - 8 3493 c.3292G>A c.(3292-3294)Gac>Aac p.D1098N TNXB_ENST00000375247.2_Missense_Mutation_p.D1098N P22105 TENX_HUMAN tenascin XB 1185 Fibronectin type-III 3. 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 CCGTCCCTGTCTTTGTACTGG 0.627000 238 414 0 0 0.003610 0 0 OVCA2 124641 broad.mit.edu 37 17 1945386 1945386 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:1945386C>T ENST00000572195.1 + 1 60 c.45C>T c.(43-45)ttC>ttT p.F15F DPH1_ENST00000263083.6_Intron|DPH1_ENST00000570477.1_Intron NM_080822.2 NP_543012.1 Q8WZ82 OVCA2_HUMAN ovarian tumor suppressor candidate 2 15 response to retinoic acid cytoplasm hydrolase activity TGGCGGGCTTCCGGCAGAGCG 0.731000 OREG0024078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 4 0 0 0.001984 0 0 ZNF174 7727 broad.mit.edu 37 16 3458558 3458558 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:3458558C>T ENST00000268655.4 + 3 1448 c.863C>T c.(862-864)cCc>cTc p.P288L LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.P288L NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 288 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 ATCAGCAGCCCCCTAAAAAGC 0.522000 21 50 0 0 0.001882 0 0 HMSD 284293 broad.mit.edu 37 18 61620722 61620722 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61620722C>T ENST00000408945.3 + 2 235 c.33C>T c.(31-33)ttC>ttT p.F11F HMSD_ENST00000481726.1_Intron NM_001123366.1 NP_001116838.1 A8MTL9 HMSD_HUMAN histocompatibility (minor) serpin domain containing 11 extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(2)|lung(2)|stomach(1) 6 CCATGGTTTTCATGGGGGCAA 0.413000 12 11 0 0 0.002450 0 0 CFH 3075 broad.mit.edu 37 1 196695904 196695904 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:196695904C>T ENST00000367429.4 + 14 2310 c.2070C>T c.(2068-2070)acC>acT p.T690T NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 690 Sushi 12. 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 AGGAGAGTACCTGTGGAGATA 0.338000 19 38 0 0 0.001523 0 0 ANO1 55107 broad.mit.edu 37 11 69972234 69972234 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:69972234C>T ENST00000355303.5 + 10 1335 c.1030C>T c.(1030-1032)Cct>Tct p.P344S ANO1_ENST00000530676.1_Missense_Mutation_p.P228S|ANO1_ENST00000398543.2_Missense_Mutation_p.P228S|ANO1_ENST00000316296.5_Missense_Mutation_p.P316S|ANO1_ENST00000531349.1_Missense_Mutation_p.P79S|ANO1_ENST00000538023.1_Missense_Mutation_p.P344S NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 344 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GATGCTCATCCCTGCCTCCAT 0.592000 47 34 0 0 0.003610 0 0 NBEA 26960 broad.mit.edu 37 13 35517126 35517126 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:35517126C>T ENST00000400445.3 + 1 703 c.169C>T c.(169-171)Ccc>Tcc p.P57S NBEA_ENST00000379939.2_Missense_Mutation_p.P57S|NBEA_ENST00000540320.1_Missense_Mutation_p.P57S|NBEA_ENST00000310336.4_Missense_Mutation_p.P57S NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 57 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGTGATGCTCCCCGCGGGGAT 0.677000 19 42 0 0 0.006122 0 0 SYS1 90196 broad.mit.edu 37 20 43995745 43995745 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:43995745C>T ENST00000243918.5 + 4 752 c.461C>T c.(460-462)tCc>tTc p.S154F SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_Missense_Mutation_p.S133F|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.S154F NM_033542.3 NP_291020.1 Q8N2H4 SYS1_HUMAN SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) 154 protein transport Golgi membrane|integral to membrane cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1) 7 Myeloproliferative disorder(115;0.0122) GCCCCTAAATCCAATGTCTAG 0.567000 26 57 0 0 0.005443 0 0 OR4D9 390199 broad.mit.edu 37 11 59283314 59283314 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:59283314G>A ENST00000329328.3 + 1 929 c.929G>A c.(928-930)aGg>aAg p.R310K NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CAATCAGAAAGGATTTTAATT 0.378000 10 27 0 0 0.008291 0 0 SLAIN2 57606 broad.mit.edu 37 4 48381736 48381736 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:48381736C>T ENST00000264313.6 + 4 1151 c.733C>T c.(733-735)Cca>Tca p.P245S SLAIN2_ENST00000512093.1_Missense_Mutation_p.P52S|SLAIN2_ENST00000506375.1_3'UTR NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 245 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CAGAAATCCTCCACTCAGTCC 0.323000 26 56 0 0 0.003954 0 0 MS4A7 58475 broad.mit.edu 37 11 60150751 60150751 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:60150751C>T ENST00000358246.1 + 2 330 c.137C>T c.(136-138)aCc>aTc p.T46I MS4A7_ENST00000300184.3_Missense_Mutation_p.T46I|MS4A7_ENST00000530234.2_Missense_Mutation_p.T46I|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.T46I NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 46 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 ACAGAAACCACCGTTCTTGGG 0.438000 27 37 0 0 0.007291 0 0 FAM117B 150864 broad.mit.edu 37 2 203560658 203560658 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:203560658C>T ENST00000392238.2 + 2 656 c.656C>T c.(655-657)tCc>tTc p.S219F FAM117B_ENST00000303116.6_5'UTR Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 219 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 CGACGCACTTCCTCCCTGGAT 0.468000 126 135 0 0 0.003610 0 0 GPR4 2828 broad.mit.edu 37 19 46094627 46094627 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:46094627G>A ENST00000323040.4 - 2 1442 c.498C>T c.(496-498)acC>acT p.T166T OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 166 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CAAAGCAGAAGGTGTGGTTGT 0.637000 39 91 0 0 0.003214 0 0 GABRB2 2561 broad.mit.edu 37 5 160838060 160838060 + Silent SNP G G A rs148320584 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:160838060G>A ENST00000274547.2 - 6 679 c.462C>T c.(460-462)atC>atT p.I154I GABRB2_ENST00000353437.6_Silent_p.I154I|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000520240.1_Silent_p.I154I|GABRB2_ENST00000517901.1_Silent_p.I91I|GABRB2_ENST00000393959.1_Silent_p.I154I NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 154 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) CTGTGGTTGTGATTCTAGAAG 0.428000 39 37 0 0 0.002222 0 0 ALG1L 200810 broad.mit.edu 37 3 125648252 125648252 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:125648252C>T ENST00000340333.3 - 6 670 c.507G>A c.(505-507)cgG>cgA p.R169R FAM86JP_ENST00000485843.1_RNA NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 169 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 AGCAGGGGTCCCGGGGTTTTA 0.597000 17 14 0 0 0.001882 0 0 PTPRB 5787 broad.mit.edu 37 12 70956662 70956662 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:70956662C>T ENST00000334414.6 - 16 4174 c.4130G>A c.(4129-4131)gGg>gAg p.G1377E PTPRB_ENST00000538708.1_Missense_Mutation_p.G1069E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1069E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1069E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1159E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1376E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1289E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1159 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) AGACAGCTCCCCACTGTGAGT 0.463000 28 60 0 0 0.007291 0 0 FAM135B 51059 broad.mit.edu 37 8 139255192 139255192 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:139255192G>A ENST00000395297.1 - 7 832 c.662C>T c.(661-663)tCc>tTc p.S221F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 221 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) TACCTCTGAGGAAGTCGGCTT 0.473000 HNSCC(54;0.14) 19 63 0 0 0.003954 0 0 HRNR 388697 broad.mit.edu 37 1 152185557 152185557 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:152185557G>A ENST00000368801.2 - 3 8623 c.8548C>T c.(8548-8550)Cag>Tag p.Q2850* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2850 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTATTCACTGATAAAAGTAG 0.348000 23 25 0 0 0.001882 0 0 SATB2 23314 broad.mit.edu 37 2 200137114 200137114 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:200137114C>T ENST00000443023.1 - 10 3310 c.1845G>A c.(1843-1845)ggG>ggA p.G615G SATB2_ENST00000260926.5_Silent_p.G674G|SATB2_ENST00000428695.1_Silent_p.G556G|SATB2_ENST00000457245.1_Silent_p.G674G|SATB2_ENST00000417098.1_Silent_p.G674G Q9UPW6 SATB2_HUMAN SATB homeobox 2 674 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTTTCAGCTTCCCGTGGTGCT 0.577000 65 51 0 0 0.003610 0 0 LAMA5 3911 broad.mit.edu 37 20 60903975 60903975 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:60903975G>A ENST00000252999.3 - 34 4438 c.4372C>T c.(4372-4374)Ccc>Tcc p.P1458S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1458 Laminin EGF-like 12. 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) GCATGGCAGGGACACTGGCCC 0.637000 29 48 0 0 0.008361 0 0 ADAM19 8728 broad.mit.edu 37 5 156908821 156908821 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:156908821G>A ENST00000257527.4 - 22 2759 c.2681C>T c.(2680-2682)cCt>cTt p.P894L ADAM19_ENST00000394020.1_Missense_Mutation_p.P896L|ADAM19_ENST00000517905.1_Missense_Mutation_p.P894L|ADAM19_ENST00000430702.2_Intron NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 894 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) TGCTGCCAGAGGCCGGGACTG 0.662000 5 3 0 0 0.001168 0 0 ZNF778 197320 broad.mit.edu 37 16 89293871 89293871 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:89293871C>T ENST00000433976.2 + 6 1423 c.1091C>T c.(1090-1092)cCc>cTc p.P364L ZNF778_ENST00000306502.6_Missense_Mutation_p.P322L|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) AGGGAGAAGCCCTTTGCATGT 0.433000 50 57 0 0 0.003610 0 0 CPS1 1373 broad.mit.edu 37 2 211471586 211471586 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:211471586C>T ENST00000233072.5 + 18 2309 c.2113C>T c.(2113-2115)Cct>Tct p.P705S CPS1_ENST00000451903.2_Missense_Mutation_p.P254S|CPS1_ENST00000430249.2_Missense_Mutation_p.P711S NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 705 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGCCCTTCATCCTACCTCAAT 0.468000 8 43 0 0 0.003080 0 0 MUC17 140453 broad.mit.edu 37 7 100679768 100679768 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:100679768C>T ENST00000306151.4 + 3 5135 c.5071C>T c.(5071-5073)Cct>Tct p.P1691S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1691 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) AGGAAGAACTCCTTTAACAAG 0.478000 85 152 0 0 0.003610 0 0 PAQR5 54852 broad.mit.edu 37 15 69692348 69692348 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:69692348A>G ENST00000340965.3 + 8 1313 c.645A>G c.(643-645)gaA>gaG p.E215E PAQR5_ENST00000395407.2_Silent_p.E215E|RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Silent_p.E215E|RP11-253M7.1_ENST00000560539.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 215 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 CACAAAATGAAGCCACCTCGT 0.532000 32 69 0 0 0.003271 0 0 SCAF11 9169 broad.mit.edu 37 12 46320946 46320946 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:46320946G>A ENST00000465950.1 - 1 2802 c.1593C>T c.(1591-1593)tcC>tcT p.S531S SCAF11_ENST00000369367.3_Silent_p.S846S|SCAF11_ENST00000419565.2_Silent_p.S846S|SCAF11_ENST00000549162.1_Silent_p.S654S Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 846 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 ACTGAGAACGGGATTTTTTCC 0.473000 50 122 0 0 0.003610 0 0 DCLK3 85443 broad.mit.edu 37 3 36780021 36780021 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:36780021A>G ENST00000416516.2 - 2 620 c.130T>C c.(130-132)Ttt>Ctt p.F44L NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 44 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GCCTTGCTAAACAGCCTGCTC 0.612000 35 72 0 0 0.003755 0 0 GGT7 2686 broad.mit.edu 37 20 33442403 33442403 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:33442403G>A ENST00000336431.5 - 10 1294 c.1250C>T c.(1249-1251)gCc>gTc p.A417V NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 417 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GCTGGCCAGGGCTAATGCAAT 0.552000 9 15 0 0 0.004482 0 0 ABCC12 94160 broad.mit.edu 37 16 48119552 48119552 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:48119552C>T ENST00000311303.3 - 27 4125 c.3780G>A c.(3778-3780)ggG>ggA p.G1260G ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1260 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GCTGACGTTCCCCTACTGAGA 0.413000 37 45 0 0 0.006230 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756910 56756910 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56756910C>T ENST00000326855.2 + 1 564 c.522C>T c.(520-522)atC>atT p.I174I NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CCAATAGCATCAATCACTTTT 0.413000 82 97 0 0 0.003610 0 0 MEGF8 1954 broad.mit.edu 37 19 42880019 42880019 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:42880019C>T ENST00000334370.4 + 41 8064 c.7429C>T c.(7429-7431)Cgg>Tgg p.R2477W MEGF8_ENST00000251268.6_Missense_Mutation_p.R2544W|MEGF8_ENST00000378073.4_Missense_Mutation_p.R138W NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2544 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) TGGTGGGCCCCGGGGGGCTGG 0.701000 12 10 0 0 0.001368 0 0 PASK 23178 broad.mit.edu 37 2 242072304 242072304 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:242072304G>A ENST00000403638.3 - 9 1539 c.1448C>T c.(1447-1449)cCt>cTt p.P483L PASK_ENST00000544142.1_Missense_Mutation_p.P297L|PASK_ENST00000358649.4_Missense_Mutation_p.P483L|PASK_ENST00000405260.1_Missense_Mutation_p.P483L|PASK_ENST00000234040.4_Missense_Mutation_p.P483L|PASK_ENST00000539818.1_Missense_Mutation_p.P267L NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 483 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) AGCAGGCTGAGGTGAGAGGCA 0.527000 11 36 0 0 0.000978 0 0 ZNF595 152687 broad.mit.edu 37 4 59432 59432 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:59432G>A ENST00000509152.2 + 2 298 c.113G>A c.(112-114)aGg>aAg p.R38K ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.R38K zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GAGAACTACAGGAACCTGGTC 0.438000 37 481 0 0 0.002852 0 0 CHIAP2 149620 broad.mit.edu 37 1 111825603 111825603 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:111825603G>A ENST00000369743.4 + 0 1148 NR_003928.1 TCCTGTACAGGAAATGCGTGA 0.448000 3 1 0 0 0.004672 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74913986 74913986 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:74913986C>T ENST00000289575.5 + 12 2199 c.1804C>T c.(1804-1806)Cag>Tag p.Q602* SLCO2B1_ENST00000531756.1_Nonsense_Mutation_p.Q347*|SLCO2B1_ENST00000532236.1_Nonsense_Mutation_p.Q486*|SLCO2B1_ENST00000341411.4_Nonsense_Mutation_p.Q375*|SLCO2B1_ENST00000525650.1_Nonsense_Mutation_p.Q458*|SLCO2B1_ENST00000428359.2_Nonsense_Mutation_p.Q580*|SLCO2B1_ENST00000454962.2_Nonsense_Mutation_p.Q375* NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 602 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) TGTGGGCATCCAGTTCATGTT 0.547000 48 49 0 0 0.003610 0 0 MAP4 4134 broad.mit.edu 37 3 47917353 47917353 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:47917353G>A ENST00000426837.2 - 12 5666 c.5579C>T c.(5578-5580)tCg>tTg p.S1860L MAP4_ENST00000383737.4_Missense_Mutation_p.S443L|MAP4_ENST00000395734.3_Missense_Mutation_p.S715L|MAP4_ENST00000360240.6_Missense_Mutation_p.S715L|MAP4_ENST00000462206.1_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.S450L|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000420772.2_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 715 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TTTGGCTTTCGATGTTGAAGT 0.423000 64 173 0 0 0.003610 0 0 CDCP2 200008 broad.mit.edu 37 1 54605546 54605546 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:54605546C>A ENST00000371330.1 - 4 1844 c.997G>T c.(997-999)Ggg>Tgg p.G333W NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 333 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CACCAATTCCCCAGCAGGGGT 0.637000 20 24 8.00594e-06 8.85354e-06 0.007413 1 0 CYP4F12 66002 broad.mit.edu 37 19 15791299 15791299 + Silent SNP G G A rs141478890 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:15791299G>A ENST00000550308.1 + 5 875 c.495G>A c.(493-495)acG>acA p.T165T CYP4F12_ENST00000324632.9_Silent_p.T165T NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 p.T165T(1) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCTATATAACGATCTTCAACA 0.537000 18 15 0 0 0.001882 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911331 230911331 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:230911331C>T ENST00000295190.4 - 4 969 c.511G>A c.(511-513)Ggt>Agt p.G171S NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 171 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) AGGAACGTACCGAATCCGGTC 0.597000 29 38 0 0 0.003271 0 0 TNNT3 7140 broad.mit.edu 37 11 1950358 1950358 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:1950358G>A ENST00000278317.6 + 7 310 c.91G>A c.(91-93)Gag>Aag p.E31K TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000397301.1_Missense_Mutation_p.E42K|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.E33K|TNNT3_ENST00000446240.1_Intron NM_006757.3 NP_006748.1 P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 42 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGACACCGCAGAGGAGGACGC 0.662000 43 70 0 0 0.003610 0 0 SLC15A3 51296 broad.mit.edu 37 11 60714282 60714282 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:60714282G>A ENST00000227880.3 - 2 803 c.570C>T c.(568-570)ctC>ctT p.L190L NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 190 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 CGTCGCGGCCGAGATCCATCA 0.587000 51 59 0 0 0.003610 0 0 ANKS6 203286 broad.mit.edu 37 9 101542503 101542503 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:101542503G>A ENST00000353234.4 - 6 1383 c.1336C>T c.(1336-1338)Cca>Tca p.P446S ANKS6_ENST00000375018.1_Missense_Mutation_p.P446S|ANKS6_ENST00000540940.1_Missense_Mutation_p.P251S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P145S Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 446 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GGCAGCACTGGGATGCTCCAG 0.622000 20 18 0 0 0.003330 0 0 ZW10 9183 broad.mit.edu 37 11 113631062 113631062 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:113631062G>A ENST00000200135.3 - 5 593 c.449C>T c.(448-450)tCc>tTc p.S150F NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 150 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) GCATTTTCTGGATTTTAATAA 0.353000 32 21 0 0 0.002836 0 0 ATP10B 23120 broad.mit.edu 37 5 160063273 160063273 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:160063273G>A ENST00000327245.5 - 11 1890 c.1044C>T c.(1042-1044)ttC>ttT p.F348F CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 348 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 NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGGCACATCGAAGGGAGGGT 0.522000 30 37 0 0 0.008361 0 0 ERBB4 2066 broad.mit.edu 37 2 212537981 212537981 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:212537981C>T ENST00000342788.4 - 14 1934 c.1622_splice c.e14-1 p.E542_splice ERBB4_ENST00000402597.1_Splice_Site_p.E542_splice|ERBB4_ENST00000436443.1_Splice_Site_p.E542_splice NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 542 Cys-rich. 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 p.E542K(1) 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) TCCCGAAATTCACTGTGAAAA 0.463000 TSP Lung(8;0.080) 13 42 0 0 0.001855 0 0 UBFD1 56061 broad.mit.edu 37 16 23581893 23581893 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:23581893G>A ENST00000395878.3 + 7 1293 c.912G>A c.(910-912)ggG>ggA p.G304G UBFD1_ENST00000567212.1_Silent_p.G295G|UBFD1_ENST00000219638.4_Silent_p.G528G NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 304 endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) CTGTGCTGGGGAAATGGCAGT 0.522000 15 78 0 0 0.006122 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23069692 23069692 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:23069692G>A ENST00000221132.3 - 2 404 c.340C>T c.(340-342)Cat>Tat p.H114Y NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 114 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) GATTGATCATGAAGTTTGATG 0.473000 14 86 0 0 0.002450 0 0 ZNF880 400713 broad.mit.edu 37 19 52887533 52887533 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52887533C>T ENST00000422689.2 + 4 715 c.700C>T c.(700-702)Cat>Tat p.H234Y NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 234 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 TCAAAGAATTCATACTGGAGA 0.388000 8 11 0 0 0.006214 0 0 NTF3 4908 broad.mit.edu 37 12 5603651 5603651 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:5603651G>A ENST00000423158.3 + 2 522 c.310G>A c.(310-312)Gaa>Aaa p.E104K NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.E91K NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 91 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AATGGACACCGAACTGCTGCG 0.617000 29 50 0 0 0.001786 0 0 MYH1 4619 broad.mit.edu 37 17 10408589 10408589 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10408589G>A ENST00000226207.5 - 21 2420 c.2326C>T c.(2326-2328)Ctc>Ttc p.L776F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 776 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 TCCTCTAGGAGCCCCAGAAGA 0.473000 31 26 0 0 0.002445 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189611 167189611 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:167189611G>A ENST00000476257.1 - 3 310 c.12C>T c.(10-12)atC>atT p.I4I SERPINI2_ENST00000461846.1_Silent_p.I4I|SERPINI2_ENST00000264677.4_Silent_p.I4I|SERPINI2_ENST00000471111.1_Silent_p.I4I|SERPINI2_ENST00000465031.1_5'UTR O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 4 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TCCACAAGAAGATTGTGTCCA 0.343000 55 88 0 0 0.003610 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113611 117113611 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:117113611G>A ENST00000310357.3 - 6 2496 c.2475C>T c.(2473-2475)atC>atT p.I825I GPRC6A_ENST00000530250.1_Silent_p.I650I|GPRC6A_ENST00000368549.3_Silent_p.I754I NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 825 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGCAATACAGGATTCCATAGT 0.358000 19 37 0 0 0.006122 0 0 PLCG2 5336 broad.mit.edu 37 16 81971475 81971475 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:81971475C>T ENST00000359376.3 + 28 3379 c.3165C>T c.(3163-3165)tcC>tcT p.S1055S NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1055 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CACCCGAGTCCCAGAGGAAGA 0.592000 20 25 0 0 0.008871 0 0 HSPB1 3315 broad.mit.edu 37 7 75933416 75933416 + Missense_Mutation SNP C C T rs104894020 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:75933416C>T ENST00000248553.6 + 3 713 c.544C>T c.(544-546)Cca>Tca p.P182S HSPB1_ENST00000429938.1_Missense_Mutation_p.P14S NM_001540.3 NP_001531.1 P04792 HSPB1_HUMAN heat shock 27kDa protein 1 182 Interaction with TGFB1I1 (By similarity). P -> L (in HMN2B). anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus cell surface|cytosol|nucleus|proteasome complex|spindle identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding large_intestine(1)|lung(3) 4 GATCACCATCCCAGTCACCTT 0.637000 5 12 0 0 0.003080 0 0 VWF 7450 broad.mit.edu 37 12 6062751 6062751 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:6062751C>T ENST00000261405.5 - 48 8151 c.7897G>A c.(7897-7899)Gaa>Aaa p.E2633K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2633 VWFC 3. 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) TTATTTTCTTCCTTGTAACCC 0.463000 31 77 0 0 0.002836 0 0 CLPTM1 1209 broad.mit.edu 37 19 45490560 45490560 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:45490560C>T ENST00000541297.2 + 8 1340 c.875C>T c.(874-876)tCc>tTc p.S292F CLPTM1_ENST00000546079.1_Missense_Mutation_p.S204F|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S306F|CLPTM1_ENST00000589158.1_3'UTR O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 306 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CTCCGCGTCTCCTTCTGCCCA 0.567000 69 335 0 0 0.003610 0 0 KLHL1 57626 broad.mit.edu 37 13 70535554 70535554 + Missense_Mutation SNP C C T rs112767369 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:70535554C>T ENST00000377844.4 - 3 1462 c.703G>A c.(703-705)Gac>Aac p.D235N KLHL1_ENST00000545028.1_Missense_Mutation_p.D42N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 235 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GCAAAATAGTCGGAGACTGAA 0.448000 5 33 0 0 0.000602 0 0 DNAH7 56171 broad.mit.edu 37 2 196749452 196749452 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:196749452G>A ENST00000312428.6 - 35 5720 c.5620C>T c.(5620-5622)Cga>Tga p.R1874* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1874 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 ATTAGTTCTCGAAGAATCTTA 0.383000 11 44 0 0 0.008291 0 0 MPP7 143098 broad.mit.edu 37 10 28378648 28378648 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28378648G>A ENST00000337532.5 - 13 1351 c.1075C>T c.(1075-1077)Ccg>Tcg p.P359S MPP7_ENST00000445954.2_Missense_Mutation_p.P234S|MPP7_ENST00000540098.1_Missense_Mutation_p.P359S|MPP7_ENST00000375719.3_Missense_Mutation_p.P359S|MPP7_ENST00000375732.1_Missense_Mutation_p.P359S NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 359 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 CGCCGATACGGTGTCACTTCT 0.388000 61 57 0 0 0.003610 0 0 OR8D2 283160 broad.mit.edu 37 11 124189932 124189932 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:124189932T>A ENST00000357438.2 - 1 252 c.162A>T c.(160-162)caA>caT p.Q54H NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 54 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) GAGGGTAAAGTTGAGAACTGA 0.438000 34 21 0 0 0.002096 0 0 C15orf39 56905 broad.mit.edu 37 15 75500890 75500890 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:75500890C>T ENST00000360639.2 + 2 2821 c.2501C>T c.(2500-2502)cCc>cTc p.P834L C15orf39_ENST00000567617.1_Missense_Mutation_p.P834L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P834L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 834 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 TGCCCCTTCCCCCATGTGGTG 0.672000 3 9 0 0 0.004672 0 0 BAI1 575 broad.mit.edu 37 8 143562968 143562968 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:143562968G>A ENST00000517894.1 + 11 2920 c.2026G>A c.(2026-2028)Ggg>Agg p.G676R BAI1_ENST00000323289.5_Missense_Mutation_p.G676R O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 676 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) CTCTCAGGACGGGACCAGCTA 0.627000 6 10 0 0 0.001984 0 0 PRSS58 136541 broad.mit.edu 37 7 141955085 141955085 + Missense_Mutation SNP C C T rs147205406 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:141955085C>T ENST00000552471.1 - 3 545 c.226G>A c.(226-228)Gaa>Aaa p.E76K PRSS58_ENST00000547058.2_Missense_Mutation_p.E76K Q8IYP2 PRS58_HUMAN protease, serine, 58 76 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGATGCTTTTCATTAGAGTCT 0.408000 34 68 0 0 0.002836 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364349 23364349 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:23364349C>T ENST00000343070.2 + 3 715 c.539C>T c.(538-540)tCa>tTa p.S180L SCNN1B_ENST00000307331.5_Missense_Mutation_p.S225L|SCNN1B_ENST00000568923.1_Missense_Mutation_p.S180L|SCNN1B_ENST00000568085.1_Missense_Mutation_p.S180L NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 180 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) AGCTCAGCATCAGAAAAGATC 0.522000 22 75 0 0 0.003330 0 0 FBXL5 26234 broad.mit.edu 37 4 15607372 15607372 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:15607372G>A ENST00000341285.3 - 11 2174 c.2050C>T c.(2050-2052)Cga>Tga p.R684* FBXL5_ENST00000382358.4_Nonsense_Mutation_p.R558*|FBXL5_ENST00000412094.2_Nonsense_Mutation_p.R667* NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 684 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 CAGCAGGCTCGAAAACCACAC 0.443000 15 38 0 0 0.004990 0 0 ATP7B 540 broad.mit.edu 37 13 52548297 52548297 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:52548297C>T ENST00000242839.4 - 2 1215 c.1059G>A c.(1057-1059)caG>caA p.Q353Q ATP7B_ENST00000448424.2_Silent_p.Q353Q|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.Q353Q|ATP7B_ENST00000344297.5_Silent_p.Q353Q|ATP7B_ENST00000542656.1_Silent_p.Q321Q|ATP7B_ENST00000400370.3_Silent_p.Q353Q NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 353 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) TGCCCTGGACCTGGTTTCTCG 0.537000 Wilson disease 45 73 0 0 0.003610 0 0 FRY 10129 broad.mit.edu 37 13 32721429 32721429 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:32721429C>T ENST00000380250.3 + 12 1686 c.1190C>T c.(1189-1191)cCc>cTc p.P397L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AACAAAGATCCCAAGATGGCT 0.413000 13 17 0 0 0.001855 0 0 DSC1 1823 broad.mit.edu 37 18 28711619 28711619 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:28711619C>T ENST00000257197.3 - 15 2686 c.2425G>A c.(2425-2427)Gga>Aga p.G809R RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G809R|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 809 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) CCAGTATCTCCCTGCCCCACT 0.498000 31 96 0 0 0.008361 0 0 MUC16 94025 broad.mit.edu 37 19 9073701 9073701 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9073701G>A ENST00000397910.4 - 3 13948 c.13745C>T c.(13744-13746)tCa>tTa p.S4582L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4584 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S4582L(2)|p.S4582*(2)|p.S215*(1)|p.S215L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCAGGTATTGATATAGAAGC 0.517000 19 44 0 0 0.001882 0 0 IRX1 79192 broad.mit.edu 37 5 3599663 3599663 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:3599663G>A ENST00000302006.3 + 2 653 c.601G>A c.(601-603)Gaa>Aaa p.E201K CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CAAGGACCAGGAAGATGGAGC 0.622000 19 43 0 0 0.006122 0 0 PDE6C 5146 broad.mit.edu 37 10 95400746 95400746 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:95400746G>A ENST00000371447.3 + 14 1945 c.1807G>A c.(1807-1809)Gat>Aat p.D603N NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 603 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) TTTCTGCCATGATATTGACCA 0.383000 22 27 0 0 0.006320 0 0 MUC16 94025 broad.mit.edu 37 19 8993443 8993443 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:8993443C>T ENST00000397910.4 - 66 41849 c.41646G>A c.(41644-41646)ctG>ctA p.L13882L MUC16_ENST00000380951.5_Silent_p.L523L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13885 SEA 12. 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 TCAGCTGGCTCAGCTCCAAAT 0.592000 46 64 0 0 0.003610 0 0 DGKH 160851 broad.mit.edu 37 13 42763384 42763384 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:42763384C>T ENST00000379274.2 + 15 1872 c.1443C>T c.(1441-1443)atC>atT p.I481I DGKH_ENST00000538674.1_Silent_p.I372I|DGKH_ENST00000261491.4_Silent_p.I617I|DGKH_ENST00000540693.1_Silent_p.I617I|DGKH_ENST00000337343.4_Silent_p.I617I|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.I481I Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 617 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CAAGGGAAATCATGTTGCGGG 0.458000 18 36 0 0 0.004990 0 0 NEUROD2 4761 broad.mit.edu 37 17 37762201 37762201 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:37762201C>T ENST00000302584.4 - 2 872 c.652G>A c.(652-654)Gag>Aag p.E218K NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 218 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) GCGCCTTGCTCCGTGAGGAAG 0.682000 15 24 0 0 0.004990 0 0 GRPEL2 134266 broad.mit.edu 37 5 148727972 148727972 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:148727972A>T ENST00000329271.3 + 2 325 c.215A>T c.(214-216)gAa>gTa p.E72V GRPEL2_ENST00000513661.1_Missense_Mutation_p.E72V|RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_Missense_Mutation_p.E72V NM_152407.3 NP_689620.2 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial (E. coli) 72 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAGAAAGAAGTCCAAGAT 0.398000 26 24 0 0 0.003954 0 0 CXCL5 6374 broad.mit.edu 37 4 74863790 74863790 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:74863790C>T ENST00000296027.4 - 3 462 c.265G>A c.(265-267)Gaa>Aaa p.E89K NM_002994.3 NP_002985.1 P42830 CXCL5_HUMAN chemokine (C-X-C motif) ligand 5 89 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity p.E89K(1) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) AGACAAATTTCCTTCCCGTTC 0.423000 44 79 0 0 0.003610 0 0 ARMC4 55130 broad.mit.edu 37 10 28273212 28273212 + Missense_Mutation SNP T T C rs138425193 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28273212T>C ENST00000305242.5 - 5 675 c.583A>G c.(583-585)Agt>Ggt p.S195G ARMC4_ENST00000239715.3_Missense_Mutation_p.S52G NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 195 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 GGACTTAAACTTATTTCTCTG 0.328000 28 74 0 0 0.008361 0 0 FLNC 2318 broad.mit.edu 37 7 128480922 128480922 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:128480922G>A ENST00000325888.8 + 11 1972 c.1711G>A c.(1711-1713)Gtg>Atg p.V571M FLNC_ENST00000346177.6_Missense_Mutation_p.V571M NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 571 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 AGAGGCAGGAGTGCAAAAGGT 0.622000 9 33 0 0 0.006214 0 0 PICK1 9463 broad.mit.edu 37 22 38468555 38468555 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:38468555T>C ENST00000404072.3 + 9 975 c.628T>C c.(628-630)Ttc>Ctc p.F210L RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.F210L NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 210 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TTTTGTGAAGTTCGCCGATGC 0.587000 41 63 0 0 0.007835 0 0 KCNH7 90134 broad.mit.edu 37 2 163374419 163374419 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:163374419G>A ENST00000332142.5 - 4 812 c.713C>T c.(712-714)tCc>tTc p.S238F KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S238F NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 238 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) TTTGGGAGAGGAATGGTCAAG 0.488000 15 71 0 0 0.003163 0 0 MICAL2 9645 broad.mit.edu 37 11 12270770 12270770 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:12270770C>T ENST00000256194.4 + 22 3112 c.2824C>T c.(2824-2826)Cat>Tat p.H942Y MICAL2_ENST00000342902.5_Intron|MICAL2_ENST00000527546.1_Missense_Mutation_p.H752Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H752Y|MICAL2_ENST00000537344.1_Missense_Mutation_p.H752Y NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 942 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) tcatcccagccatttgagaac 0.473000 21 25 0 0 0.001882 0 0 RP1L1 94137 broad.mit.edu 37 8 10469043 10469043 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:10469043G>A ENST00000382483.3 - 4 2788 c.2565C>T c.(2563-2565)acC>acT p.T855T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 855 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCCTGGGCGGGGTGGGACAGT 0.731000 11 11 0 0 0.000978 0 0 TMEM43 79188 broad.mit.edu 37 3 14175299 14175299 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:14175299C>T ENST00000306077.4 + 7 827 c.573C>T c.(571-573)ttC>ttT p.F191F NM_024334.2 NP_077310.1 Q9BTV4 TMM43_HUMAN transmembrane protein 43 191 endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2) 19 GCAGGTTTTTCCTCTCGTCAG 0.587000 60 94 0 0 0.003610 0 0 CHDH 55349 broad.mit.edu 37 3 53853579 53853579 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:53853579T>C ENST00000315251.5 - 7 1680 c.1243A>G c.(1243-1245)Acc>Gcc p.T415A NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 415 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) TCCTGCTGGGTGGGGACCCGC 0.617000 36 80 0 0 0.002222 0 0 SHANK1 50944 broad.mit.edu 37 19 51219589 51219589 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:51219589C>T ENST00000293441.1 - 2 420 c.402G>A c.(400-402)gaG>gaA p.E134E SHANK1_ENST00000359082.3_Silent_p.E134E|SHANK1_ENST00000391814.1_Silent_p.E134E NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 134 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) GCAGCCTCTCCTCCTCCAGGA 0.612000 19 65 0 0 0.006122 0 0 HNRNPL 3191 broad.mit.edu 37 19 39330888 39330888 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:39330888G>A ENST00000221419.5 - 8 1447 c.1081C>T c.(1081-1083)Ccc>Tcc p.P361S HNRNPL_ENST00000600873.1_Missense_Mutation_p.P228S NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 361 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CCATACTGGGGGCCGTAGCGA 0.642000 12 11 0 0 0.001368 0 0 USP19 10869 broad.mit.edu 37 3 49148460 49148460 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:49148460G>A ENST00000453664.1 - 23 3750 c.3432C>T c.(3430-3432)gcC>gcT p.A1144A USP19_ENST00000417901.1_Silent_p.A1156A|USP19_ENST00000398898.2_Silent_p.A1093A|USP19_ENST00000398896.1_Silent_p.A861A|USP19_ENST00000434032.2_Silent_p.A1154A|USP19_ENST00000398892.3_Silent_p.A1093A|USP19_ENST00000398888.2_Silent_p.A1053A NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 1053 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGCCGGCCCGGGCAGCCTCAC 0.617000 27 56 0 0 0.005443 0 0 DPEP1 1800 broad.mit.edu 37 16 89703943 89703943 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:89703943A>G ENST00000393092.3 + 8 1127 c.836A>G c.(835-837)aAc>aGc p.N279S DPEP1_ENST00000421184.1_Missense_Mutation_p.N279S|DPEP1_ENST00000261615.4_Missense_Mutation_p.N279S NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 279 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) AACAAGGCCAACCTGTCCCAA 0.577000 51 52 0 0 0.003610 0 0 FBXW9 84261 broad.mit.edu 37 19 12800063 12800063 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:12800063G>A ENST00000380339.3 - 10 1470 c.1434C>T c.(1432-1434)gaC>gaT p.D478D FBXW9_ENST00000544494.1_Silent_p.D186D|FBXW9_ENST00000393261.3_Silent_p.D448D|FBXW9_ENST00000587955.1_Silent_p.D468D Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 478 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 CTAGCGACAGGTCTCCAGAGC 0.657000 15 10 0 0 0.004990 0 0 IGSF9 57549 broad.mit.edu 37 1 159897580 159897580 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:159897580G>A ENST00000368094.1 - 20 3525 c.3328C>T c.(3328-3330)Cgg>Tgg p.R1110W IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R1094W NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1110 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) GGTCTGAGCCGGGAGCTGGCC 0.597000 36 64 0 0 0.003271 0 0 FAM135B 51059 broad.mit.edu 37 8 139380195 139380195 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:139380195G>A ENST00000395297.1 - 2 202 c.32C>T c.(31-33)tCg>tTg p.S11L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 11 p.S11L(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TAGCTCTACCGAAAACTCAAC 0.368000 HNSCC(54;0.14) 38 83 0 0 0.002522 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855983 12855983 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:12855983C>T ENST00000332296.7 + 4 1366 c.1263C>T c.(1261-1263)tcC>tcT p.S421S PRAMEF1_ENST00000400814.3_Silent_p.S176S NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 421 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) 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) GTTTGAATTCCTTGGTTCGTG 0.552000 28 140 0 0 0.008740 0 0 FAM71B 153745 broad.mit.edu 37 5 156590459 156590459 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:156590459C>T ENST00000302938.4 - 2 912 c.817G>A c.(817-819)Gga>Aga p.G273R NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 273 Ala-rich. 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) GTTGCTGTTCCTGCCACTGCC 0.582000 55 156 0 0 0.003610 0 0 ZNF37BP 100129482 broad.mit.edu 37 10 43016349 43016349 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:43016349G>A ENST00000473592.1 - 0 2850 GAATTCTCAGGGAAAGCTTTC 0.373000 20 19 0 0 0.008871 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92844842 92844842 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:92844842G>A ENST00000394468.2 - 3 664 c.587C>T c.(586-588)tCc>tTc p.S196F HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S184F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S219F|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S184F NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 196 Ig-like C2-type 1. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GGGAGAAAAGGAGTAGGTGGA 0.502000 36 69 0 0 0.006230 0 0 SLC8B1 80024 broad.mit.edu 37 12 113758889 113758889 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:113758889G>A ENST00000552014.1 - 5 849 c.334C>T c.(334-336)Ctg>Ttg p.L112L SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.L112L|SLC24A6_ENST00000546737.1_Silent_p.L112L Q6J4K2 NCKX6_HUMAN 112 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CCCAGAATCAGAAACAGGTAG 0.617000 13 16 0 0 0.001368 0 0 FGF5 2250 broad.mit.edu 37 4 81196108 81196108 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:81196108G>A ENST00000312465.7 + 2 627 c.401G>A c.(400-402)cGa>cAa p.R134Q FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 134 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GTAGGAATACGAGGAGTTTTC 0.343000 14 23 0 0 0.008871 0 0 KDM3B 51780 broad.mit.edu 37 5 137761259 137761259 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:137761259G>A ENST00000314358.5 + 17 4599 c.4399G>A c.(4399-4401)Gag>Aag p.E1467K KDM3B_ENST00000542866.1_Missense_Mutation_p.E499K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E1123K NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1467 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GGATGGTTTCGAGATCATATG 0.408000 9 59 0 0 0.006214 0 0 NEBL 10529 broad.mit.edu 37 10 21101729 21101729 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:21101729C>T ENST00000377122.4 - 24 2883 c.2487G>A c.(2485-2487)gtG>gtA p.V829V NEBL_ENST00000377159.4_Silent_p.V132V|NEBL_ENST00000417816.2_Silent_p.V166V NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 829 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 TGTCCATCTCCACGATGTGAG 0.532000 20 32 0 0 0.001523 0 0 ZNF483 158399 broad.mit.edu 37 9 114304716 114304716 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:114304716G>A ENST00000309235.5 + 6 1659 c.1501G>A c.(1501-1503)Ggg>Agg p.G501R ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 501 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 TGATGACTGTGGGAAAGGTTT 0.388000 19 10 0 0 0.006122 0 0 CHST6 4166 broad.mit.edu 37 16 75513311 75513311 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:75513311G>A ENST00000332272.4 - 3 595 c.416C>T c.(415-417)cCc>cTc p.P139L RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.P139L NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 139 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGCGCCTCGGGGAAAGGCACT 0.682000 6 35 0 0 0.001984 0 0 SF3B4 10262 broad.mit.edu 37 1 149895501 149895501 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:149895501G>A ENST00000271628.8 - 6 1792 c.1208C>T c.(1207-1209)cCa>cTa p.P403L NM_005850.4 NP_005841.1 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4, 49kDa 403 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) GGGTCTGGGTGGAGGGAGAGG 0.622000 14 16 0 0 0.004007 0 0 CYP2A7 1549 broad.mit.edu 37 19 41383100 41383100 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:41383100G>A ENST00000301146.4 - 7 1697 c.1156C>T c.(1156-1158)Cct>Tct p.P386S CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.P335S NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 386 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGCACCTTAGGGAGGAAAAAA 0.532000 31 53 0 0 0.001786 0 0 ANK3 288 broad.mit.edu 37 10 61959912 61959912 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:61959912C>T ENST00000280772.1 - 13 1657 c.1466G>A c.(1465-1467)gGa>gAa p.G489E ANK3_ENST00000373827.2_Missense_Mutation_p.G483E|ANK3_ENST00000503366.1_Missense_Mutation_p.G472E NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 489 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 TACCTGAGCTCCGTCTTGTAC 0.428000 16 30 0 0 0.004990 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940116 68940116 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:68940116G>A ENST00000433211.1 - 7 1180 c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R336C|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R336C NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 336 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R336C(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AGAGCCTGGCGAATGGCGTTG 0.512000 42 32 0 0 0.002222 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2493252 2493252 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:2493252G>A ENST00000355716.4 + 6 991 c.692G>A c.(691-693)aGg>aAg p.R231K NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 231 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) AGAAAGCCAAGGGGTGAGCAC 0.572000 """Mis, N, F""" follicular lymphoma 40 76 0 0 0.002852 0 0 DNAH9 1770 broad.mit.edu 37 17 11592929 11592929 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:11592929G>A ENST00000262442.3 + 20 3858 c.3790G>A c.(3790-3792)Gag>Aag p.E1264K DNAH9_ENST00000454412.2_Missense_Mutation_p.E1264K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1264 Stem (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) CAGGCACATCGAGATCCAGCA 0.493000 48 39 0 0 0.003610 0 0 AMTN 401138 broad.mit.edu 37 4 71396865 71396865 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:71396865G>A ENST00000339336.4 + 8 597 c.467G>A c.(466-468)gGa>gAa p.G156E AMTN_ENST00000504451.1_Missense_Mutation_p.G155E NM_212557.2 NP_997722.1 Q6UX39 AMTN_HUMAN amelotin 156 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) CTTCCAGCAGGAGGAGCAGGT 0.607000 17 26 0 0 0.004990 0 0 TBC1D21 161514 broad.mit.edu 37 15 74178861 74178861 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:74178861G>A ENST00000300504.2 + 8 768 c.685G>A c.(685-687)Ggt>Agt p.G229S TBC1D21_ENST00000562056.1_Missense_Mutation_p.G192S|TBC1D21_ENST00000535547.2_Missense_Mutation_p.G193S NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 229 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 AGAAGGGAAGGGTGCAGGGGC 0.557000 24 41 0 0 0.003954 0 0 SPHKAP 80309 broad.mit.edu 37 2 228890178 228890178 + Nonsense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:228890178C>A ENST00000392056.3 - 5 419 c.373G>T c.(373-375)Gaa>Taa p.E125* SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E125* NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 125 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) ATTTCATTTTCTTTTGGTTGT 0.363000 18 43 1.33834e-09 1.48797e-09 0.007413 1 0 RFPL2 10739 broad.mit.edu 37 22 32589190 32589190 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:32589190A>G ENST00000248980.4 - 1 276 c.72T>C c.(70-72)ttT>ttC p.F24F RFPL2_ENST00000400237.1_Intron|RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000489846.1_5'UTR NM_006605.3 NP_006596.2 O75678 RFPL2_HUMAN ret finger protein-like 2 0 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CTGCCAGGGGAAAAGTACACA 0.468000 38 54 0 0 0.005524 0 0 ATP12A 479 broad.mit.edu 37 13 25283526 25283526 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:25283526G>A ENST00000218548.6 + 18 2869 c.2536G>A c.(2536-2538)Gag>Aag p.E846K ATP12A_ENST00000381946.3_Missense_Mutation_p.E840K NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 840 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) CTTGGCGTACGAGAAAGCTGA 0.562000 15 63 0 0 0.008871 0 0 RDH16 8608 broad.mit.edu 37 12 57346031 57346031 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57346031C>T ENST00000398138.3 - 4 1593 c.e4-1 RDH16_ENST00000360752.4_Splice_Site NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 GATTTCTTATCTGTTAAGAAT 0.478000 11 14 0 0 0.000978 0 0 DSEL 92126 broad.mit.edu 37 18 65180536 65180536 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:65180536G>A ENST00000310045.7 - 2 2813 c.1340C>T c.(1339-1341)tCt>tTt p.S447F CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 437 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CAGCTTCCCAGATTTAAAAGA 0.458000 12 28 0 0 0.001368 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567727 99567727 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:99567727C>T ENST00000331335.5 - 5 3263 c.2793G>A c.(2791-2793)acG>acA p.T931T FILIP1L_ENST00000471562.1_Silent_p.T691T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Silent_p.T507T|FILIP1L_ENST00000354552.3_Silent_p.T931T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.T691T|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 931 cytoplasm|membrane|myosin complex|nucleus p.T931T(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CTGCAGTACTCGTGTAAGAGT 0.473000 52 168 0 0 0.003610 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1507247 1507247 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:1507247G>A ENST00000330475.4 - 9 1289 c.846C>T c.(844-846)ctC>ctT p.L282L ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Silent_p.L292L|ADAMTSL5_ENST00000395467.2_Silent_p.L51L NM_213604.2 NP_998769.2 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 282 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) 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) GCACCTGTAGGAGCAGGTCAT 0.677000 40 70 0 0 0.006999 0 0 DEPTOR 64798 broad.mit.edu 37 8 121019092 121019092 + Missense_Mutation SNP C C T rs147092773 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:121019092C>T ENST00000286234.5 + 7 1104 c.974C>T c.(973-975)cCg>cTg p.P325L DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.P224L NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 325 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 CCCGGGGCTCCGTATGCAAGG 0.507000 14 26 0 0 0.003163 0 0 COL8A2 1296 broad.mit.edu 37 1 36564376 36564376 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:36564376C>T ENST00000397799.1 - 4 1130 c.906G>A c.(904-906)ggG>ggA p.G302G COL8A2_ENST00000481785.1_Silent_p.G237G|COL8A2_ENST00000303143.4_Silent_p.G302G P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 302 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) GGCCCCGGGTCCCTGGCTCCC 0.697000 14 14 0 0 0.003163 0 0 LRP1B 53353 broad.mit.edu 37 2 141108583 141108583 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:141108583A>G ENST00000389484.3 - 77 12646 c.11675T>C c.(11674-11676)aTt>aCt p.I3892T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3892 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) GTCATTAGCAATGTAGAGAAC 0.284000 TSP Lung(27;0.18) 51 62 0 0 0.003610 0 0 PALLD 23022 broad.mit.edu 37 4 169632817 169632817 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:169632817G>A ENST00000335742.7 + 10 1918 c.561G>A c.(559-561)ttG>ttA p.L187L PALLD_ENST00000261509.6_Silent_p.L569L|PALLD_ENST00000505667.1_Silent_p.L569L|PALLD_ENST00000512127.1_Silent_p.L187L Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 569 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CTCCAATCTTGGAGACAAGTT 0.483000 Pancreatic Cancer, Familial Clustering of 18 37 0 0 0.004990 0 0 CUL7 9820 broad.mit.edu 37 6 43019452 43019452 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:43019452C>T ENST00000535468.1 - 3 968 c.882G>A c.(880-882)gaG>gaA p.E294E CUL7_ENST00000265348.3_Silent_p.E210E NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 210 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding p.E210D(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCAGGTGTTTCTCAATGGCTT 0.532000 59 104 0 0 0.003610 0 0 LMOD3 56203 broad.mit.edu 37 3 69168726 69168726 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:69168726C>T ENST00000420581.2 - 2 959 c.780G>A c.(778-780)ctG>ctA p.L260L LMOD3_ENST00000475434.1_Silent_p.L260L|LMOD3_ENST00000489031.1_Silent_p.L260L NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 260 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CAATGTTGTTCAGGTTGAGTT 0.408000 71 135 0 0 0.003610 0 0 OR10K2 391107 broad.mit.edu 37 1 158390183 158390183 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158390183G>A ENST00000314902.2 - 1 473 c.474C>T c.(472-474)atC>atT p.I158I NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGGATGTGATGATCTGTGCAA 0.493000 26 34 0 0 0.003954 0 0 LMAN1 3998 broad.mit.edu 37 18 57014785 57014785 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:57014785G>A ENST00000251047.5 - 7 1499 c.782C>T c.(781-783)tCt>tTt p.S261F LMAN1_ENST00000587940.1_5'UTR NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 261 L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) AGTCAGAAAAGAAAGGACATC 0.289000 19 12 0 0 0.001523 0 0 OR5B21 219968 broad.mit.edu 37 11 58275543 58275543 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:58275543G>A ENST00000360374.2 - 1 35 c.36C>T c.(34-36)ctC>ctT p.L12L NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTAATCCCAAGAGGATAAACT 0.438000 17 38 0 0 0.007413 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038246 62038246 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:62038246G>A ENST00000354587.3 - 17 2570 c.2394C>T c.(2392-2394)atC>atT p.I798I KCNQ2_ENST00000359125.2_Silent_p.I790I|KCNQ2_ENST00000360480.3_Silent_p.I762I|KCNQ2_ENST00000370226.1_Silent_p.I760I|KCNQ2_ENST00000430658.1_Silent_p.I759I|KCNQ2_ENST00000359689.1_Silent_p.I790I|KCNQ2_ENST00000344462.3_Silent_p.I786I|KCNQ2_ENST00000370224.1_Silent_p.I798I|KCNQ2_ENST00000357249.2_Silent_p.I772I O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 790 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.I790I(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCACGGACGGGATGGAGATGG 0.672000 7 15 0 0 0.004482 0 0 UGT2A2 574537 broad.mit.edu 37 4 70504802 70504802 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70504802G>A ENST00000457664.2 - 1 556 c.557C>T c.(556-558)tCa>tTa p.S186L UGT2A1_ENST00000514019.1_Missense_Mutation_p.S387L|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron NM_001105677.2 NP_001099147.2 CTCCACTGTTGATGCTGGAGA 0.453000 15 25 0 0 0.004007 0 0 FRMD4A 55691 broad.mit.edu 37 10 13693946 13693946 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:13693946C>T ENST00000357447.2 - 24 3447 c.3079G>A c.(3079-3081)Gat>Aat p.D1027N FRMD4A_ENST00000358621.4_Missense_Mutation_p.D1012N|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D1027N NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 1027 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TCAGACCCATCCAGAATGGGT 0.478000 18 71 0 0 0.003330 0 0 PRKDC 5591 broad.mit.edu 37 8 48809737 48809737 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:48809737G>A ENST00000314191.2 - 30 3638 c.3582C>T c.(3580-3582)ttC>ttT p.F1194F PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.F1194F NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1194 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.F1194F(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATAAAGGAACGAATTTATAAA 0.368000 Non-homologous end-joining 71 138 0 0 0.003610 0 0 COL28A1 340267 broad.mit.edu 37 7 7484055 7484055 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:7484055C>T ENST00000399429.3 - 19 1715 c.1575G>A c.(1573-1575)ggG>ggA p.G525G NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 525 Collagen-like 4. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTACCTTCTTCCCTGCAGCTC 0.453000 45 77 0 0 0.003610 0 0 RASGRF1 5923 broad.mit.edu 37 15 79298706 79298706 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:79298706G>A ENST00000419573.3 - 15 2210 c.1936C>T c.(1936-1938)Ctg>Ttg p.L646L RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.L633L NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 646 N-terminal Ras-GEF. 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 CGGATCTGCAGCACTTTGCAG 0.557000 27 52 0 0 0.004656 0 0 HTR4 3360 broad.mit.edu 37 5 147889316 147889316 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:147889316G>A ENST00000360693.3 - 6 917 c.779C>T c.(778-780)aCc>aTc p.T260I HTR4_ENST00000520514.1_Missense_Mutation_p.T260I|HTR4_ENST00000521735.1_Missense_Mutation_p.T260I|HTR4_ENST00000354217.2_Missense_Mutation_p.T260I|HTR4_ENST00000377888.3_Missense_Mutation_p.T260I|HTR4_ENST00000362016.2_Missense_Mutation_p.T274I|HTR4_ENST00000314512.6_Missense_Mutation_p.T260I|HTR4_ENST00000521530.1_Missense_Mutation_p.T260I|HTR4_ENST00000517929.1_Missense_Mutation_p.T260I NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 260 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GATGCACAGGGTCTTGGCTGC 0.547000 29 33 0 0 0.001786 0 0 STRBP 55342 broad.mit.edu 37 9 125932298 125932298 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:125932298C>T ENST00000447404.2 - 5 722 c.418G>A c.(418-420)Gaa>Aaa p.E140K STRBP_ENST00000360998.3_Missense_Mutation_p.E126K|STRBP_ENST00000348403.5_Missense_Mutation_p.E140K Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 140 DZF. 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 ACACATTGTTCCACTTGATAT 0.348000 10 5 0 0 0.002450 0 0 KLHL13 90293 broad.mit.edu 37 X 117043777 117043777 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:117043777G>A ENST00000371876.1 - 4 3121 c.700C>T c.(700-702)Cca>Tca p.P234S KLHL13_ENST00000541812.1_Missense_Mutation_p.P269S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P234S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P288S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P234S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P234S|KLHL13_ENST00000262820.3_Missense_Mutation_p.P285S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P269S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P243S Q9P2N7 KLH13_HUMAN kelch-like family member 13 285 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GTCATCAGTGGAAATCGTATG 0.433000 43 18 0 0 0.002852 0 0 TGM2 7052 broad.mit.edu 37 20 36779353 36779353 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:36779353C>T ENST00000361475.2 - 4 713 c.540G>A c.(538-540)tgG>tgA p.W180* TGM2_ENST00000536724.1_Nonsense_Mutation_p.W120*|TGM2_ENST00000536701.1_Nonsense_Mutation_p.W99* NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 180 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GCCCAAAATTCCAAGGTATGT 0.582000 62 92 0 0 0.003610 0 0 ESCO2 157570 broad.mit.edu 37 8 27634107 27634107 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:27634107C>T ENST00000305188.8 + 3 520 c.282C>T c.(280-282)ctC>ctT p.L94L ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 94 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) AGTGGTACCTCAATCCACTGG 0.353000 SC Phocomelia syndrome 22 30 0 0 0.001523 0 0 EIF2S3 1968 broad.mit.edu 37 X 24086119 24086119 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:24086119C>T ENST00000253039.4 + 9 1159 c.906C>T c.(904-906)tcC>tcT p.S302S NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 302 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 GTATTGTTTCCAAAGATAGTG 0.363000 46 20 0 0 0.003214 0 0 MTMR3 8897 broad.mit.edu 37 22 30416441 30416441 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:30416441C>T ENST00000333027.3 + 17 3121 c.2793C>T c.(2791-2793)gcC>gcT p.A931A MTMR3_ENST00000323630.5_Silent_p.A795A|MTMR3_ENST00000406629.1_Silent_p.A931A|MTMR3_ENST00000401950.2_Silent_p.A931A|MTMR3_ENST00000351488.3_Silent_p.A931A|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 931 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GCAATGGTGCCCCAGAGACTG 0.577000 32 48 0 0 0.003271 0 0 OR51B5 282763 broad.mit.edu 37 11 5364700 5364700 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5364700C>T ENST00000300773.2 - 1 109 c.55G>A c.(55-57)Gag>Aag p.E19K AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAGCTTCCTCCAAGCCTGGA 0.423000 20 33 0 0 0.002299 0 0 SP140 11262 broad.mit.edu 37 2 231112730 231112730 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:231112730G>A ENST00000392045.3 + 8 956 c.842G>A c.(841-843)aGa>aAa p.R281K SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.R281K|SP140_ENST00000343805.6_Missense_Mutation_p.R255K|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 281 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) CCCAGAAAAAGAAACCAAGAC 0.493000 25 33 0 0 0.002780 0 0 SMTNL1 219537 broad.mit.edu 37 11 57311208 57311208 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:57311208G>A ENST00000457912.1 + 3 898 c.898G>A c.(898-900)Gag>Aag p.E300K SMTNL1_ENST00000527972.1_Missense_Mutation_p.E282K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E245K E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 282 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 CCCCACTGGGGAGGGGCACAA 0.647000 4 7 0 0 0.000248 0 0 USP10 9100 broad.mit.edu 37 16 84797807 84797807 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:84797807C>T ENST00000219473.7 + 10 1883 c.1770C>T c.(1768-1770)tcC>tcT p.S590S USP10_ENST00000570191.1_Silent_p.S594S NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 590 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 ACAAGACTTCCGTCACCCGCC 0.488000 27 82 0 0 0.003954 0 0 RP1 6101 broad.mit.edu 37 8 55538364 55538364 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:55538364G>A ENST00000220676.1 + 4 2070 c.1922G>A c.(1921-1923)aGa>aAa p.R641K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 641 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) GTCACTGCAAGAATTGACAGA 0.353000 22 29 0 0 0.002299 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239651 1239651 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:1239651C>T ENST00000324642.3 + 6 942 c.819C>T c.(817-819)atC>atT p.I273I SLC6A18_ENST00000296821.4_Silent_p.I268I NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 273 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAGGACACATCGCTTTTGCAA 0.582000 16 82 0 0 0.004990 0 0 FRAS1 80144 broad.mit.edu 37 4 79369340 79369340 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:79369340C>T ENST00000264895.6 + 44 6584 c.6144C>T c.(6142-6144)gtC>gtT p.V2048V NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2047 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 CTGGCATGGTCGTGGATGAGT 0.542000 21 39 0 0 0.004656 0 0 CAMTA2 23125 broad.mit.edu 37 17 4889558 4889558 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:4889558G>A ENST00000361571.5 - 2 440 c.29C>T c.(28-30)cCc>cTc p.P10L CAMTA2_ENST00000358183.4_5'UTR|CAMTA2_ENST00000572543.1_5'UTR|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P10L|CAMTA2_ENST00000381311.5_Intron|CAMTA2_ENST00000348066.3_5'UTR NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 475 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CGGCCTGAGGGGCCGGGGGGA 0.592000 7 4 0 0 0.004482 0 0 C8orf47 203111 broad.mit.edu 37 8 99101565 99101565 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:99101565G>A ENST00000318528.3 + 2 679 c.320G>A c.(319-321)gGa>gAa p.G107E C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 107 kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) ACTCAGCCTGGAGAGGGACTG 0.577000 30 56 0 0 0.008361 0 0 MYO1A 4640 broad.mit.edu 37 12 57431350 57431350 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57431350G>A ENST00000442789.2 - 20 2324 c.2037C>T c.(2035-2037)ttC>ttT p.F679F MYO1A_ENST00000300119.3_Silent_p.F679F|MYO1A_ENST00000544473.1_Silent_p.F517F NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 679 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GGCTTCTAATGAAGATCTTTG 0.537000 108 231 0 0 0.003610 0 0 DOCK5 80005 broad.mit.edu 37 8 25156545 25156545 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:25156545T>C ENST00000276440.7 + 8 736 c.692T>C c.(691-693)tTt>tCt p.F231S DOCK5_ENST00000481100.1_Missense_Mutation_p.F231S NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 231 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTCAAGAACTTTGTCTGCAAC 0.507000 7 29 0 0 0.003080 0 0 FGF23 8074 broad.mit.edu 37 12 4479808 4479808 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:4479808G>A ENST00000237837.1 - 3 602 c.457C>T c.(457-459)Ccg>Tcg p.P153S NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 153 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TGGGAGTACGGGGGTGGGTTC 0.617000 38 72 0 0 0.004878 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15880881 15880881 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:15880881C>T ENST00000595525.1 + 0 529 CYP4F24P_ENST00000587443.2_RNA GTCCGATCTTCTTCCAGAAAC 0.493000 4 1 0 0 0.000248 0 0 IGSF9 57549 broad.mit.edu 37 1 159897581 159897581 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:159897581G>A ENST00000368094.1 - 20 3524 c.3327C>T c.(3325-3327)tcC>tcT p.S1109S IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.S1093S NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1109 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) GTCTGAGCCGGGAGCTGGCCA 0.592000 37 62 0 0 0.003271 0 0 NCR3 259197 broad.mit.edu 37 6 31557865 31557865 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:31557865G>A ENST00000376073.4 - 2 345 c.82C>T c.(82-84)Cgt>Tgt p.R28C NCR3_ENST00000376072.3_Missense_Mutation_p.R28C|NCR3_ENST00000340027.5_Missense_Mutation_p.R28C|NCR3_ENST00000376071.4_Missense_Mutation_p.R28C|NCR3_ENST00000491161.1_5'UTR NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 28 Ig-like. cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 TCCAGGGTACGAATCTCAGGG 0.572000 32 64 0 0 0.002445 0 0 SLC29A4 222962 broad.mit.edu 37 7 5338733 5338733 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:5338733C>T ENST00000396872.2 + 8 1158 c.997C>T c.(997-999)Cag>Tag p.Q333* SLC29A4_ENST00000406453.3_Nonsense_Mutation_p.Q319*|SLC29A4_ENST00000297195.4_Nonsense_Mutation_p.Q333* NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 333 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GCCAAGGGTCCAGCGCAGCTG 0.721000 9 9 0 0 0.004482 0 0 IL34 146433 broad.mit.edu 37 16 70688538 70688538 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:70688538G>A ENST00000429149.2 + 3 681 c.126G>A c.(124-126)cgG>cgA p.R42R IL34_ENST00000288098.2_Silent_p.R42R|IL34_ENST00000569641.1_Intron|IL34_ENST00000566361.1_Silent_p.R17R NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 42 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.R42Q(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 GTTTTCTGCGGGACAAGCTGC 0.592000 OREG0023916 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 72 0 0 0.001368 0 0 ASPM 259266 broad.mit.edu 37 1 197104367 197104367 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:197104367G>A ENST00000367409.4 - 5 2288 c.2032C>T c.(2032-2034)Ccc>Tcc p.P678S ASPM_ENST00000294732.7_Missense_Mutation_p.P678S NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 678 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 GGGTGTCTGGGAATATCTAAG 0.333000 14 37 0 0 0.003163 0 0 NKX6-1 4825 broad.mit.edu 37 4 85419084 85419084 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:85419084C>T ENST00000295886.4 - 1 519 c.298G>A c.(298-300)Gat>Aat p.D100N NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 100 D -> N (in Ref. 1; AAD11962). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) CTCAGGATATCGTTGATGCCG 0.741000 5 6 0 0 0.000602 0 0 SPRYD4 283377 broad.mit.edu 37 12 56862919 56862919 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:56862919C>T ENST00000338146.5 + 2 257 c.182C>T c.(181-183)cCc>cTc p.P61L MIP_ENST00000555551.1_5'UTR NM_207344.3 NP_997227.1 Q8WW59 SPRY4_HUMAN SPRY domain containing 4 61 B30.2/SPRY. nucleus kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1) 7 GGATTGGAGCCCACCAAGGTG 0.562000 36 68 0 0 0.004289 0 0 TMEM169 92691 broad.mit.edu 37 2 216960723 216960723 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:216960723C>T ENST00000454545.1 + 3 363 c.37C>T c.(37-39)Ctt>Ttt p.L13F TMEM169_ENST00000295658.4_Missense_Mutation_p.L13F|TMEM169_ENST00000437356.2_Missense_Mutation_p.L13F|TMEM169_ENST00000406027.2_Missense_Mutation_p.L13F NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 13 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAGGTCCAGCTTCCAAGCCC 0.527000 34 40 0 0 0.002836 0 0 KCTD7 154881 broad.mit.edu 37 7 66270311 66270311 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:66270311C>T ENST00000380828.2 + 10 1279 c.1125C>T c.(1123-1125)atC>atT p.I375I RABGEF1_ENST00000284957.5_Silent_p.I335I|KCTD7_ENST00000451741.2_Silent_p.I335I|RABGEF1_ENST00000437078.2_Silent_p.I349I|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Silent_p.I335I|RABGEF1_ENST00000439720.2_Silent_p.I348I|RABGEF1_ENST00000450873.2_Silent_p.I335I Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AGTCTAATATCCAGTATATCA 0.502000 38 59 0 0 0.006999 0 0 BIRC6 57448 broad.mit.edu 37 2 32666457 32666457 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:32666457C>T ENST00000421745.2 + 17 4005 c.3871C>T c.(3871-3873)Cgg>Tgg p.R1291W NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1291 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGAAAACCTCCGGGGCTGTGA 0.303000 27 23 0 0 0.007291 0 0 CNST 163882 broad.mit.edu 37 1 246811001 246811001 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:246811001C>T ENST00000366513.4 + 9 1767 c.1498C>T c.(1498-1500)Cag>Tag p.Q500* CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Nonsense_Mutation_p.Q500* NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 500 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 ACCACAGGCGCAGGCTGACTC 0.473000 33 50 0 0 0.002096 0 0 DICER1 23405 broad.mit.edu 37 14 95596409 95596409 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:95596409G>A ENST00000526495.1 - 7 850 c.559C>T c.(559-561)Cga>Tga p.R187* DICER1_ENST00000343455.3_Nonsense_Mutation_p.R187*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.R187*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.R187*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.R187* Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 187 Helicase ATP-binding. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ATAATTTCTCGATAGGGGTGG 0.328000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 8 25 0 0 0.006214 0 0 ANKHD1 54882 broad.mit.edu 37 5 139866626 139866626 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:139866626C>T ENST00000297183.6 + 14 2350 c.2226C>T c.(2224-2226)gcC>gcT p.A742A ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.A742A|ANKHD1_ENST00000360839.2_Silent_p.A742A NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCTCCTGCCCTTTTAGGAG 0.393000 9 49 0 0 0.004482 0 0 TAS2R42 353164 broad.mit.edu 37 12 11339232 11339232 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:11339232G>A ENST00000334266.1 - 1 311 c.312C>T c.(310-312)agC>agT p.S104S NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 104 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) AATAGAAAATGCTTAGGCAGG 0.403000 14 21 0 0 0.001855 0 0 CADPS 8618 broad.mit.edu 37 3 62503824 62503824 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:62503824C>T ENST00000383710.4 - 14 2742 c.2393_splice c.e14+1 p.R798_splice CADPS_ENST00000357948.3_Splice_Site_p.R781_splice|CADPS_ENST00000283269.9_Splice_Site_p.R798_splice NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 798 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AGATCCTTACCTAAAATGTGT 0.398000 17 63 0 0 0.006122 0 0 NPY1R 4886 broad.mit.edu 37 4 164247270 164247270 + Missense_Mutation SNP C C T rs148479836 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:164247270C>T ENST00000296533.2 - 2 968 c.437G>A c.(436-438)cGa>cAa p.R146Q NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 146 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.R146Q(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) TCTCCACCCTCGAGGGTTGAT 0.423000 23 45 0 0 0.002780 0 0 PACS1 55690 broad.mit.edu 37 11 65988193 65988193 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:65988193A>G ENST00000320580.4 + 9 1163 c.1130A>G c.(1129-1131)aAc>aGc p.N377S NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 377 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 GAGATGTACAACCCCAGCGAC 0.582000 10 43 0 0 0.000978 0 0 PTPRD 5789 broad.mit.edu 37 9 8389246 8389246 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:8389246C>T ENST00000381196.4 - 34 4915 c.4372G>A c.(4372-4374)Gaa>Aaa p.E1458K PTPRD_ENST00000397611.3_Missense_Mutation_p.E1048K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1052K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1051K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1051K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1445K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1458K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1436K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1048K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1051K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1458K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1458 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GATCTTTCTTCTAGTTTTGTC 0.388000 TSP Lung(15;0.13) 45 25 0 0 0.003610 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324085 61324085 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61324085C>T ENST00000283752.5 - 7 891 c.748G>A c.(748-750)Gaa>Aaa p.E250K SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 250 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CCATCGATTTCATTTGGCAGC 0.413000 45 34 0 0 0.003610 0 0 SLC13A1 6561 broad.mit.edu 37 7 122811947 122811947 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:122811947A>G ENST00000194130.2 - 3 279 c.240T>C c.(238-240)gcT>gcC p.A80A SLC13A1_ENST00000539873.1_Silent_p.A16A NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 80 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CCTTGAAATAAGCAGATGCCA 0.333000 21 32 0 0 0.002780 0 0 SMR3A 26952 broad.mit.edu 37 4 71232465 71232465 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:71232465C>T ENST00000226460.4 + 3 255 c.159C>T c.(157-159)ccC>ccT p.P53P NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 53 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TTCCACCACCCCATCCTCCAC 0.572000 34 54 0 0 0.003271 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477426 110477426 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:110477426C>T ENST00000378402.5 + 49 8469 c.8365C>T c.(8365-8367)Cgc>Tgc p.R2789C NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2789 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) GGCTGGCTTTCGCTGGGAACA 0.393000 HNSCC(38;0.096) 31 47 0 0 0.003271 0 0 HELZ2 85441 broad.mit.edu 37 20 62192594 62192594 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:62192594G>A ENST00000467148.1 - 14 7056 c.6987C>T c.(6985-6987)ttC>ttT p.F2329F HELZ2_ENST00000427522.2_Silent_p.F1760F NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGTCCAGCTCGAACTTCCGAG 0.632000 35 46 0 0 0.005524 0 0 OR6K6 128371 broad.mit.edu 37 1 158725232 158725232 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158725232C>T ENST00000368144.2 + 1 723 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TCTGTGATTTCACACCTGTGC 0.502000 21 42 0 0 0.008871 0 0 OR5F1 338674 broad.mit.edu 37 11 55761697 55761697 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55761697G>A ENST00000278409.1 - 1 404 c.405C>T c.(403-405)atC>atT p.I135I NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) TCCTGGACATGATCAAGGAGT 0.507000 19 28 0 0 0.007413 0 0 CSTF1 1477 broad.mit.edu 37 20 54972519 54972519 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:54972519C>T ENST00000217109.4 + 3 778 c.426C>T c.(424-426)gcC>gcT p.A142A CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 142 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) GGATGTTGGCCAAAAGTGCCA 0.408000 28 46 0 0 0.001786 0 0 OR51I1 390063 broad.mit.edu 37 11 5462089 5462089 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5462089G>A ENST00000380211.1 - 1 655 c.656C>T c.(655-657)tCc>tTc p.S219F AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 219 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) CAATGCGTAGGAAAGCAGGAT 0.473000 13 16 0 0 0.001368 0 0 CRB2 286204 broad.mit.edu 37 9 126132723 126132723 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:126132723G>A ENST00000373631.3 + 7 1392 c.1391G>A c.(1390-1392)aGg>aAg p.R464K CRB2_ENST00000373629.2_Missense_Mutation_p.R132K|CRB2_ENST00000359999.3_Missense_Mutation_p.R464K NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 464 Laminin G-like 1. 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 CTGGCACTGAGGTTTCGCACC 0.607000 9 14 0 0 0.004482 0 0 MTMR8 55613 broad.mit.edu 37 X 63574716 63574716 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:63574716C>T ENST00000374852.3 - 4 476 c.409G>A c.(409-411)Ggg>Agg p.G137R MTMR8_ENST00000453546.1_Missense_Mutation_p.G137R NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 137 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CCCATACGCCCAAAGTCTGAT 0.383000 21 11 0 0 0.002780 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675049 40675049 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:40675049G>A ENST00000416151.2 + 1 128 c.13G>A c.(13-15)Gaa>Aaa p.E5K KNSTRN_ENST00000249776.8_Missense_Mutation_p.E5K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.E5K NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein GGCGGCTCCCGAAGCCCCGCC 0.582000 6 12 0 0 0.003080 0 0 HRNR 388697 broad.mit.edu 37 1 152191971 152191971 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:152191971C>T ENST00000368801.2 - 3 2209 c.2134G>A c.(2134-2136)Ggt>Agt p.G712S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 712 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTGTAACCAGAGGACTGC 0.552000 66 122 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9008192 9008192 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9008192C>T ENST00000397910.4 - 41 39563 c.39360G>A c.(39358-39360)cgG>cgA p.R13120R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13122 SEA 7. 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 AGAGACTGTTCCGGTCCAGGG 0.542000 75 129 0 0 0.003610 0 0 LMO2 4005 broad.mit.edu 37 11 33886333 33886333 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:33886333G>A ENST00000257818.2 - 5 1108 c.279C>T c.(277-279)ccC>ccT p.P93P LMO2_ENST00000395833.3_Silent_p.P24P NM_005574.3 NP_005565.2 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) 24 multicellular organismal development nucleus protein binding|zinc ion binding p.P24P(2) NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 GCAGGGATGGGGGGATCTGCA 0.617000 T TRD@ T-ALL 16 46 0 0 0.001523 0 0 ABCG1 9619 broad.mit.edu 37 21 43711712 43711712 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:43711712C>T ENST00000398437.1 + 14 2221 c.2073C>T c.(2071-2073)tcC>tcT p.S691S ABCG1_ENST00000347800.2_Silent_p.S530S|ABCG1_ENST00000340588.4_Silent_p.S653S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.S544S|ABCG1_ENST00000361802.2_Silent_p.S545S|ABCG1_ENST00000398449.3_Silent_p.S533S|ABCG1_ENST00000398457.2_Silent_p.S535S P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 545 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) CCATGACCTCCCTGGTGGCAC 0.662000 18 7 0 0 0.004990 0 0 ATRN 8455 broad.mit.edu 37 20 3541349 3541349 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:3541349G>A ENST00000262919.5 + 8 1312 c.1244G>A c.(1243-1245)gGg>gAg p.G415E ATRN_ENST00000446916.2_Missense_Mutation_p.G415E NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 415 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GATTCAACTGGGAATGTGACC 0.353000 9 7 0 0 0.008291 0 0 SCN11A 11280 broad.mit.edu 37 3 38889188 38889188 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:38889188G>A ENST00000302328.3 - 26 4571 c.4373C>T c.(4372-4374)cCt>cTt p.P1458L SCN11A_ENST00000456224.3_Missense_Mutation_p.P1420L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1458L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1458 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) GAGCGTCGGAGGGAAAGGAAT 0.493000 17 9 0 0 0.007413 0 0 BAI2 576 broad.mit.edu 37 1 32196635 32196635 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:32196635G>A ENST00000373658.3 - 29 4487 c.4146C>T c.(4144-4146)ccC>ccT p.P1382P BAI2_ENST00000440175.2_Silent_p.P991P|BAI2_ENST00000257070.4_Silent_p.P1349P|BAI2_ENST00000398556.3_Silent_p.P1297P|BAI2_ENST00000398542.1_Silent_p.P1282P|BAI2_ENST00000373655.2_Silent_p.P1382P|BAI2_ENST00000398547.1_Silent_p.P1315P|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.P1370P|BAI2_ENST00000527361.1_Silent_p.P1349P NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1382 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CAGCTCGCCGGGGGGTCCCCT 0.701000 7 13 0 0 0.003080 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188579 32188579 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:32188579C>T ENST00000375023.3 - 5 1014 c.876G>A c.(874-876)caG>caA p.Q292Q NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 292 EGF-like 7; calcium-binding (Potential). 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 CCAGCCCATCCTGGCAAGTGC 0.562000 75 174 0 0 0.003610 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590189 125590189 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:125590189C>T ENST00000504087.1 - 4 5280 c.4243G>A c.(4243-4245)Gaa>Aaa p.E1415K ANKRD50_ENST00000515641.1_Missense_Mutation_p.E1236K NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1415 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TCAGAACCTTCAATCTGAAGC 0.388000 9 36 0 0 0.000978 0 0 MAOA 4128 broad.mit.edu 37 X 43603700 43603700 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:43603700C>T ENST00000338702.3 + 15 1647 c.1524C>T c.(1522-1524)tcC>tcT p.S508S MAOA_ENST00000542639.1_Silent_p.S375S NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 508 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) TTGGATTTTCCACATCAGTAA 0.483000 29 10 0 0 0.008361 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603167 138603167 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:138603167G>A ENST00000440172.1 - 2 1253 c.1205C>T c.(1204-1206)cCt>cTt p.P402L KIAA1549_ENST00000422774.1_Missense_Mutation_p.P402L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P352L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 402 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTTGTCCACAGGACCGGGGAG 0.542000 O BRAF pilocytic astrocytoma 14 102 0 0 0.001855 0 0 ADAM18 8749 broad.mit.edu 37 8 39506020 39506020 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:39506020G>A ENST00000265707.5 + 12 1249 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K ADAM18_ENST00000379866.1_Missense_Mutation_p.E378K|ADAM18_ENST00000541111.1_Intron NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 402 Disintegrin. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GGAATCCAATGAAGAATGTGA 0.323000 14 22 0 0 0.003163 0 0 LRRC34 151827 broad.mit.edu 37 3 169526514 169526514 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:169526514G>A ENST00000522526.2 - 2 596 c.159C>T c.(157-159)ctC>ctT p.L53L LRRC34_ENST00000316515.7_Silent_p.L40L|LRRC34_ENST00000446859.1_Silent_p.L53L|LRRC34_ENST00000522830.1_5'UTR Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 40 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AATGTTTCTGGAGACCAGATT 0.294000 7 25 0 0 0.001984 0 0 GPR50-AS1 100128688 broad.mit.edu 37 X 150345100 150345100 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:150345100C>T ENST00000454196.1 - 0 541 GCACGCTTTCCTGGAGCTCCT 0.587000 15 5 0 0 0.002450 0 0 CACNA1S 779 broad.mit.edu 37 1 201028418 201028418 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:201028418G>A ENST00000362061.3 - 27 3650 c.3424C>T c.(3424-3426)Cag>Tag p.Q1142* CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.Q1142* NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1142 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) TGCTCCGACTGGTTGTAGTGC 0.572000 17 35 0 0 0.004990 0 0 RDH8 50700 broad.mit.edu 37 19 10124124 10124124 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:10124124A>G ENST00000591589.1 + 1 200 c.11A>G c.(10-12)cAg>cGg p.Q4R RDH8_ENST00000171214.1_5'UTR Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 0 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) ATGAATGGTCAGAGTCAGGTG 0.622000 20 31 0 0 0.002299 0 0 ZFR 51663 broad.mit.edu 37 5 32385616 32385616 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:32385616C>T ENST00000265069.8 - 15 2741 c.2639G>A c.(2638-2640)gGa>gAa p.G880E NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 880 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TTTCCAACCTCCTTCCCTCAT 0.373000 34 78 0 0 0.003755 0 0 SUPT16H 11198 broad.mit.edu 37 14 21834603 21834603 + Silent SNP G G A rs112444644 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:21834603G>A ENST00000216297.2 - 8 1379 c.1041C>T c.(1039-1041)aaC>aaT p.N347N NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 347 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CATACCCTAGGTTTTTGGTAA 0.393000 28 110 0 0 0.006320 0 0 F5 2153 broad.mit.edu 37 1 169509984 169509984 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:169509984G>A ENST00000367796.3 - 13 4560 c.4359C>T c.(4357-4359)ctC>ctT p.L1453L F5_ENST00000367797.3_Silent_p.L1448L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1448 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGAGATCCGGGAGAAGGGTGG 0.473000 27 38 0 0 0.004656 0 0 TEC 7006 broad.mit.edu 37 4 48147206 48147206 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:48147206G>A ENST00000381501.3 - 14 1517 c.1360C>T c.(1360-1362)Ctc>Ttc p.L454F TEC_ENST00000511471.2_5'UTR NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 454 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 CTCTGTCGGAGGAAATTCAGA 0.473000 45 85 0 0 0.008740 0 0 LRRC55 219527 broad.mit.edu 37 11 56954940 56954940 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56954940G>A ENST00000497933.1 + 2 1159 c.1012G>A c.(1012-1014)Gag>Aag p.E338K NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 308 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GGCCAGTGAAGAGGAAGAGAT 0.607000 12 28 0 0 0.001368 0 0 ARPP21 10777 broad.mit.edu 37 3 35833997 35833997 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:35833997C>T ENST00000187397.4 + 19 2612 c.2156C>T c.(2155-2157)tCc>tTc p.S719F ARPP21_ENST00000458225.1_Missense_Mutation_p.S720F|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Missense_Mutation_p.S700F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S700F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S720F NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 719 Gln-rich. 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 GTGATGGTTTCCTACCCAACA 0.463000 51 58 0 0 0.003610 0 0 GPR179 440435 broad.mit.edu 37 17 36499507 36499507 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:36499507C>T ENST00000342292.4 - 1 186 c.166G>A c.(166-168)Gcc>Acc p.A56T NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 56 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GCGGCCTCGGCCCCCTCTAGG 0.637000 15 51 0 0 0.003163 0 0 POTEG 404785 broad.mit.edu 37 14 19553734 19553734 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:19553734C>T ENST00000409832.3 + 1 370 c.318C>T c.(316-318)ttC>ttT p.F106F NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 106 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GCCACTGCTTCCCCTGCTGCA 0.607000 53 295 0 0 0.003610 0 0 TTC16 158248 broad.mit.edu 37 9 130486511 130486511 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:130486511C>T ENST00000373289.3 + 8 1065 c.985C>T c.(985-987)Cag>Tag p.Q329* TTC16_ENST00000393748.4_Nonsense_Mutation_p.Q153*|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 329 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GGCACAGCGCCAGCTGTTGCT 0.642000 23 18 0 0 0.004656 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140858107 140858107 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140858107C>T ENST00000308177.3 + 1 2528 c.2424C>T c.(2422-2424)ccC>ccT p.P808P PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCCCCTCCCGGACAGGTAA 0.517000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 9 0 0 0.001984 0 0 ZNF831 128611 broad.mit.edu 37 20 57768088 57768088 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:57768088C>T ENST00000371030.2 + 1 2014 c.2014C>T c.(2014-2016)Ccc>Tcc p.P672S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 672 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) AGGCACAGTCCCCACCCAAGA 0.622000 19 21 0 0 0.006122 0 0 GUSBP3 653188 broad.mit.edu 37 5 68902955 68902955 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:68902955G>A ENST00000510264.2 + 0 30 CTAAAGGACGGACAGAGCATT 0.393000 32 137 0 0 0.003610 0 0 INHBC 3626 broad.mit.edu 37 12 57843515 57843515 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57843515C>T ENST00000309668.2 + 2 896 c.769C>T c.(769-771)Cgt>Tgt p.R257C INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 257 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 TGTGGACTTCCGTGAGATTGG 0.562000 18 41 0 0 0.006122 0 0 ATP9B 374868 broad.mit.edu 37 18 76870473 76870473 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:76870473C>T ENST00000426216.2 + 3 429 c.412C>T c.(412-414)Caa>Taa p.Q138* ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000307671.7_Nonsense_Mutation_p.Q138*|ATP9B_ENST00000458297.2_Nonsense_Mutation_p.Q86*|ATP9B_ENST00000586722.1_Nonsense_Mutation_p.Q138* NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 138 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TATAAAAAATCAAAAATACAA 0.383000 10 18 0 0 0.001368 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30690846 30690846 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:30690846G>A ENST00000215790.7 - 6 808 c.644C>T c.(643-645)gCc>gTc p.A215V TBC1D10A_ENST00000403362.1_Missense_Mutation_p.A127V|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.A89V|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.A222V NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 215 Rab-GAP TBC. 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 GCACCAGAAGGCTTGCTGTGG 0.632000 15 29 0 0 0.004007 0 0 ALPI 248 broad.mit.edu 37 2 233322730 233322730 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:233322730G>A ENST00000295463.3 + 8 956 c.879G>A c.(877-879)acG>acA p.T293T NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 293 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCGGAGACACGAAATATGAGA 0.622000 28 28 0 0 0.006320 0 0 AXIN1 8312 broad.mit.edu 37 16 396430 396430 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:396430G>A ENST00000262320.3 - 2 967 c.596C>T c.(595-597)cCc>cTc p.P199L AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.P199L NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 199 RGS. 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) AAGGAAGGAGGGATAGGTGTT 0.507000 OREG0003698 type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 38 34 0 0 0.006230 0 0 PAPPA 5069 broad.mit.edu 37 9 118974146 118974146 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:118974146G>A ENST00000328252.3 + 4 2222 c.1853G>A c.(1852-1854)gGa>gAa p.G618E PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 618 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 CCAGGGCCAGGAAATGACACC 0.532000 97 69 0 0 0.003610 0 0 C15orf37 283687 broad.mit.edu 37 15 80215371 80215371 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:80215371G>A ENST00000560255.1 + 1 259 c.256G>A c.(256-258)Gag>Aag p.E86K ST20_ENST00000485386.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron chromosome 15 open reading frame 37 kidney(1)|lung(1)|stomach(1) 3 AGTACCCGCCGAGAGCGGACC 0.672000 11 11 0 0 0.000978 0 0 EXOC6 54536 broad.mit.edu 37 10 94733941 94733941 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:94733941C>T ENST00000371552.4 + 18 1919 c.1890C>T c.(1888-1890)gaC>gaT p.D630D EXOC6_ENST00000260762.6_Silent_p.D635D|EXOC6_ENST00000443748.2_Silent_p.D532D|EXOC6_ENST00000371547.4_Silent_p.D651D NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 635 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) ATTTAATGGACCTTATAAATT 0.299000 86 352 0 0 0.003610 0 0 XCL1 6375 broad.mit.edu 37 1 168549308 168549308 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:168549308G>A ENST00000367818.3 + 2 234 c.69G>A c.(67-69)ggG>ggA p.G23G NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 23 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) CAGGTGTAGGGAGTGAAGTCT 0.433000 35 42 0 0 0.004289 0 0 ZNF112 7665 broad.mit.edu 37 19 44832211 44832211 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:44832211G>A ENST00000354340.4 - 4 2150 c.2099C>T c.(2098-2100)tCa>tTa p.S700L ZNF112_ENST00000337401.4_Missense_Mutation_p.S706L|ZNF112_ENST00000536500.1_Missense_Mutation_p.S723L NM_013380.3 NP_037512.3 zinc finger protein 112 CTGAAGGTATGATCTCTGACT 0.463000 26 52 0 0 0.003954 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558802 140558802 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140558802C>A ENST00000239444.2 + 1 1432 c.1187C>A c.(1186-1188)tCt>tAt p.S396Y NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 396 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTGAAATCTTCTGTGGGG 0.453000 25 147 7.87624e-14 8.78831e-14 0.002780 1 0 GTPBP10 85865 broad.mit.edu 37 7 90003662 90003662 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:90003662C>T ENST00000222511.6 + 6 651 c.585C>T c.(583-585)ttC>ttT p.F195F GTPBP10_ENST00000257659.8_Silent_p.F116F NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 195 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10 ACAGTGATTTCAAACAGGTAG 0.318000 21 57 0 0 0.002780 0 0 ABCC6 368 broad.mit.edu 37 16 16297280 16297280 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:16297280G>A ENST00000205557.7 - 8 1014 c.985C>T c.(985-987)Ccc>Tcc p.P329S ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 329 ABC transmembrane type-1 1. 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) AGCAGCTTGGGGACAGTGAAC 0.597000 21 65 0 0 0.003330 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:140481411C>T ENST00000288602.6 - 11 1457 c.1397G>A c.(1396-1398)gGa>gAa p.G466E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 466 Protein kinase. G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(15)|p.G466E(5)|p.G466A(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCCAAATGATCCAGATCCAAT 0.378000 G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 37 70 0 0 0.006230 0 0 OLFML1 283298 broad.mit.edu 37 11 7530740 7530740 + Nonsense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7530740T>A ENST00000329293.3 + 3 924 c.530T>A c.(529-531)tTa>tAa p.L177* OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Nonsense_Mutation_p.L177* NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 177 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AAGGTGTACTTATTAATTGGA 0.418000 33 58 0 0 0.002445 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130485 117130485 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:117130485T>C ENST00000310357.3 - 2 511 c.490A>G c.(490-492)Atg>Gtg p.M164V GPRC6A_ENST00000530250.1_Missense_Mutation_p.M164V|GPRC6A_ENST00000368549.3_Missense_Mutation_p.M164V NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 164 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACCTGTGGCATGAGCTGTAAA 0.423000 19 51 0 0 0.008871 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43691949 43691949 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:43691949C>T ENST00000395809.1 - 12 3902 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E466K|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E474K Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 466 cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CTGTCTTTTTCCATGTGGTTC 0.572000 29 90 0 0 0.001786 0 0 RNF213 57674 broad.mit.edu 37 17 78336975 78336975 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:78336975C>T ENST00000582970.1 + 40 11572 c.11429C>T c.(11428-11430)tCc>tTc p.S3810F CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S3859F|RNF213_ENST00000336301.6_Missense_Mutation_p.S1883F|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAAGAGGTTTCCTTACCGTGG 0.512000 35 57 0 0 0.004289 0 0 TDRD5 163589 broad.mit.edu 37 1 179609005 179609005 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:179609005C>T ENST00000444136.1 + 10 1802 c.1552C>T c.(1552-1554)Cga>Tga p.R518* TDRD5_ENST00000294848.8_Nonsense_Mutation_p.R518*|TDRD5_ENST00000367614.1_Nonsense_Mutation_p.R518* NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 518 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GGTTTCTGATCGATATGTCAT 0.383000 54 96 0 0 0.003610 0 0 SLC25A52 147407 broad.mit.edu 37 18 29339869 29339869 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29339869C>T ENST00000269205.5 - 1 974 c.786G>A c.(784-786)aaG>aaA p.K262K SLC25A52_ENST00000579441.2_Silent_p.K252K NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 252 transport integral to membrane|mitochondrial inner membrane TTTGGAAAACCTTGGGGAAAG 0.433000 23 20 0 0 0.003330 0 0 FERD3L 222894 broad.mit.edu 37 7 19184784 19184784 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:19184784C>T ENST00000275461.3 - 1 260 c.202G>A c.(202-204)Gaa>Aaa p.E68K AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 68 Poly-Glu. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 tggtccacttcgcactcctct 0.632000 20 21 0 0 0.002299 0 0 PCDH18 54510 broad.mit.edu 37 4 138452065 138452065 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:138452065C>T ENST00000344876.4 - 1 1564 c.1178G>A c.(1177-1179)gGa>gAa p.G393E PCDH18_ENST00000412923.2_Missense_Mutation_p.G393E|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G173E|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 393 Cadherin 4. 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) AACTATTTCTCCATTCAGCCC 0.353000 26 54 0 0 0.008361 0 0 CDCP2 200008 broad.mit.edu 37 1 54605545 54605545 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:54605545C>T ENST00000371330.1 - 4 1845 c.998G>A c.(997-999)gGg>gAg p.G333E NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 333 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 ACACCAATTCCCCAGCAGGGG 0.637000 19 24 0 0 0.006122 0 0 MYO5B 4645 broad.mit.edu 37 18 47428972 47428972 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:47428972C>T ENST00000285039.7 - 21 3102 c.2803G>A c.(2803-2805)Gat>Aat p.D935N MYO5B_ENST00000324581.6_Missense_Mutation_p.D76N NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 935 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) ACCTGCTCATCGATCTTCCGC 0.582000 21 54 0 0 0.001882 0 0 HRAS 3265 broad.mit.edu 37 11 533352 533352 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:533352G>A ENST00000417302.1 - 5 644 c.457C>T c.(457-459)Cgc>Tgc p.R153C HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Missense_Mutation_p.R153C|HRAS_ENST00000397596.2_Intron NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 0 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GAGCCAGAGCGGCTGCCCTGT 0.716000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 13 27 0 0 0.001368 0 0 OPRK1 4986 broad.mit.edu 37 8 54147566 54147566 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:54147566C>T ENST00000265572.3 - 3 660 c.363G>A c.(361-363)atG>atA p.M121I OPRK1_ENST00000520287.1_Missense_Mutation_p.M121I|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.M32I NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 121 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 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) GCCAGGAATTCATCAAGTAGA 0.423000 29 59 0 0 0.001786 0 0 STK31 56164 broad.mit.edu 37 7 23826183 23826183 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:23826183C>T ENST00000354639.3 + 19 2726 c.2262C>T c.(2260-2262)taC>taT p.Y754Y STK31_ENST00000433467.2_Silent_p.Y777Y|STK31_ENST00000355870.3_Silent_p.Y777Y|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.Y754Y NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 777 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAGCCACCTACCATAGAGCTT 0.423000 15 35 0 0 0.003163 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48597082 48597082 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:48597082A>G ENST00000323776.5 + 7 1141 c.979A>G c.(979-981)Act>Gct p.T327A MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Missense_Mutation_p.T290A NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 290 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) CAAGACAAAAACTCAGCGTGG 0.552000 22 32 0 0 0.001523 0 0 NR5A2 2494 broad.mit.edu 37 1 200017832 200017832 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:200017832C>T ENST00000367362.3 + 5 1242 c.996C>T c.(994-996)aaC>aaT p.N332N NR5A2_ENST00000236914.3_Silent_p.N286N|NR5A2_ENST00000544748.1_Silent_p.N260N NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 332 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) AGCAGGCTAACCGAAGCAAGC 0.478000 46 62 0 0 0.002852 0 0 MSR1 4481 broad.mit.edu 37 8 16026357 16026357 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:16026357C>T ENST00000350896.3 - 4 437 c.240G>A c.(238-240)acG>acA p.T80T MSR1_ENST00000262101.5_Silent_p.T80T|MSR1_ENST00000355282.2_Silent_p.T80T|MSR1_ENST00000381998.4_Silent_p.T80T|MSR1_ENST00000445506.2_Silent_p.T98T|MSR1_ENST00000536385.1_Intron NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 80 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AGCAATTCTTCGTTTCCCACT 0.383000 28 60 0 0 0.001786 0 0 ANKS1B 56899 broad.mit.edu 37 12 99478708 99478708 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:99478708G>A ENST00000547776.2 - 16 2619 c.2620C>T c.(2620-2622)Cca>Tca p.P874S ANKS1B_ENST00000550693.2_Missense_Mutation_p.P100S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P450S|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P100S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P874S|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P43S|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P100S|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P100S|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P69S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P100S|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P100S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 874 SAM 1. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTCACCTTTGGAAGGAGCTGG 0.418000 9 14 0 0 0.006214 0 0 REG3A 5068 broad.mit.edu 37 2 79384749 79384749 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:79384749G>A ENST00000393878.1 - 4 663 c.409C>T c.(409-411)Ccc>Tcc p.P137S REG3A_ENST00000305165.2_Missense_Mutation_p.P137S|REG3A_ENST00000409839.3_Missense_Mutation_p.P137S NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 137 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ATGGTGGAGGGATTTCTCTCC 0.547000 23 47 0 0 0.004656 0 0 HOOK3 84376 broad.mit.edu 37 8 42837793 42837793 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:42837793G>A ENST00000307602.4 + 14 1545 c.1345G>A c.(1345-1347)Gag>Aag p.E449K NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 449 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TGGAAGTCAGGAGTCTTCAGA 0.388000 T RET papillary thyroid 25 37 0 0 0.007291 0 0 CASP10 843 broad.mit.edu 37 2 202082315 202082315 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:202082315G>A ENST00000286186.6 + 10 1855 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000346817.5_Missense_Mutation_p.E431K|CASP10_ENST00000313728.7_Missense_Mutation_p.E407K NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 0 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 TTGCAGACATGAAGACATCTT 0.473000 16 26 0 0 0.004007 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578576 44578576 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:44578576G>A ENST00000289547.4 - 2 1475 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S NPC1L1_ENST00000546276.1_Missense_Mutation_p.P474S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P474S|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P474S NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 474 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) GGATTGAGGGGGGCGTAGCAG 0.597000 14 29 0 0 0.002450 0 0 SYT4 6860 broad.mit.edu 37 18 40854289 40854289 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:40854289C>T ENST00000255224.3 - 2 473 c.105G>A c.(103-105)tgG>tgA p.W35* SYT4_ENST00000590752.1_Nonsense_Mutation_p.W17*|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 35 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GACAGCAGATCCATGCAAAGA 0.403000 13 30 0 0 0.001855 0 0 KIAA0408 9729 broad.mit.edu 37 6 127775036 127775036 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:127775036C>T ENST00000483725.3 - 2 427 c.91G>A c.(91-93)Gaa>Aaa p.E31K SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 31 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CTTTCCCATTCCTTTCTTTCA 0.373000 46 69 0 0 0.002522 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034562 52034562 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52034562G>A ENST00000346477.3 - 2 347 c.279C>T c.(277-279)ttC>ttT p.F93F SIGLEC6_ENST00000391797.3_Silent_p.F93F|SIGLEC6_ENST00000343300.4_Silent_p.F93F|SIGLEC6_ENST00000359982.4_Silent_p.F93F|SIGLEC6_ENST00000425629.3_Silent_p.F93F|SIGLEC6_ENST00000436458.1_Silent_p.F57F NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 93 Ig-like V-type. 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) AGAGGAGGTGGAATCGGCCCC 0.552000 29 53 0 0 0.007291 0 0 FAM86EP 348926 broad.mit.edu 37 4 3948363 3948363 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:3948363C>T ENST00000313946.8 - 0 1232 CGGCCTCTGCCCGAGTTCCCC 0.652000 5 4 0 0 0.000602 0 0 STRA8 346673 broad.mit.edu 37 7 134939945 134939945 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:134939945G>A ENST00000275764.3 + 8 886 c.886G>A c.(886-888)Ggc>Agc p.G296S NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 296 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 CTTTTTTAAAGGCCTTAGCTG 0.463000 36 89 0 0 0.005524 0 0 HMCN1 83872 broad.mit.edu 37 1 186047260 186047260 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:186047260C>T ENST00000271588.4 + 55 8736 c.8507C>T c.(8506-8508)cCt>cTt p.P2836L HMCN1_ENST00000367492.2_Missense_Mutation_p.P2836L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2836 Ig-like C2-type 26. 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 TTGCAGATTCCTCGGGCTAAA 0.428000 12 27 0 0 0.002450 0 0 PDE1A 5136 broad.mit.edu 37 2 183070702 183070702 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:183070702C>T ENST00000435564.1 - 8 1115 c.915G>A c.(913-915)atG>atA p.M305I PDE1A_ENST00000536095.1_Missense_Mutation_p.M201I|PDE1A_ENST00000409365.1_Missense_Mutation_p.M289I|PDE1A_ENST00000358139.2_Missense_Mutation_p.M305I|PDE1A_ENST00000456212.1_Missense_Mutation_p.M305I|PDE1A_ENST00000351439.5_Missense_Mutation_p.M289I|PDE1A_ENST00000410103.1_Missense_Mutation_p.M305I|PDE1A_ENST00000331935.6_Missense_Mutation_p.M305I|PDE1A_ENST00000346717.4_Missense_Mutation_p.M271I NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 305 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.M305I(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCAAGATATTCATTTCTTCTT 0.343000 9 29 0 0 0.006214 0 0 CLCN1 1180 broad.mit.edu 37 7 143042825 143042825 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:143042825T>G ENST00000343257.2 + 17 2229 c.2142T>G c.(2140-2142)gaT>gaG p.D714E NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 714 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGGATGAGGATGAGGACGAAG 0.667000 OREG0018402 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 10 0 0 0.000602 0 0 EMR1 2015 broad.mit.edu 37 19 6906464 6906464 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:6906464G>A ENST00000312053.4 + 9 1007 c.970G>A c.(970-972)Gaa>Aaa p.E324K EMR1_ENST00000381407.5_Missense_Mutation_p.E183K|EMR1_ENST00000450315.3_Missense_Mutation_p.E147K|EMR1_ENST00000381404.4_Missense_Mutation_p.E272K|EMR1_ENST00000250572.8_Missense_Mutation_p.E324K NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 324 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CAAATGTAAGGAAGATGTGAT 0.393000 23 47 0 0 0.003330 0 0 PRB2 653247 broad.mit.edu 37 12 11546714 11546714 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:11546714C>T ENST00000389362.4 - 3 333 c.298G>A c.(298-300)Gga>Aga p.G100R PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGGTGGTCCTTGTGGCTTT 0.617000 122 419 0 0 0.003610 0 0 DMTN 2039 broad.mit.edu 37 8 21937924 21937924 + Splice_Site SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:21937924T>C ENST00000358242.3 + 12 1395 c.900_splice c.e12-1 p.L301_splice DMTN_ENST00000415253.1_Splice_Site_p.L301_splice|DMTN_ENST00000443491.2_Splice_Site_p.L276_splice|DMTN_ENST00000265800.5_Splice_Site_p.L301_splice|DMTN_ENST00000381470.3_Splice_Site_p.L301_splice|DMTN_ENST00000432128.1_Splice_Site_p.L301_splice|DMTN_ENST00000519907.1_Splice_Site_p.L301_splice|DMTN_ENST00000523266.1_Splice_Site_p.L301_splice|DMTN_ENST00000517600.1_Splice_Site_p.L261_splice|DMTN_ENST00000523782.2_Splice_Site_p.L276_splice dematin actin binding protein CCTTTCTAGCTACAGTCCACA 0.597000 31 76 0 0 0.005524 0 0 CCAR1 55749 broad.mit.edu 37 10 70515274 70515274 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:70515274C>T ENST00000265872.6 + 13 1725 c.1606C>T c.(1606-1608)Cta>Tta p.L536L CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Silent_p.L521L|CCAR1_ENST00000535016.1_Silent_p.L521L NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 536 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 AGGCATTGATCTAAGTGTGTG 0.413000 39 73 0 0 0.003214 0 0 FBN3 84467 broad.mit.edu 37 19 8176036 8176036 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:8176036G>A ENST00000600128.1 - 33 4530 c.4116C>T c.(4114-4116)ctC>ctT p.L1372L FBN3_ENST00000601739.1_Silent_p.L1372L|FBN3_ENST00000270509.2_Silent_p.L1372L Q75N90 FBN3_HUMAN fibrillin 3 1372 EGF-like 21; 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 CGTTGTCACAGAGGTCCACGT 0.657000 13 33 0 0 0.001368 0 0 LOC645166 645166 broad.mit.edu 37 1 148932901 148932901 + RNA SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:148932901C>G ENST00000539543.1 + 0 157 NR_027355.1 CAGTCTGCGGCCAAGACTCCG 0.612000 7 118 0 0 0.008291 0 0 SULT1E1 6783 broad.mit.edu 37 4 70709918 70709918 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70709918C>T ENST00000226444.3 - 7 845 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 245 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TTCATAATTTCGTCTGGCAGT 0.428000 46 106 0 0 0.003610 0 0 NLRP7 199713 broad.mit.edu 37 19 55451638 55451638 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55451638C>T ENST00000588756.1 - 6 1035 c.549G>A c.(547-549)ggG>ggA p.G183G NLRP7_ENST00000328092.5_Silent_p.G183G|NLRP7_ENST00000592784.1_Silent_p.G183G|NLRP7_ENST00000590030.1_Silent_p.G183G|NLRP7_ENST00000448121.2_Silent_p.G183G|NLRP7_ENST00000446217.1_Silent_p.G211G|NLRP7_ENST00000340844.2_Silent_p.G183G Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 183 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCGTGGTTTTCCCCACGCCTG 0.562000 37 61 0 0 0.003271 0 0 OR14J1 442191 broad.mit.edu 37 6 29275193 29275193 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:29275193C>T ENST00000377160.2 + 1 791 c.727C>T c.(727-729)Cta>Tta p.L243L NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 CCTACCACACCTATTTGTAGC 0.493000 58 106 0 0 0.003610 0 0 EPYC 1833 broad.mit.edu 37 12 91396222 91396222 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:91396222C>T ENST00000261172.3 - 2 213 c.121G>A c.(121-123)Gat>Aat p.D41N NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 41 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 TACAAATTATCCAGGTCTTCT 0.403000 38 78 0 0 0.006230 0 0 MCM10 55388 broad.mit.edu 37 10 13214476 13214476 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:13214476C>T ENST00000378694.1 + 3 525 c.450C>T c.(448-450)tcC>tcT p.S150S MCM10_ENST00000484800.2_Silent_p.S150S|MCM10_ENST00000378714.3_Silent_p.S150S Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 150 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 TGCAAAAATCCCCTGGTAAGA 0.403000 36 34 0 0 0.003271 0 0 VCAN 1462 broad.mit.edu 37 5 82815659 82815659 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:82815659G>A ENST00000265077.3 + 7 2099 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K VCAN_ENST00000512590.2_Missense_Mutation_p.E464K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E512K NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 512 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding 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) TCCTTCCAAGGAATTCCCTGT 0.378000 37 58 0 0 0.004878 0 0 CDYL2 124359 broad.mit.edu 37 16 80638340 80638340 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:80638340G>A ENST00000299564.8 - 7 1621 c.1466C>T c.(1465-1467)tCc>tTc p.S489F CDYL2_ENST00000562812.1_Missense_Mutation_p.S490F|CDYL2_ENST00000566173.1_Missense_Mutation_p.S490F|CDYL2_ENST00000563890.1_Missense_Mutation_p.S490F NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 489 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 AAGGCCTTTGGAGGAGCTCCA 0.547000 47 58 0 0 0.003214 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562252 145562252 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:145562252C>T ENST00000355594.4 + 10 2027 c.1940C>T c.(1939-1941)tCc>tTc p.S647F NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 647 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGCTACAGTCCCTGAGCCAG 0.592000 37 81 0 0 0.006230 0 0 LRP2 4036 broad.mit.edu 37 2 170063063 170063063 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:170063063G>A ENST00000263816.3 - 39 7452 c.7167C>T c.(7165-7167)ttC>ttT p.F2389F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2389 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) CAAAGATGAGGAAATTTTCTG 0.438000 28 28 0 0 0.005443 0 0 ADPRM 56985 broad.mit.edu 37 17 10608568 10608568 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10608568G>A ENST00000379774.4 + 2 416 c.325G>A c.(325-327)Gga>Aga p.G109R ADPRM_ENST00000527582.2_Missense_Mutation_p.G109R NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent TCATACATGGGGAAACCATGA 0.358000 30 17 0 0 0.008361 0 0 BAD 572 broad.mit.edu 37 11 64037604 64037604 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:64037604G>A ENST00000544785.1 - 2 393 c.393C>T c.(391-393)ttC>ttT p.F131F BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 AGGCCTGAGGGAAGTACTTCC 0.602000 8 12 0 0 0.006214 0 0 DUXA 503835 broad.mit.edu 37 19 57666724 57666724 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57666724C>T ENST00000554048.2 - 5 454 c.455G>A c.(454-456)cGa>cAa p.R152Q NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TCTAGATCTTCGATTTTGGAA 0.378000 20 35 0 0 0.002780 0 0 ETNPPL 64850 broad.mit.edu 37 4 109681429 109681429 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:109681429G>A ENST00000296486.3 - 2 244 c.90C>T c.(88-90)ccC>ccT p.P30P ETNPPL_ENST00000411864.2_Silent_p.P30P|ETNPPL_ENST00000510706.1_5'UTR|ETNPPL_ENST00000512646.1_Intron NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase CTATTTTGATGGGATCCGATG 0.428000 52 64 0 0 0.003610 0 0 DAB1 1600 broad.mit.edu 37 1 57476449 57476449 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:57476449C>T ENST00000371236.2 - 14 1850 c.1587G>A c.(1585-1587)caG>caA p.Q529Q DAB1_ENST00000420954.2_Silent_p.Q527Q|DAB1_ENST00000439789.2_Silent_p.Q443Q|DAB1_ENST00000414851.2_Silent_p.Q511Q|DAB1_ENST00000371234.4_Silent_p.Q529Q|DAB1_ENST00000371231.1_Silent_p.Q562Q|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 562 cell differentiation|nervous system development p.Q529H(1)|p.Q529Q(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TGGATGAGGCCTGTGATCCAT 0.443000 37 74 0 0 0.005524 0 0 BID 637 broad.mit.edu 37 22 18232883 18232883 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:18232883G>A ENST00000317361.7 - 2 464 c.138C>T c.(136-138)gcC>gcT p.A46A BID_ENST00000473439.1_Intron|BID_ENST00000342111.5_5'UTR|BID_ENST00000399774.3_5'UTR|BID_ENST00000551952.1_5'UTR|BID_ENST00000399767.1_Intron|BID_ENST00000399765.1_Intron NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 0 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) CACAGTCCATGGCCTGGGCAG 0.687000 15 21 0 0 0.007413 0 0 ATG4B 23192 broad.mit.edu 37 2 242590434 242590434 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:242590434C>T ENST00000405546.3 + 2 522 c.20C>T c.(19-21)aCc>aTc p.T7I ATG4B_ENST00000491867.1_3'UTR|ATG4B_ENST00000402096.1_5'UTR|ATG4B_ENST00000396411.3_5'UTR|ATG4B_ENST00000404914.3_Missense_Mutation_p.T7I|ATG4B_ENST00000474739.2_5'UTR Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 7 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) GCTACTCTGACCTACGACACT 0.423000 3 7 0 0 0.004672 0 0 RP1 6101 broad.mit.edu 37 8 55538781 55538781 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:55538781G>A ENST00000220676.1 + 4 2487 c.2339G>A c.(2338-2340)aGa>aAa p.R780K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 780 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) AGAAAATCTAGATCACTAAAT 0.294000 17 48 0 0 0.006122 0 0 PDP2 57546 broad.mit.edu 37 16 66919225 66919225 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:66919225G>A ENST00000311765.2 + 2 1372 c.1038G>A c.(1036-1038)agG>agA p.R346R PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 346 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) TCCCCTGCAGGGCCTTTGGGG 0.572000 27 26 0 0 0.005443 0 0 PDZD2 23037 broad.mit.edu 37 5 32091181 32091181 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:32091181G>A ENST00000438447.1 + 20 8015 c.7627G>A c.(7627-7629)Gga>Aga p.G2543R PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543R O15018 PDZD2_HUMAN PDZ domain containing 2 2543 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTGTCCAGGAGGAAGTGGCCC 0.577000 17 42 0 0 0.006122 0 0 ATP2B2 491 broad.mit.edu 37 3 10401739 10401739 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:10401739G>A ENST00000397077.1 - 12 2168 c.1593C>T c.(1591-1593)ttC>ttT p.F531F ATP2B2_ENST00000343816.4_Silent_p.F562F|ATP2B2_ENST00000352432.4_Silent_p.F576F|ATP2B2_ENST00000383800.4_Silent_p.F531F|ATP2B2_ENST00000360273.2_Silent_p.F576F Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 576 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 GGTCCAGCACGAAGCCCAGCA 0.627000 19 43 0 0 0.001523 0 0 TNR 7143 broad.mit.edu 37 1 175355418 175355418 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:175355418C>T ENST00000367674.1 - 8 2235 c.1527G>A c.(1525-1527)caG>caA p.Q509Q TNR_ENST00000263525.2_Silent_p.Q509Q NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 509 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GAACCAGGATCTGCGTGGGGC 0.483000 8 18 0 0 0.008291 0 0 COL17A1 1308 broad.mit.edu 37 10 105794047 105794047 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:105794047C>T ENST00000353479.5 - 52 4102 c.3812G>A c.(3811-3813)gGg>gAg p.G1271E COL17A1_ENST00000369733.3_Missense_Mutation_p.G1189E NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1271 Triple-helical region. 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) TCCCTGCGGCCCAGGAGGGCC 0.652000 3 8 0 0 0.004672 0 0 IGHD 3495 broad.mit.edu 37 14 106311954 106311954 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:106311954C>T ENST00000390556.2 - 0 56 GGGCTGTTATCCTTTGGGTGT 0.577000 31 44 0 0 0.008361 0 0 RP1L1 94137 broad.mit.edu 37 8 10469741 10469741 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:10469741C>T ENST00000382483.3 - 4 2090 c.1867G>A c.(1867-1869)Gga>Aga p.G623R NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 623 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GAAGAGGCTCCTTCCGAGTCC 0.652000 34 44 0 0 0.002445 0 0 TP53BP1 7158 broad.mit.edu 37 15 43705504 43705504 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:43705504G>A ENST00000263801.3 - 24 5355 c.5103C>T c.(5101-5103)agC>agT p.S1701S TP53BP1_ENST00000382044.4_Silent_p.S1706S|TP53BP1_ENST00000382039.3_Silent_p.S1656S|TP53BP1_ENST00000450115.2_Silent_p.S1704S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1701 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) TCTCACAGGGGCTCACAAACT 0.542000 Other conserved DNA damage response genes 10 17 0 0 0.006214 0 0 TCP11 6954 broad.mit.edu 37 6 35088804 35088804 + Silent SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:35088804C>A ENST00000311875.5 - 6 1053 c.636G>T c.(634-636)ctG>ctT p.L212L TCP11_ENST00000512012.1_Silent_p.L199L|TCP11_ENST00000373974.4_Silent_p.L166L|TCP11_ENST00000373979.2_Silent_p.L137L|TCP11_ENST00000244645.3_Silent_p.L137L|TCP11_ENST00000418521.2_Silent_p.L136L|TCP11_ENST00000412155.2_Silent_p.L161L|TCP11_ENST00000444780.2_Silent_p.L207L Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 199 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 TCATCCGGCCCAGAACCTGGA 0.448000 5 169 0.000602214 0.000664199 0.000602 1 0 FAM19A2 338811 broad.mit.edu 37 12 62147501 62147501 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:62147501A>G ENST00000416284.3 - 4 1870 c.286T>C c.(286-288)Tgc>Cgc p.C96R FAM19A2_ENST00000551619.1_Missense_Mutation_p.C96R|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 96 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TGCATATGGCACCACCATTTC 0.393000 37 58 0 0 0.002222 0 0 FAM129B 64855 broad.mit.edu 37 9 130269305 130269305 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:130269305G>C ENST00000373312.3 - 14 2273 c.2060C>G c.(2059-2061)gCc>gGc p.A687G FAM129B_ENST00000373314.3_Missense_Mutation_p.A674G NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 687 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GGCCTCGGGGGCGGCCTTAGG 0.731000 9 2 0 0 0.004482 0 0 SERPINB4 6318 broad.mit.edu 37 18 61304960 61304960 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61304960G>A ENST00000341074.5 - 8 1281 c.1166C>T c.(1165-1167)tCc>tTc p.S389F SERPINB4_ENST00000356424.6_Missense_Mutation_p.S337F NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 CATCTATGGGGATGAGAATCT 0.398000 56 46 0 0 0.003610 0 0 UBXN2A 165324 broad.mit.edu 37 2 24222604 24222604 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:24222604C>T ENST00000309033.4 + 7 891 c.647C>T c.(646-648)tCc>tTc p.S216F UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.S216F|UBXN2A_ENST00000535786.1_Missense_Mutation_p.S163F NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 216 UBX. endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 CCTCCGTTTTCCCTGGCAACA 0.383000 45 40 0 0 0.003610 0 0 MEF2C 4208 broad.mit.edu 37 5 88047715 88047715 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:88047715G>A ENST00000504921.2 - 5 1220 c.548C>T c.(547-549)tCt>tTt p.S183F MEF2C_ENST00000424173.2_Missense_Mutation_p.S181F|MEF2C_ENST00000514015.1_Missense_Mutation_p.S183F|MEF2C_ENST00000340208.5_Missense_Mutation_p.S201F|MEF2C_ENST00000510942.1_Missense_Mutation_p.S183F|MEF2C_ENST00000508569.1_Missense_Mutation_p.S183F|MEF2C_ENST00000506554.1_Missense_Mutation_p.S183F|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.S135F|MEF2C_ENST00000437473.2_Missense_Mutation_p.S183F|MEF2C_ENST00000514028.1_Missense_Mutation_p.S183F Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 183 Ser-rich. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TACACCAGGAGACATACTATT 0.478000 HNSCC(66;0.2) 83 158 0 0 0.003610 0 0 TCL6 27004 broad.mit.edu 37 14 96136862 96136862 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 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 19 29 0 0 0.008871 0 0 ZNF317 57693 broad.mit.edu 37 19 9270816 9270816 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9270816C>T ENST00000247956.6 + 7 800 c.495C>T c.(493-495)tcC>tcT p.S165S ZNF317_ENST00000360385.3_Silent_p.S133S NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GAGAGAAGTCCACTGAATACG 0.512000 19 43 0 0 0.001882 0 0 GCSAML 148823 broad.mit.edu 37 1 247712439 247712439 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:247712439A>G ENST00000366490.3 + 4 466 c.308A>G c.(307-309)aAc>aGc p.N103S GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366488.4_5'UTR germinal center-associated, signaling and motility-like TTTGGTCAGAACTTCCCCAAG 0.522000 15 23 0 0 0.004990 0 0 CARS 833 broad.mit.edu 37 11 3062193 3062193 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:3062193C>T ENST00000397114.3 - 4 485 c.109G>A c.(109-111)Ggg>Agg p.G37R CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Missense_Mutation_p.G47R|CARS_ENST00000278224.9_Missense_Mutation_p.G47R|CARS_ENST00000380525.4_Missense_Mutation_p.G130R|CARS_ENST00000401769.3_Missense_Mutation_p.G60R P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 47 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ACCTTTTTCCCATCTTGAGGT 0.493000 T ALK ALCL 19 58 0 0 0.007413 0 0 HSPA4L 22824 broad.mit.edu 37 4 128732671 128732671 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:128732671C>T ENST00000296464.3 + 12 1869 c.1458C>T c.(1456-1458)atC>atT p.I486I HSPA4L_ENST00000508776.1_Silent_p.I486I|HSPA4L_ENST00000439123.2_Silent_p.I517I|HSPA4L_ENST00000505726.1_Silent_p.I460I NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 486 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GTGTTAACATCCATGGAATCT 0.393000 23 46 0 0 0.003330 0 0 PSG6 5675 broad.mit.edu 37 19 43414942 43414942 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:43414942A>G ENST00000187910.2 - 3 561 c.496T>C c.(496-498)Tta>Cta p.L166L PSG6_ENST00000292125.2_Silent_p.L166L|PSG6_ENST00000402603.4_Silent_p.L166L NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TCACAGATTAAGCGCACAGCC 0.532000 77 145 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9076887 9076887 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9076887G>A ENST00000397910.4 - 3 10762 c.10559C>T c.(10558-10560)tCa>tTa p.S3520L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3521 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 CGCAGGAGATGAAGTCTGAGA 0.507000 61 116 0 0 0.003610 0 0 HPX 3263 broad.mit.edu 37 11 6462171 6462171 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6462171G>A ENST00000265983.3 - 1 123 c.23C>T c.(22-24)cCc>cTc p.P8L HPX_ENST00000525057.1_Intron NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 8 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) CAGTGCAACGGGTGCTCCCAG 0.577000 4 14 0 0 0.000602 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315537 30315537 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:30315537C>T ENST00000375377.1 - 3 3641 c.3540G>A c.(3538-3540)ggG>ggA p.G1180G NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1180 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 TGGTGACAACCCCGTCCACAT 0.582000 44 137 0 0 0.003610 0 0 ITGA1 3672 broad.mit.edu 37 5 52221113 52221113 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:52221113C>T ENST00000282588.6 + 19 2867 c.2409C>T c.(2407-2409)ccC>ccT p.P803P NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 803 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) TTCAGATTCCCTTTGCCAAAG 0.393000 10 37 0 0 0.006214 0 0 C2orf71 388939 broad.mit.edu 37 2 29293657 29293657 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:29293657C>T ENST00000331664.5 - 1 3470 c.3471G>A c.(3469-3471)ggG>ggA p.G1157G NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1157 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTGCTGGGTTCCCGAGAGGGC 0.622000 18 26 0 0 0.006122 0 0 SNRNP70 6625 broad.mit.edu 37 19 49611065 49611065 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:49611065C>T ENST00000598441.1 + 10 903 c.679C>T c.(679-681)Ccg>Tcg p.P227S SNRNP70_ENST00000221448.5_Intron P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 227 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 CGGCCCCTCCCCGCTTCCGCA 0.731000 4 9 0 0 0.000602 0 0 DNASE1L1 1774 broad.mit.edu 37 X 153633216 153633216 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:153633216G>A ENST00000369809.1 - 6 893 c.264C>T c.(262-264)ccC>ccT p.P88P DNASE1L1_ENST00000393638.1_Silent_p.P88P NM_001009932.1 NP_001009932.1 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 88 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters lung(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCCAGCTGGGGGCTGCTCA 0.627000 16 5 0 0 0.004990 0 0 CIDECP 152302 broad.mit.edu 37 3 10059545 10059545 + RNA SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:10059545G>C ENST00000432401.1 - 0 505 CCAGTTGAGCGTGGGGCCCCT 0.602000 12 21 0 0 0.000978 0 0 SDF4 51150 broad.mit.edu 37 1 1158713 1158713 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:1158713T>A ENST00000263741.7 - 4 780 c.488A>T c.(487-489)aAg>aTg p.K163M SDF4_ENST00000360001.6_Missense_Mutation_p.K163M|SDF4_ENST00000545427.1_Missense_Mutation_p.K163M NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 163 EF-hand 2. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AAACTTCACCTTATACTCGTC 0.517000 38 59 0 0 0.006999 0 0 OR6X1 390260 broad.mit.edu 37 11 123624553 123624553 + Missense_Mutation SNP C C T rs140203672 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:123624553C>T ENST00000327930.2 - 1 700 c.674G>A c.(673-675)cGa>cAa p.R225Q NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAAGGAATTCGTAGGATTGC 0.473000 24 14 0 0 0.003954 0 0 VRTN 55237 broad.mit.edu 37 14 74823753 74823753 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:74823753G>A ENST00000256362.4 + 2 508 c.267G>A c.(265-267)gcG>gcA p.A89A NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 89 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TGTTCGAGGCGGCCAGCATGC 0.647000 15 26 0 0 0.003163 0 0 ZNF229 7772 broad.mit.edu 37 19 44934400 44934400 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:44934400C>T ENST00000291187.4 - 6 860 c.538G>A c.(538-540)Gga>Aga p.G180R ZNF229_ENST00000588931.1_Missense_Mutation_p.G186R|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 186 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) GCCCAAGATCCTTGAATGGGG 0.423000 33 51 0 0 0.002096 0 0 EXOC6 54536 broad.mit.edu 37 10 94715422 94715422 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:94715422C>T ENST00000371552.4 + 17 1738 c.1709C>T c.(1708-1710)tCc>tTc p.S570F EXOC6_ENST00000260762.6_Missense_Mutation_p.S575F|EXOC6_ENST00000443748.2_Missense_Mutation_p.S472F|EXOC6_ENST00000371547.4_Missense_Mutation_p.S591F NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 575 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) ACAAATATTTCCCAAGAAACT 0.333000 83 98 0 0 0.003610 0 0 MUC21 394263 broad.mit.edu 37 6 30954633 30954633 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:30954633C>A ENST00000376296.3 + 2 922 c.681C>A c.(679-681)aaC>aaA p.N227K MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 227 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CAGCCACCAACTCTGAGTCCA 0.627000 71 136 1.37693e-34 1.54563e-34 0.003610 1 0 GLI3 2737 broad.mit.edu 37 7 42012223 42012223 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:42012223G>A ENST00000395925.3 - 13 1900 c.1816C>T c.(1816-1818)Cca>Tca p.P606S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 606 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 CACACATATGGTTTCTGCCAA 0.468000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 16 14 0 0 0.003163 0 0 MYCBP2 23077 broad.mit.edu 37 13 77730262 77730262 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:77730262A>G ENST00000407578.2 - 46 7112 c.6846T>C c.(6844-6846)ggT>ggC p.G2282G MYCBP2_ENST00000357337.6_Silent_p.G2244G|MYCBP2_ENST00000544440.2_Silent_p.G2244G|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGGTAGGCCAACCACAACGAA 0.373000 21 42 0 0 0.001882 0 0 LUZP2 338645 broad.mit.edu 37 11 24753697 24753697 + Translation_Start_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:24753697G>A ENST00000533227.1 + 0 243 LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.D72N NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TGCCAAAACTGATGTTCAGAA 0.338000 4 18 0 0 0.001984 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102483792 102483792 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:102483792G>T ENST00000360184.4 + 40 8292 c.8128G>T c.(8128-8130)Ggg>Tgg p.G2710W NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2710 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCAGTTTGTTGGGGCTTGTAA 0.522000 32 54 2.08457e-15 2.32875e-15 0.002096 1 0 DDX60 55601 broad.mit.edu 37 4 169176899 169176899 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:169176899G>A ENST00000393743.3 - 26 3811 c.3520C>T c.(3520-3522)Cga>Tga p.R1174* DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1174 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) TTAACTTTTCGAAGTTTGTTA 0.373000 10 38 0 0 0.000978 0 0 AREL1 9870 broad.mit.edu 37 14 75134175 75134175 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:75134175G>A ENST00000356357.4 - 16 2552 c.2037C>T c.(2035-2037)ttC>ttT p.F679F AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 CACCTTTTAGGAAATGTTCCA 0.433000 31 70 0 0 0.002836 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024564 55024564 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:55024564C>T ENST00000324000.3 + 3 2757 c.723C>T c.(721-723)gcC>gcT p.A241A NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 241 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TTGACGGGGCCATTCTTTGGA 0.413000 20 42 0 0 0.008871 0 0 NCMAP 400746 broad.mit.edu 37 1 24932237 24932237 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:24932237G>A ENST00000374392.2 + 4 374 c.308G>A c.(307-309)tGa>tAa p.*103* NCMAP_ENST00000486262.1_3'UTR NM_001010980.4 NP_001010980.1 noncompact myelin associated protein GAGACGCGATGACCTCTACCC 0.582000 12 44 0 0 0.001368 0 0 LRAT 9227 broad.mit.edu 37 4 155665582 155665582 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:155665582G>A ENST00000336356.3 + 2 357 c.104G>A c.(103-105)gGg>gAg p.G35E LRAT_ENST00000507827.1_Missense_Mutation_p.G35E NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 35 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GAAGACAAAGGGAGGAACAGT 0.557000 25 43 0 0 0.002780 0 0 PRKCB 5579 broad.mit.edu 37 16 24166021 24166021 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:24166021G>A ENST00000303531.7 + 10 1234 c.1082G>A c.(1081-1083)cGa>cAa p.R361Q PRKCB_ENST00000321728.7_Missense_Mutation_p.R361Q NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 361 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTTTCAGAACGAAAAGGCACA 0.507000 7 32 0 0 0.000978 0 0 ASB17 127247 broad.mit.edu 37 1 76397793 76397793 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:76397793C>T ENST00000284142.6 - 1 323 c.184G>A c.(184-186)Ggt>Agt p.G62S NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 62 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 GCGTCAAAACCATCCAAGTCC 0.403000 52 69 0 0 0.003610 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784004 140784004 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140784004C>T ENST00000573521.1 + 1 1485 c.1485C>T c.(1483-1485)acC>acT p.T495T PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_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) CAGAGGATACCATCCAAGGGT 0.458000 27 36 0 0 0.004656 0 0 LNPEP 4012 broad.mit.edu 37 5 96320900 96320900 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:96320900C>T ENST00000231368.5 + 3 1669 c.977C>T c.(976-978)aCc>aTc p.T326I LNPEP_ENST00000395770.3_Missense_Mutation_p.T312I NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 326 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GAGCAATACACCGCTTTATCA 0.378000 30 67 0 0 0.001786 0 0 PLB1 151056 broad.mit.edu 37 2 28843772 28843772 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:28843772C>T ENST00000422425.2 + 48 3465 c.3421C>T c.(3421-3423)Ctc>Ttc p.L1141F PLB1_ENST00000327757.5_Missense_Mutation_p.L1152F|PLB1_ENST00000541605.1_Missense_Mutation_p.L117F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1152 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 p.L1141I(1)|p.L1152I(1) 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) CAACCCTTACCTCCTTGGCTT 0.552000 46 46 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25436402 25436402 + RNA SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25436402G>C ENST00000424208.1 + 0 997 SNHG14_ENST00000414175.1_RNA NR_003305.1 GACCCCAGAGGAAGACTTGCG 0.632000 3 13 0 0 0.000248 0 0 TLL1 7092 broad.mit.edu 37 4 166946521 166946521 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:166946521C>T ENST00000061240.2 + 9 1743 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S TLL1_ENST00000507499.1_Missense_Mutation_p.P366S|TLL1_ENST00000513213.1_Missense_Mutation_p.P366S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 366 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCCAGGATTTCCCAATGGCTA 0.383000 45 76 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47851488 47851488 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:47851488G>A ENST00000289672.2 - 50 7558 c.7508C>T c.(7507-7509)cCc>cTc p.P2503L C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2503 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAGGGATGAGGGGACGAGACT 0.592000 5 18 0 0 0.001168 0 0 ZNF497 162968 broad.mit.edu 37 19 58867538 58867538 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:58867538G>A ENST00000311044.3 - 3 1652 c.1464C>T c.(1462-1464)caC>caT p.H488H ZNF497_ENST00000425453.3_Silent_p.H488H|CTD-2619J13.8_ENST00000599109.1_RNA NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GCCGCTTCTGGTGCTCGTTGA 0.706000 7 22 0 0 0.006214 0 0 HDAC7 51564 broad.mit.edu 37 12 48188615 48188615 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:48188615G>A ENST00000080059.7 - 12 1385 c.1386C>T c.(1384-1386)ggC>ggT p.G462G HDAC7_ENST00000380610.4_Silent_p.G479G|HDAC7_ENST00000354334.3_Silent_p.G425G|HDAC7_ENST00000552960.1_Silent_p.G445G|HDAC7_ENST00000427332.2_Silent_p.G423G NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 423 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) TGTGCTCCAGGCCATCGTCCA 0.687000 28 63 0 0 0.005443 0 0 GDPD5 81544 broad.mit.edu 37 11 75152223 75152223 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:75152223G>A ENST00000526177.1 - 10 2922 c.1044C>T c.(1042-1044)tcC>tcT p.S348S GDPD5_ENST00000336898.3_Silent_p.S486S|GDPD5_ENST00000376282.3_Silent_p.S367S|GDPD5_ENST00000533784.1_Silent_p.S367S|GDPD5_ENST00000529721.1_Silent_p.S486S|GDPD5_ENST00000533805.1_Silent_p.S241S|GDPD5_ENST00000443276.2_3'UTR Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 486 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 TCCAGAGGGGGGAAGGCACCT 0.647000 19 9 0 0 0.007413 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74914466 74914466 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:74914466G>A ENST00000289575.5 + 13 2338 c.1943G>A c.(1942-1944)cGa>cAa p.R648Q SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R532Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R421Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R504Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R626Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R421Q NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 648 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) GACCTGCTCCGAAACCGGTGA 0.577000 47 21 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141722220 141722220 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:141722220G>A ENST00000475668.2 + 7 917 c.863G>A c.(862-864)aGa>aAa p.R288K MGAM_ENST00000549489.2_Missense_Mutation_p.R288K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 288 Maltase. 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) ATATTTAACAGAGACACAACT 0.458000 8 82 0 0 0.004482 0 0 ATG4B 23192 broad.mit.edu 37 2 242590435 242590435 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:242590435C>T ENST00000405546.3 + 2 523 c.21C>T c.(19-21)acC>acT p.T7T ATG4B_ENST00000491867.1_3'UTR|ATG4B_ENST00000402096.1_5'UTR|ATG4B_ENST00000396411.3_5'UTR|ATG4B_ENST00000404914.3_Silent_p.T7T|ATG4B_ENST00000474739.2_5'UTR Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 7 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding p.T7T(1) 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) CTACTCTGACCTACGACACTC 0.423000 3 7 0 0 0.004672 0 0 PCDH18 54510 broad.mit.edu 37 4 138452734 138452734 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:138452734G>A ENST00000344876.4 - 1 895 c.509C>T c.(508-510)tCc>tTc p.S170F PCDH18_ENST00000412923.2_Missense_Mutation_p.S170F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 170 Cadherin 2. 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) TGTGTGGAGGGAATTTTCCCC 0.458000 15 31 0 0 0.003163 0 0 ZNF582 147948 broad.mit.edu 37 19 56896278 56896278 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56896278G>A ENST00000301310.4 - 5 666 c.508C>T c.(508-510)Cct>Tct p.P170S ZNF582_ENST00000586929.1_Missense_Mutation_p.P170S NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 170 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) TACCCAAAAGGTTTTTCTCTA 0.333000 22 54 0 0 0.001882 0 0 NFATC3 4775 broad.mit.edu 37 16 68260301 68260301 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:68260301G>A ENST00000346183.3 + 10 3179 c.3155G>A c.(3154-3156)gGa>gAa p.G1052E NFATC3_ENST00000329524.4_3'UTR|NFATC3_ENST00000349223.5_3'UTR|NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.10_ENST00000571975.1_RNA|RP11-96D1.11_ENST00000571197.1_RNA NM_173165.2 NP_775188.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 1052 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GTTTCCCAAGGAGCAGGGGTG 0.502000 18 59 0 0 0.001882 0 0 ATXN2L 11273 broad.mit.edu 37 16 28846987 28846987 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:28846987C>T ENST00000336783.4 + 21 2970 c.2803C>T c.(2803-2805)Cct>Tct p.P935S RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P941S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P935S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P935S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P935S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P935S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P935S NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 935 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGCCCAGTCCCCTCAGAGCAG 0.647000 12 49 0 0 0.001368 0 0 ABCB4 5244 broad.mit.edu 37 7 87069527 87069527 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:87069527C>T ENST00000265723.4 - 13 1659 c.1548G>A c.(1546-1548)atG>atA p.M516I ABCB4_ENST00000453593.1_Missense_Mutation_p.M516I|ABCB4_ENST00000545634.1_Missense_Mutation_p.M516I|ABCB4_ENST00000359206.3_Missense_Mutation_p.M516I|ABCB4_ENST00000358400.3_Missense_Mutation_p.M516I NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 516 ABC transporter 1. 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) GTGGTAATTTCATGATAAACT 0.368000 9 45 0 0 0.008291 0 0 PLXNA4 91584 broad.mit.edu 37 7 131878935 131878935 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:131878935G>A ENST00000359827.3 - 14 3704 c.2742C>T c.(2740-2742)atC>atT p.I914I PLXNA4_ENST00000321063.4_Silent_p.I914I Q9HCM2 PLXA4_HUMAN plexin A4 914 IPT/TIG 1. 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 TCTCACACACGATCCTGCAGG 0.607000 33 63 0 0 0.004289 0 0 EMP1 2012 broad.mit.edu 37 12 13367509 13367509 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:13367509T>A ENST00000256951.5 + 5 557 c.358T>A c.(358-360)Tat>Aat p.Y120N EMP1_ENST00000431267.2_Missense_Mutation_p.Y53N|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000396301.3_Silent_p.I107I NM_001423.2 NP_001414.1 P54849 EMP1_HUMAN epithelial membrane protein 1 120 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) CACTAGTCATTATGCGAATCG 0.473000 58 90 0 0 0.003610 0 0 BCL6 604 broad.mit.edu 37 3 187442854 187442854 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:187442854G>A ENST00000406870.2 - 9 2218 c.1852C>T c.(1852-1854)Cgt>Tgt p.R618C BCL6_ENST00000232014.4_Missense_Mutation_p.R618C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R562C NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 618 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) ACATGGGCACGGAGGTGGGCC 0.587000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 14 60 0 0 0.003163 0 0 SOGA3 387104 broad.mit.edu 37 6 127797415 127797415 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:127797415C>T ENST00000556132.1 - 6 2620 c.1756G>A c.(1756-1758)Gag>Aag p.E586K SOGA3_ENST00000368268.2_Missense_Mutation_p.E586K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E586K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E586K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E586K NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 586 integral to membrane p.E586*(1) AGCTTGAGCTCGGCCTCCCTA 0.557000 54 64 0 0 0.003610 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35919174 35919174 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:35919174G>A ENST00000325722.3 - 12 2131 c.1897C>T c.(1897-1899)Ctc>Ttc p.L633F KIAA0319L_ENST00000373266.4_Missense_Mutation_p.L70F|KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 633 PKD 4. 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) TTTTCCCAGAGATATGAGATA 0.428000 29 59 0 0 0.003755 0 0 KMT2D 8085 broad.mit.edu 37 12 49421009 49421009 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:49421009G>A ENST00000301067.7 - 48 14739 c.14740C>T c.(14740-14742)Ccc>Tcc p.P4914S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGCGGGGAGGGTTCTTCAGGA 0.632000 76 101 0 0 0.003610 0 0 OR6N2 81442 broad.mit.edu 37 1 158747040 158747040 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158747040G>A ENST00000339258.1 - 1 385 c.386C>T c.(385-387)cCc>cTc p.P129L NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GTAGTGGAGGGGCCGACAAAT 0.512000 29 51 0 0 0.001786 0 0 TCEA2 6919 broad.mit.edu 37 20 62698282 62698282 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:62698282G>A ENST00000395053.3 + 3 305 c.150G>A c.(148-150)ggG>ggA p.G50G TCEA2_ENST00000361317.2_Silent_p.G23G|TCEA2_ENST00000343484.5_Silent_p.G50G|TCEA2_ENST00000465111.1_3'UTR Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 50 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding p.G50G(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CCCGAGTCGGGATGTCTGTCA 0.622000 7 14 0 0 0.003080 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158580 26158580 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:26158580G>A ENST00000289316.2 + 1 207 c.183G>A c.(181-183)ggG>ggA p.G61G HIST1H2BD_ENST00000377777.4_Silent_p.G61G NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 61 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 AGGCAATGGGGATCATGAATT 0.567000 80 123 0 0 0.003610 0 0 MXRA5 25878 broad.mit.edu 37 X 3229630 3229630 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:3229630G>A ENST00000217939.6 - 7 6768 c.6614C>T c.(6613-6615)aCc>aTc p.T2205I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2205 Ig-like C2-type 6. 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) CACCACCAGGGTCCCATTGGC 0.448000 41 8 0 0 0.007835 0 0 LRRC16B 90668 broad.mit.edu 37 14 24526129 24526129 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:24526129C>T ENST00000342740.5 + 13 1112 c.958C>T c.(958-960)Cag>Tag p.Q320* LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 320 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CTCAGGGCTCCAGGCACTCGG 0.627000 11 21 0 0 0.001368 0 0 TRIML2 205860 broad.mit.edu 37 4 189012773 189012773 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:189012773G>A ENST00000512729.1 - 7 1292 c.918C>T c.(916-918)ccC>ccT p.P306P TRIML2_ENST00000326754.3_Silent_p.P331P NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 306 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TTTTCAGAGGGGGGAAGACCC 0.557000 75 137 0 0 0.003610 0 0 C6orf118 168090 broad.mit.edu 37 6 165715373 165715373 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:165715373G>A ENST00000543069.1 - 2 707 c.126C>T c.(124-126)ttC>ttT p.F42F C6orf118_ENST00000230301.8_Silent_p.F146F Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 146 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCACTGGAAGGAAATCCTCCT 0.627000 49 86 0 0 0.003610 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45642860 45642860 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:45642860G>A ENST00000427229.2 + 0 19 CACCTCCTAGGAAATATGCAG 0.428000 3 15 0 0 0.004672 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149857848 149857848 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:149857848C>T ENST00000369155.2 - 1 384 c.343G>A c.(343-345)Ggc>Agc p.G115S NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 115 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCCTTGGTGCCCTCGGACACG 0.672000 16 38 0 0 0.004007 0 0 EFS 10278 broad.mit.edu 37 14 23829917 23829917 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:23829917G>A ENST00000216733.3 - 2 751 c.144C>T c.(142-144)ctC>ctT p.L48L EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Intron NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 48 SH3. 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) GTAGGGAGCAGAGGCACCAGC 0.672000 22 42 0 0 0.002299 0 0 TFRC 7037 broad.mit.edu 37 3 195798339 195798339 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:195798339C>T ENST00000360110.4 - 6 784 c.615G>A c.(613-615)aaG>aaA p.K205K TFRC_ENST00000420415.1_Silent_p.K124K|TFRC_ENST00000392396.3_Silent_p.K205K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 205 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) GTCTACCGTTCTTATCAACTA 0.388000 T BCL6 NHL 27 43 0 0 0.006320 0 0 OR7D4 125958 broad.mit.edu 37 19 9324628 9324628 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9324628C>T ENST00000308682.2 - 1 914 c.886G>A c.(886-888)Gat>Aat p.D296N NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 CCCTTCACATCCTTGTTCCTC 0.567000 5 53 0 0 0.003080 0 0 TAAR2 9287 broad.mit.edu 37 6 132938780 132938780 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:132938780C>T ENST00000275191.2 - 1 537 c.430G>A c.(430-432)Gag>Aag p.E144K TAAR2_ENST00000537809.1_Missense_Mutation_p.E144K|TAAR2_ENST00000367931.1_Missense_Mutation_p.E189K NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 189 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) TCATAGCCCTCTATTCCATCT 0.483000 26 32 0 0 0.007291 0 0 TACR3 6870 broad.mit.edu 37 4 104577409 104577409 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:104577409C>T ENST00000304883.2 - 3 970 c.830G>A c.(829-831)gGa>gAa p.G277E NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 277 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) TGGGATTTCTCCTCCCCAGAG 0.398000 44 87 0 0 0.003214 0 0 ADRBK1 156 broad.mit.edu 37 11 67052417 67052417 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:67052417C>T ENST00000308595.5 + 19 2044 c.1754C>T c.(1753-1755)cCc>cTc p.P585L ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 585 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TACCTGTTCCCCAACCGCCTC 0.687000 8 10 0 0 0.008291 0 0 SCN1A 6323 broad.mit.edu 37 2 166848838 166848838 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:166848838C>T ENST00000423058.2 - 26 4964 c.4947G>A c.(4945-4947)ctG>ctA p.L1649L SCN1A_ENST00000375405.3_Silent_p.L1638L|SCN1A_ENST00000303395.4_Silent_p.L1649L|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L1621L NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1649 L -> Q (in FHM3). 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) CTCCTTTGATCAGACGTAGGA 0.488000 39 47 0 0 0.007835 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169104 50169104 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:50169104C>T ENST00000246785.3 + 1 282 c.24C>T c.(22-24)ttC>ttT p.F8F IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F8F|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000597198.1_5'UTR NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 8 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CTGGGCTGTTCCCGCCCCTAT 0.542000 39 63 0 0 0.003214 0 0 SRRT 51593 broad.mit.edu 37 7 100484522 100484522 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:100484522C>T ENST00000388793.4 + 14 1971 c.1751C>T c.(1750-1752)cCt>cTt p.P584L SRRT_ENST00000347433.4_Missense_Mutation_p.P585L|SRRT_ENST00000432932.1_Missense_Mutation_p.P584L|SRRT_ENST00000457580.2_Missense_Mutation_p.P585L NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 585 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGCGCTCCTCCTGAGGAGCCT 0.617000 41 70 0 0 0.002852 0 0 BRS3 680 broad.mit.edu 37 X 135570517 135570517 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:135570517C>T ENST00000370648.3 + 1 472 c.244C>T c.(244-246)Cca>Tca p.P82S NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 82 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) GCAAACAGTTCCAAATATTTT 0.408000 46 17 0 0 0.003610 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307109 120307109 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:120307109C>T ENST00000369406.3 - 2 294 c.245G>A c.(244-246)gGa>gAa p.G82E HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.G82E NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 82 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TGTATACTTTCCTGCTTCCAC 0.552000 240 415 0 0 0.003610 0 0 POLQ 10721 broad.mit.edu 37 3 121178949 121178949 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:121178949T>G ENST00000264233.5 - 25 7228 c.7100A>C c.(7099-7101)aAg>aCg p.K2367T NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2367 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTCAATCATCTTCCACTCTGC 0.428000 DNA polymerases (catalytic subunits) 38 45 0 0 0.002222 0 0 OR5D16 390144 broad.mit.edu 37 11 55606440 55606440 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55606440G>A ENST00000378396.1 + 1 213 c.213G>A c.(211-213)gtG>gtA p.V71V NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 71 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) TCTCCTTTGTGGATTTCTGCT 0.413000 37 117 0 0 0.006230 0 0 PRMT3 10196 broad.mit.edu 37 11 20424497 20424497 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:20424497C>T ENST00000331079.6 + 8 955 c.738C>T c.(736-738)ttC>ttT p.F246F PRMT3_ENST00000437750.2_Silent_p.F184F NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 246 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 ACCGAGATTTCATATACCAAA 0.353000 22 85 0 0 0.003954 0 0 TSPYL5 85453 broad.mit.edu 37 8 98288900 98288900 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:98288900T>A ENST00000322128.3 - 1 1276 c.1173A>T c.(1171-1173)aaA>aaT p.K391N NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 391 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) TTTCCTTTCCTTTCTCTACAC 0.498000 82 144 0 0 0.003610 0 0 SNTG1 54212 broad.mit.edu 37 8 51449358 51449358 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:51449358G>T ENST00000522124.1 + 11 1331 c.670G>T c.(670-672)Gat>Tat p.D224Y SNTG1_ENST00000517473.1_Missense_Mutation_p.D224Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.D224Y|SNTG1_ENST00000276467.5_Missense_Mutation_p.D224Y NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 224 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GCCCGGCACAGATTTGAGTCG 0.473000 59 115 6.00099e-30 6.72811e-30 0.003610 1 0 ZCCHC7 84186 broad.mit.edu 37 9 37126579 37126579 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:37126579C>T ENST00000336755.5 + 2 356 c.250C>T c.(250-252)Cag>Tag p.Q84* ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.Q83*|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 84 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) TGAGGTCATCCAGCTGTCAGA 0.408000 53 58 0 0 0.003610 0 0 CYP2C18 1562 broad.mit.edu 37 10 96448017 96448017 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:96448017T>G ENST00000285979.6 + 3 666 c.467T>G c.(466-468)tTg>tGg p.L156W CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.L156W 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) GTGGAGGAGTTGAGAAAAACC 0.393000 22 85 0 0 0.002780 0 0 PTPRD 5789 broad.mit.edu 37 9 8499706 8499706 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:8499706C>T ENST00000381196.4 - 22 2806 c.2263G>A c.(2263-2265)Gaa>Aaa p.E755K PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E742K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E755K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E742K|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E755K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 755 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCACCATTTTCCATCCTCACA 0.458000 TSP Lung(15;0.13) 43 41 0 0 0.003610 0 0 ADAM28 10863 broad.mit.edu 37 8 24187570 24187570 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:24187570C>T ENST00000265769.4 + 11 1155 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y ADAM28_ENST00000437154.2_Missense_Mutation_p.H349Y|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.H116Y|ADAM28_ENST00000397649.3_Missense_Mutation_p.H96Y|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 349 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.H349Y(1) 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) TGGAATGTTTCATGACGACTA 0.458000 35 61 0 0 0.003755 0 0 SLIT1 6585 broad.mit.edu 37 10 98819885 98819885 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:98819885G>A ENST00000266058.4 - 10 1217 c.972C>T c.(970-972)atC>atT p.I324I ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I324I|SLIT1_ENST00000371070.4_Silent_p.I324I NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 324 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTCCAGGAGGGATGGACTTGA 0.622000 25 30 0 0 0.004656 0 0 TPRG1 285386 broad.mit.edu 37 3 188925383 188925383 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:188925383G>A ENST00000345063.3 + 2 377 c.210_splice c.e2+1 p.R70_splice TPRG1_ENST00000433971.1_Splice_Site_p.R70_splice NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 70 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) TTGCTACACGGGTAAATTTAT 0.368000 37 46 0 0 0.006999 0 0 RP1 6101 broad.mit.edu 37 8 55542352 55542352 + Silent SNP G G A rs67738115 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:55542352G>A ENST00000220676.1 + 4 6058 c.5910G>A c.(5908-5910)gaG>gaA p.E1970E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1970 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) TCAGGGAAGAGAACAATAAAG 0.299000 23 26 0 0 0.001882 0 0 DIDO1 11083 broad.mit.edu 37 20 61511764 61511764 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:61511764G>A ENST00000266070.4 - 16 5869 c.5544C>T c.(5542-5544)ccC>ccT p.P1848P DIDO1_ENST00000395343.1_Silent_p.P1848P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1848 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCTCCCCATGGGGATCCTTGC 0.602000 42 72 0 0 0.008740 0 0 ADK 132 broad.mit.edu 37 10 75960590 75960590 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:75960590T>G ENST00000372734.3 + 2 270 c.83T>G c.(82-84)cTt>cGt p.L28R ADK_ENST00000286621.2_Missense_Mutation_p.L45R|ADK_ENST00000539909.1_Missense_Mutation_p.L45R|ADK_ENST00000541550.1_Missense_Mutation_p.L28R NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 45 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) AAAGATTTCCTTGATAAGTAA 0.328000 6 24 0 0 0.001984 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478439 14478439 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:14478439C>T ENST00000581457.1 - 0 1469 NR_024076.1 TCCCTGATATCGTGATGAACT 0.448000 5 2 0 0 0.001984 0 0 SLX4 84464 broad.mit.edu 37 16 3639678 3639678 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:3639678G>A ENST00000294008.3 - 12 4601 c.3961C>T c.(3961-3963)Ccg>Tcg p.P1321S NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1321 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CATGAGGACGGTGTCTGGGGC 0.632000 Direct reversal of damage 43 117 0 0 0.002222 0 0 KLHL6 89857 broad.mit.edu 37 3 183210292 183210292 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:183210292G>A ENST00000341319.3 - 6 1589 c.1554C>T c.(1552-1554)atC>atT p.I518I NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 518 I -> V (in dbSNP:rs35354575). breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CAACGACATAGATGCGGTCCC 0.527000 18 40 0 0 0.002780 0 0 CRAT 1384 broad.mit.edu 37 9 131857852 131857852 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:131857852C>T ENST00000318080.2 - 14 1999 c.1705G>A c.(1705-1707)Gtg>Atg p.V569M NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 569 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TCGGGGACCACGGGCCCGAAG 0.632000 5 24 0 0 0.001168 0 0 TACC2 10579 broad.mit.edu 37 10 123847306 123847306 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:123847306T>C ENST00000369005.1 + 4 5631 c.5291T>C c.(5290-5292)cTt>cCt p.L1764P TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L1764P|TACC2_ENST00000515603.1_Missense_Mutation_p.L1764P|TACC2_ENST00000453444.2_Missense_Mutation_p.L1764P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.L1764P NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1764 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACAGCTGCCCTTCATGGGGAC 0.642000 13 5 0 0 0.003163 0 0 ABCC6 368 broad.mit.edu 37 16 16297281 16297281 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:16297281G>A ENST00000205557.7 - 8 1013 c.984C>T c.(982-984)gtC>gtT p.V328V ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 328 ABC transmembrane type-1 1. 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) GCAGCTTGGGGACAGTGAACC 0.592000 21 66 0 0 0.003330 0 0 TG 7038 broad.mit.edu 37 8 134042139 134042139 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:134042139C>T ENST00000220616.4 + 41 7150 c.7110C>T c.(7108-7110)atC>atT p.I2370I TG_ENST00000377869.1_Silent_p.I2313I|TG_ENST00000542445.1_Silent_p.I740I|TG_ENST00000519543.1_Silent_p.I503I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2370 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGACCCACATCCGAGGATTTG 0.642000 8 31 0 0 0.004482 0 0 GHRHR 2692 broad.mit.edu 37 7 31009443 31009443 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:31009443G>A ENST00000409904.3 + 1 296 c.38G>A c.(37-39)gGg>gAg p.G13E GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Intron Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 0 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CTGGGGAGAGGGAAGGAGTTG 0.597000 32 59 0 0 0.003271 0 0 MYH4 4622 broad.mit.edu 37 17 10348361 10348361 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10348361G>A ENST00000255381.2 - 37 5508 c.5398C>T c.(5398-5400)Cgt>Tgt p.R1800C CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1800 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 TCATCCAGACGGAGCTGCAGA 0.562000 52 39 0 0 0.003610 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032513 21032513 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:21032513C>T ENST00000381545.3 + 11 1498 c.1279C>T c.(1279-1281)Cct>Tct p.P427S SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P427S|LST3_ENST00000540229.1_Missense_Mutation_p.P427S|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P427S NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 427 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TCTATATTTCCCTCTAATCTG 0.308000 23 46 0 0 0.005443 0 0 NPTX2 4885 broad.mit.edu 37 7 98256641 98256641 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:98256641C>T ENST00000265634.3 + 4 1218 c.1053C>T c.(1051-1053)atC>atT p.I351I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 351 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCGTGCTGATCCTTGGACAAG 0.672000 16 24 0 0 0.003163 0 0 DPYS 1807 broad.mit.edu 37 8 105459710 105459710 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:105459710G>A ENST00000351513.2 - 3 577 c.445C>T c.(445-447)Ctt>Ttt p.L149F NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 149 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCTTGCACAAGGATTTTCATT 0.363000 6 40 0 0 0.001168 0 0 DNAH5 1767 broad.mit.edu 37 5 13735322 13735322 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:13735322G>A ENST00000265104.4 - 68 11783 c.11679C>T c.(11677-11679)ttC>ttT p.F3893F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3893 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) AGGTGAACAGGAATTTGTGCT 0.433000 Kartagener syndrome 23 39 0 0 0.003954 0 0 GRIA3 2892 broad.mit.edu 37 X 122459934 122459934 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:122459934C>T ENST00000264357.5 + 4 858 c.566C>T c.(565-567)aCa>aTa p.T189I GRIA3_ENST00000371256.5_Missense_Mutation_p.T189I|GRIA3_ENST00000541091.1_Missense_Mutation_p.T173I|GRIA3_ENST00000542149.1_Missense_Mutation_p.T189I|GRIA3_ENST00000371251.1_Missense_Mutation_p.T189I NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 189 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TGGCAAGTAACAGCAAGGTCT 0.423000 11 15 0 0 0.000978 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47560288 47560288 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:47560288G>A ENST00000334194.3 + 7 826 c.823G>A c.(823-825)Gat>Aat p.D275N NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 275 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 GCTAAAACAAGATACTACTCA 0.353000 25 53 0 0 0.004289 0 0 IPO5 3843 broad.mit.edu 37 13 98654969 98654969 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:98654969C>T ENST00000261574.5 + 15 1499 c.1319C>T c.(1318-1320)gCc>gTc p.A440V IPO5_ENST00000539640.1_Missense_Mutation_p.A297V|IPO5_ENST00000490680.1_Missense_Mutation_p.A422V NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 422 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GCCTGTAATGCCGTGGGACAG 0.388000 34 53 0 0 0.006230 0 0 MICAL1 64780 broad.mit.edu 37 6 109768346 109768346 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:109768346C>T ENST00000368952.4 - 17 2504 c.2214G>A c.(2212-2214)cgG>cgA p.R738R MICAL1_ENST00000358807.3_Silent_p.R719R|MICAL1_ENST00000358577.3_Silent_p.R633R Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 719 LIM zinc-binding. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GGAAGCAGCTCCGGTGGAAGA 0.627000 30 55 0 0 0.003271 0 0 IL17RC 84818 broad.mit.edu 37 3 9960203 9960203 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:9960203C>T ENST00000295981.3 + 5 806 c.588C>T c.(586-588)gtC>gtT p.V196V IL17RC_ENST00000403601.3_Silent_p.V125V|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Silent_p.V125V|IL17RC_ENST00000413608.1_Silent_p.V125V|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000383812.4_Silent_p.V125V NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 196 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGGCCCAAGTCGTGCTCTCCT 0.642000 28 63 0 0 0.002445 0 0 CALD1 800 broad.mit.edu 37 7 134613622 134613622 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:134613622C>T ENST00000361388.2 + 4 655 c.189C>T c.(187-189)acC>acT p.T63T CALD1_ENST00000543443.1_Silent_p.T68T|CALD1_ENST00000361675.2_Silent_p.T63T|CALD1_ENST00000393118.2_Silent_p.T57T|CALD1_ENST00000417172.1_Silent_p.T63T|CALD1_ENST00000361901.2_Silent_p.T63T|CALD1_ENST00000424922.1_Silent_p.T57T|CALD1_ENST00000422748.1_Silent_p.T63T|CALD1_ENST00000495522.1_Silent_p.T57T NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 277 Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GACAGGTGACCGACCAGGTGG 0.577000 25 35 0 0 0.004656 0 0 GTF3C1 2975 broad.mit.edu 37 16 27495610 27495610 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:27495610G>A ENST00000356183.4 - 25 3938 c.3923C>T c.(3922-3924)tCt>tTt p.S1308F GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1308F NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1308 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTTATCCAAAGACTCTTCAAA 0.468000 29 37 0 0 0.007291 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773066 80773066 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:80773066C>T ENST00000466387.1 + 15 2142 c.1418C>T c.(1417-1419)cCa>cTa p.P473L CTNNA2_ENST00000361291.4_Missense_Mutation_p.P507L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P152L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P473L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P473L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P473L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P473L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 473 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.P473R(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCTGCCCGGCCACAGAGCAAA 0.512000 5 32 0 0 0.000602 0 0 NLRP11 204801 broad.mit.edu 37 19 56321348 56321348 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56321348C>T ENST00000443188.1 - 5 1338 c.628G>A c.(628-630)Ggc>Agc p.G210S NLRP11_ENST00000589824.2_Missense_Mutation_p.G210S|NLRP11_ENST00000592953.1_Missense_Mutation_p.G111S|NLRP11_ENST00000360133.3_Missense_Mutation_p.G210S|NLRP11_ENST00000589093.1_Missense_Mutation_p.G210S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 210 NACHT. ATP binding 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) GGAGCCTGGCCGTCAGGCCAG 0.488000 22 42 0 0 0.002780 0 0 IGLV3-25 28793 broad.mit.edu 37 22 23029640 23029640 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:23029640C>T ENST00000390305.2 + 0 285 GAGCGATTCTCTGGCTCCAGC 0.522000 25 51 0 0 0.003330 0 0 TMEM206 55248 broad.mit.edu 37 1 212538573 212538573 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:212538573G>T ENST00000261455.4 - 8 1174 c.1037C>A c.(1036-1038)aCg>aAg p.T346K TMEM206_ENST00000535273.1_Missense_Mutation_p.T407K NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 346 integral to membrane p.T346M(1) 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) TATGTGGCTCGTTGCCTGACC 0.413000 47 66 1.32667e-27 1.48697e-27 0.003610 1 0 C7orf31 136895 broad.mit.edu 37 7 25176401 25176401 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:25176401G>A ENST00000409280.1 - 10 1271 c.963C>T c.(961-963)ttC>ttT p.F321F C7orf31_ENST00000283905.3_Silent_p.F321F Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 321 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 AGACAGGGTGGAATTTTTCTT 0.428000 57 74 0 0 0.003610 0 0 CELSR2 1952 broad.mit.edu 37 1 109795343 109795343 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:109795343G>A ENST00000271332.3 + 1 2703 c.2642G>A c.(2641-2643)cGa>cAa p.R881Q NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 881 Cadherin 7. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) AGGCTGGATCGAGAGAACGTG 0.572000 233 142 0 0 0.003610 0 0 CACNA1C 775 broad.mit.edu 37 12 2788663 2788663 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:2788663G>A ENST00000399655.1 + 42 5410 c.5145G>A c.(5143-5145)cgG>cgA p.R1715R CACNA1C_ENST00000399591.1_Silent_p.R1723R|CACNA1C_ENST00000399621.1_Silent_p.R1734R|CACNA1C_ENST00000347598.4_Silent_p.R1763R|CACNA1C_ENST00000344100.3_Silent_p.R1756R|CACNA1C_ENST00000406454.3_Silent_p.R1715R|CACNA1C_ENST00000399606.1_Silent_p.R1735R|CACNA1C_ENST00000399603.1_Silent_p.R1715R|CACNA1C_ENST00000399637.1_Silent_p.R1734R|CACNA1C_ENST00000399595.1_Silent_p.R1723R|CACNA1C_ENST00000399638.1_Silent_p.R1743R|CACNA1C_ENST00000399649.1_Silent_p.R1721R|CACNA1C_ENST00000399634.1_Silent_p.R1715R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.R1715R|CACNA1C_ENST00000399641.1_Silent_p.R1715R|CACNA1C_ENST00000399629.1_Silent_p.R1732R|CACNA1C_ENST00000327702.7_Silent_p.R1715R|CACNA1C_ENST00000399601.1_Silent_p.R1715R|CACNA1C_ENST00000335762.5_Silent_p.R1740R|CACNA1C_ENST00000402845.3_Silent_p.R1734R|CACNA1C_ENST00000399644.1_Silent_p.R1715R|CACNA1C_ENST00000399617.1_Silent_p.R1715R 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 1763 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) GCGACGGCCGGAGCGCCTTCC 0.652000 5 11 0 0 0.000602 0 0 CASR 846 broad.mit.edu 37 3 122003081 122003081 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:122003081C>T ENST00000498619.1 + 7 2748 c.2310C>T c.(2308-2310)atC>atT p.I770I CASR_ENST00000296154.5_Silent_p.I760I|CASR_ENST00000490131.1_Silent_p.I760I NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 760 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) AGGATGAGATCATCTTCATCA 0.567000 17 15 0 0 0.006122 0 0 UNC13C 440279 broad.mit.edu 37 15 54527306 54527306 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:54527306G>A ENST00000545554.1 + 4 3150 c.3150_splice c.e4+1 p.V1050_splice UNC13C_ENST00000537900.1_Splice_Site_p.V1050_splice|UNC13C_ENST00000260323.11_Splice_Site_p.V1050_splice Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1050 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) TCCGAGATGTGGTAAGTTACA 0.378000 9 31 0 0 0.008291 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695292 64695292 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:64695292C>T ENST00000164133.2 + 4 1037 c.415C>T c.(415-417)Cgg>Tgg p.R139W NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 139 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GAATATCTTCCGGACTCTGCC 0.502000 21 62 0 0 0.002299 0 0 DUSP27 92235 broad.mit.edu 37 1 167096871 167096871 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:167096871G>A ENST00000361200.2 + 6 2669 c.2503G>A c.(2503-2505)Gaa>Aaa p.E835K DUSP27_ENST00000271385.5_Missense_Mutation_p.E835K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E835K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 835 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 GGACCTAAAGGAACTTGGCCG 0.522000 17 56 0 0 0.004990 0 0 CABS1 85438 broad.mit.edu 37 4 71201163 71201163 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:71201163C>T ENST00000273936.4 + 1 466 c.407C>T c.(406-408)tCc>tTc p.S136F NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 136 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATAGATTTTTCCACTGACATA 0.383000 21 29 0 0 0.001882 0 0 MACF1 23499 broad.mit.edu 37 1 39926464 39926464 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:39926464C>T ENST00000564288.1 + 92 22298 c.21521C>T c.(21520-21522)tCc>tTc p.S7174F MACF1_ENST00000361689.2_Missense_Mutation_p.S5115F|MACF1_ENST00000289893.4_Missense_Mutation_p.S5617F|MACF1_ENST00000539005.1_Missense_Mutation_p.S4985F|MACF1_ENST00000545844.1_Missense_Mutation_p.S5115F|MACF1_ENST00000372915.3_Missense_Mutation_p.S7073F|MACF1_ENST00000317713.7_Missense_Mutation_p.S5115F|MACF1_ENST00000567887.1_Missense_Mutation_p.S7211F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7073 C-terminal tail (By similarity).|GAR. 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) ATTTTAGCATCCAGTGAGTCT 0.438000 34 121 0 0 0.003755 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759037 121759037 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:121759037C>T ENST00000261367.7 + 6 2174 c.746C>T c.(745-747)tCc>tTc p.S249F SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S202F|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S202F|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S249F|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S249F Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 202 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGCTCATCATCCAACATGGCA 0.463000 15 73 0 0 0.004990 0 0 FAM83H 286077 broad.mit.edu 37 8 144812352 144812352 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:144812352G>A ENST00000388913.3 - 2 526 c.401C>T c.(400-402)cCc>cTc p.P134L NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 134 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 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) CTTGATACTGGGGCTGTCGGG 0.667000 12 14 0 0 0.001368 0 0 RP11-386G11.10 0 broad.mit.edu 37 12 49525184 49525184 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:49525184G>A ENST00000547712.1 + 0 211 GCACTAGGGCGGGGCCGGCGC 0.701000 4 5 0 0 0.000248 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957327 35957327 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:35957327C>T ENST00000274278.3 - 5 1395 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.V312V|UGT3A1_ENST00000503189.1_Silent_p.V346V 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 16 33 0 0 0.006122 0 0 CCP110 9738 broad.mit.edu 37 16 19539282 19539282 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:19539282C>T ENST00000396212.2 + 3 515 c.79C>T c.(79-81)Cct>Tct p.P27S CCP110_ENST00000396208.2_Missense_Mutation_p.P27S|CCP110_ENST00000381396.5_Missense_Mutation_p.P27S NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 27 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 GAGCTTTCTCCCTGCTCAGTC 0.403000 20 26 0 0 0.001523 0 0 ITGAL 3683 broad.mit.edu 37 16 30518177 30518177 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:30518177G>A ENST00000356798.6 + 21 2688 c.2508_splice c.e21+1 p.K836_splice ITGAL_ENST00000358164.5_Splice_Site_p.K752_splice|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 836 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) AGATGCTGAAGGTGGGTGAGA 0.612000 28 74 0 0 0.004656 0 0 TTC31 64427 broad.mit.edu 37 2 74717502 74717502 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:74717502C>T ENST00000410003.1 + 4 373 c.364C>T c.(364-366)Ccc>Tcc p.P122S TTC31_ENST00000233623.5_Missense_Mutation_p.P122S|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_5'UTR Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 122 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 AGAGTCTGAGCCCTGCCCTCA 0.602000 23 17 0 0 0.003330 0 0 CACNA1A 773 broad.mit.edu 37 19 13418658 13418658 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:13418658C>T ENST00000360228.5 - 15 1923 c.1924G>A c.(1924-1926)Gat>Aat p.D642N CACNA1A_ENST00000573710.2_Missense_Mutation_p.D643N NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 643 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTCCCTTCATCGAAATTAAAC 0.547000 20 49 0 0 0.002299 0 0 POM121L12 285877 broad.mit.edu 37 7 53103675 53103675 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:53103675G>A ENST00000408890.4 + 1 327 c.311G>A c.(310-312)gGg>gAg p.G104E NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 104 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCCCTTCCCGGGGAGACCGCT 0.721000 12 16 0 0 0.004007 0 0 ABCA12 26154 broad.mit.edu 37 2 215928919 215928919 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:215928919G>A ENST00000272895.7 - 3 406 c.187C>T c.(187-189)Cct>Tct p.P63S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 63 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCAGTACTAGGAAGGTTTCGA 0.423000 26 27 0 0 0.003954 0 0 LRPPRC 10128 broad.mit.edu 37 2 44153096 44153096 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:44153096G>A ENST00000260665.7 - 26 2798 c.2741C>T c.(2740-2742)cCa>cTa p.P914L NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 914 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) TCTAATCCCTGGAGTCTGTAA 0.363000 103 161 0 0 0.003610 0 0 ZIM2 23619 broad.mit.edu 37 19 57286165 57286165 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57286165C>T ENST00000391708.3 - 12 2017 c.1475G>A c.(1474-1476)aGg>aAg p.R492K AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R492K|ZIM2_ENST00000601070.1_Missense_Mutation_p.R492K|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R492K|ZIM2_ENST00000221722.5_Missense_Mutation_p.R492K|AC006115.3_ENST00000594400.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CTGGTAAGGCCTCTCTTGAGT 0.463000 11 43 0 0 0.000978 0 0 KCNC2 3747 broad.mit.edu 37 12 75434972 75434972 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:75434972A>G ENST00000341669.3 - 5 2338 c.1795T>C c.(1795-1797)Tat>Cat p.Y599H KCNC2_ENST00000550433.1_Missense_Mutation_p.Y599H|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000549446.1_3'UTR|KCNC2_ENST00000548513.1_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_3'UTR|KCNC2_ENST00000298972.1_3'UTR|RP11-81K13.1_ENST00000550049.1_RNA NM_001260498.1 NP_001247427.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 0 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AATCCATGATAAATTCTGTAC 0.378000 15 48 0 0 0.004007 0 0 CNOT6L 246175 broad.mit.edu 37 4 78650094 78650094 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:78650094G>A ENST00000504123.1 - 10 1296 c.1166C>T c.(1165-1167)gCc>gTc p.A389V CNOT6L_ENST00000264903.4_Missense_Mutation_p.A389V Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 389 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 CCTACTAGAGGCTTTCTCCAG 0.453000 59 103 0 0 0.003610 0 0 SLC26A7 115111 broad.mit.edu 37 8 92378858 92378858 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:92378858C>T ENST00000276609.3 + 14 1778 c.1539C>T c.(1537-1539)ttC>ttT p.F513F SLC26A7_ENST00000309536.2_Silent_p.F513F|SLC26A7_ENST00000523719.1_Silent_p.F513F|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 513 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity p.F513F(1) breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CGCTTGTTTTCCTGAATGCAA 0.353000 19 55 0 0 0.007413 0 0 DMXL1 1657 broad.mit.edu 37 5 118484798 118484798 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:118484798C>T ENST00000311085.8 + 18 3356 c.3276C>T c.(3274-3276)gtC>gtT p.V1092V DMXL1_ENST00000539542.1_Silent_p.V1092V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1092 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CATGTTGGGTCCTTGAGCAGA 0.373000 51 71 0 0 0.003610 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138808 126138808 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:126138808G>A ENST00000299308.3 + 9 2797 c.2789G>A c.(2788-2790)aGg>aAg p.R930K TMEM132B_ENST00000535886.1_Missense_Mutation_p.R442K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 930 integral to membrane p.R930M(1)|p.R930T(1) 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) AGACACAAAAGGTTTGCTGTG 0.502000 49 80 0 0 0.003610 0 0 PTCHD1 139411 broad.mit.edu 37 X 23412060 23412060 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:23412060C>T ENST00000379361.4 + 3 3285 c.2425C>T c.(2425-2427)Ctg>Ttg p.L809L NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 809 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TATTGTTGGTCTGATTCCTCT 0.413000 41 9 0 0 0.006230 0 0 ABCA4 24 broad.mit.edu 37 1 94471034 94471034 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:94471034G>A ENST00000370225.3 - 44 6196 c.6110C>T c.(6109-6111)gCc>gTc p.A2037V ABCA4_ENST00000535881.1_Missense_Mutation_p.A156V|ABCA4_ENST00000536513.1_Missense_Mutation_p.A307V|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2037 ABC transporter 2. 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) TCGAAGCCGGGCATAAAGGTA 0.418000 23 63 0 0 0.003330 0 0 ERV3-1 2086 broad.mit.edu 37 7 64453116 64453116 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:64453116C>T ENST00000394323.2 - 2 789 c.289G>A c.(289-291)Ggg>Agg p.G97R NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 97 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 tcctttgacccgacatgaatt 0.473000 14 28 0 0 0.002450 0 0 CNOT6L 246175 broad.mit.edu 37 4 78650093 78650093 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:78650093G>A ENST00000504123.1 - 10 1297 c.1167C>T c.(1165-1167)gcC>gcT p.A389A CNOT6L_ENST00000264903.4_Silent_p.A389A Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 389 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 GCCTACTAGAGGCTTTCTCCA 0.448000 59 105 0 0 0.003610 0 0 ATAD3A 55210 broad.mit.edu 37 1 1455661 1455661 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:1455661C>T ENST00000378755.5 + 6 893 c.799C>T c.(799-801)Cgt>Tgt p.R267C ATAD3A_ENST00000536055.1_Missense_Mutation_p.R140C|ATAD3A_ENST00000378756.3_Missense_Mutation_p.R219C NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 267 ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) GGCCGAGCACCGTCAGACCGT 0.701000 29 71 0 0 0.004878 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212709 149212709 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:149212709C>T ENST00000309241.5 + 5 1105 c.1073C>T c.(1072-1074)cCc>cTc p.P358L PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P319L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P358L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P294L NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 358 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GTCAGCAAACCCTACCGTCTG 0.632000 18 52 0 0 0.006122 0 0 RNF145 153830 broad.mit.edu 37 5 158588447 158588447 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:158588447T>A ENST00000424310.2 - 10 1812 c.1453A>T c.(1453-1455)Atg>Ttg p.M485L RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000519865.1_Missense_Mutation_p.M485L|RNF145_ENST00000520638.1_Missense_Mutation_p.M499L|RNF145_ENST00000274542.2_Missense_Mutation_p.M513L|RNF145_ENST00000518802.1_Missense_Mutation_p.M515L|RNF145_ENST00000521606.2_Missense_Mutation_p.M502L NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 485 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTGAGCCCATCACTGTCCAT 0.512000 19 43 0 0 0.007413 0 0 COL1A1 1277 broad.mit.edu 37 17 48266534 48266534 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:48266534G>A ENST00000225964.5 - 40 3050 c.2932C>T c.(2932-2934)Ccc>Tcc p.P978S NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 978 Triple-helical region. 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) CTTACAGAGGGGCCAGGAAGA 0.602000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 22 22 0 0 0.001882 0 0 PKHD1 5314 broad.mit.edu 37 6 51934295 51934295 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:51934295G>A ENST00000371117.3 - 11 1013 c.738C>T c.(736-738)atC>atT p.I246I PKHD1_ENST00000340994.4_Silent_p.I246I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 246 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) GTTTAGCACTGATCAGCCATG 0.453000 81 134 0 0 0.003610 0 0 CPA2 1358 broad.mit.edu 37 7 129909541 129909541 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:129909541G>A ENST00000222481.4 + 3 241 c.186G>A c.(184-186)ggG>ggA p.G62G NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 62 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) CCACCCCAGGGGAGACAGCCC 0.507000 10 59 0 0 0.000978 0 0 OR52B2 255725 broad.mit.edu 37 11 6190816 6190816 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6190816G>A ENST00000530810.1 - 1 822 c.741C>T c.(739-741)ctC>ctT p.L247L RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L247L(2) NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGATGACACAGAGGTGGGAGC 0.488000 30 43 0 0 0.008361 0 0 CUL2 8453 broad.mit.edu 37 10 35324198 35324198 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:35324198G>A ENST00000374748.1 - 11 1217 c.904C>T c.(904-906)Cgt>Tgt p.R302C CUL2_ENST00000374751.3_Missense_Mutation_p.R302C|CUL2_ENST00000602371.1_Missense_Mutation_p.R245C|CUL2_ENST00000374746.1_Missense_Mutation_p.R302C|CUL2_ENST00000374749.3_Missense_Mutation_p.R302C|CUL2_ENST00000374742.1_Missense_Mutation_p.R302C|CUL2_ENST00000537177.1_Missense_Mutation_p.R321C Q13617 CUL2_HUMAN cullin 2 302 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 GACACAGCACGGAGTAAGACG 0.428000 8 18 0 0 0.006214 0 0 TATDN2 9797 broad.mit.edu 37 3 10320092 10320092 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:10320092C>T ENST00000287652.4 + 6 3142 c.2091C>T c.(2089-2091)atC>atT p.I697I TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.I697I NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 697 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 TGAGGCAGATCCCACTGGAGA 0.592000 85 176 0 0 0.003610 0 0 TNXB 7148 broad.mit.edu 37 6 32065866 32065866 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:32065866G>A ENST00000375244.3 - 2 311 c.110C>T c.(109-111)cCc>cTc p.P37L TNXB_ENST00000375247.2_Missense_Mutation_p.P37L|TNXB_ENST00000479795.1_Missense_Mutation_p.P37L P22105 TENX_HUMAN tenascin XB 37 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 AGGGGGCCGGGGGGCTGGCAG 0.642000 186 246 0 0 0.003610 0 0 TIGD3 220359 broad.mit.edu 37 11 65124003 65124003 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:65124003C>T ENST00000309880.5 + 2 931 c.724C>T c.(724-726)Ccc>Tcc p.P242S NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 242 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 CCTGGGCATCCCCTGGTTAGA 0.662000 56 61 0 0 0.003610 0 0 ADH1B 125 broad.mit.edu 37 4 100231942 100231942 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:100231942G>A ENST00000305046.8 - 8 1150 c.1083C>T c.(1081-1083)gaC>gaT p.D361D ADH1B_ENST00000394887.3_Silent_p.D321D P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 361 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGAAGCAGGTCAAATCCTT 0.348000 21 64 0 0 0.001523 0 0 LTBP2 4053 broad.mit.edu 37 14 74970008 74970008 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:74970008C>T ENST00000261978.4 - 33 5188 c.4802G>A c.(4801-4803)gGg>gAg p.G1601E LTBP2_ENST00000556690.1_Missense_Mutation_p.G1557E NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1601 TB 4. 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) GGTGCGGTGCCCACGCAGGGG 0.627000 16 35 0 0 0.004990 0 0 FCGBP 8857 broad.mit.edu 37 19 40395813 40395813 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:40395813C>T ENST00000221347.6 - 15 7591 c.7584G>A c.(7582-7584)tgG>tgA p.W2528* NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2528 VWFD 6. 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) CCGTGACCTTCCACTGTCTCT 0.642000 31 145 0 0 0.003610 0 0 KITLG 4254 broad.mit.edu 37 12 88910131 88910131 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:88910131G>A ENST00000347404.5 - 5 1072 c.500C>T c.(499-501)tCa>tTa p.S167L KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.S167L|KITLG_ENST00000378535.4_5'UTR NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 167 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 ACTTAATGTTGAAGAAACCAC 0.348000 Testicular Cancer, Familial Clustering of 78 134 0 0 0.003610 0 0 KIAA0513 9764 broad.mit.edu 37 16 85100744 85100744 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:85100744C>T ENST00000566428.1 + 2 698 c.67C>T c.(67-69)Ccc>Tcc p.P23S KIAA0513_ENST00000258180.3_Missense_Mutation_p.P23S|KIAA0513_ENST00000538274.1_Missense_Mutation_p.P23S|KIAA0513_ENST00000567328.1_Missense_Mutation_p.P23S O60268 K0513_HUMAN KIAA0513 23 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) CACCTCTTCTCCCCTGGAGGC 0.647000 20 39 0 0 0.001882 0 0 MILR1 284021 broad.mit.edu 37 17 62461626 62461626 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:62461626G>A ENST00000605096.1 + 1 58 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_001085423.1 NP_001078892.1 Q7Z6M3 MILR1_HUMAN mast cell immunoglobulin-like receptor 1 0 integral to membrane|plasma membrane ATGGAAGTTGGAATCTATGCA 0.378000 7 16 0 0 0.003080 0 0 CFH 3075 broad.mit.edu 37 1 196695903 196695903 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:196695903C>T ENST00000367429.4 + 14 2309 c.2069C>T c.(2068-2070)aCc>aTc p.T690I NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 690 Sushi 12. 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 GAGGAGAGTACCTGTGGAGAT 0.338000 19 39 0 0 0.008871 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442776 25442776 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25442776C>T ENST00000424208.1 + 0 1636 SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.483000 113 197 0 0 0.003610 0 0 RBBP8 5932 broad.mit.edu 37 18 20564881 20564881 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:20564881C>T ENST00000399722.2 + 8 988 c.637C>T c.(637-639)Cca>Tca p.P213S RBBP8_ENST00000327155.5_Missense_Mutation_p.P213S|RBBP8_ENST00000399725.2_Missense_Mutation_p.P213S|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.P213S NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 213 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TTCAACTCATCCACAACATAA 0.313000 Homologous recombination 20 49 0 0 0.001523 0 0 FGF3 2248 broad.mit.edu 37 11 69625426 69625426 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:69625426C>T ENST00000334134.2 - 3 457 c.367G>A c.(367-369)Gag>Aag p.E123K NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 123 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) TAGCCCAGCTCGTGGATCCGC 0.647000 13 32 0 0 0.002450 0 0 NRG3 10718 broad.mit.edu 37 10 83635816 83635816 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:83635816C>T ENST00000404547.1 + 1 720 c.720C>T c.(718-720)ccC>ccT p.P240P NRG3_ENST00000372141.2_Silent_p.P240P P56975 NRG3_HUMAN neuregulin 3 240 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ATTCTACTCCCTCCTGGACCC 0.592000 9 5 0 0 0.001368 0 0 LRP1B 53353 broad.mit.edu 37 2 141680548 141680548 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:141680548G>A ENST00000389484.3 - 21 4276 c.3305C>T c.(3304-3306)tCc>tTc p.S1102F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1102 LDL-receptor class A 9. 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) ACTCCAACAGGAAAACTTGGT 0.443000 TSP Lung(27;0.18) 24 39 0 0 0.003954 0 0 BANK1 55024 broad.mit.edu 37 4 102946432 102946432 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:102946432G>A ENST00000504592.1 + 13 1733 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K BANK1_ENST00000428908.1_Missense_Mutation_p.E321K|BANK1_ENST00000444316.2_Missense_Mutation_p.E424K|BANK1_ENST00000322953.4_Missense_Mutation_p.E454K|BANK1_ENST00000510950.1_3'UTR|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Missense_Mutation_p.E321K Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 454 B cell activation p.E454*(1) 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) TGAGGCAAATGAAATGGAAGG 0.463000 44 67 0 0 0.003214 0 0 TDRD7 23424 broad.mit.edu 37 9 100245160 100245160 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:100245160C>T ENST00000355295.4 + 15 2737 c.2442C>T c.(2440-2442)atC>atT p.I814I TDRD7_ENST00000540902.1_Silent_p.I134I|TDRD7_ENST00000492428.1_3'UTR|TDRD7_ENST00000422139.2_Silent_p.I740I NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 814 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) CCAGAGGGATCGCACATGTTT 0.368000 23 21 0 0 0.005443 0 0 XIRP2 129446 broad.mit.edu 37 2 168096438 168096438 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:168096438C>T ENST00000409195.1 + 6 1021 c.932C>T c.(931-933)tCc>tTc p.S311F XIRP2_ENST00000409043.1_Missense_Mutation_p.S311F|XIRP2_ENST00000409756.2_Missense_Mutation_p.S311F|XIRP2_ENST00000420519.1_Missense_Mutation_p.S344F|XIRP2_ENST00000409728.1_Missense_Mutation_p.S344F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S89F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S311F|XIRP2_ENST00000409605.1_Missense_Mutation_p.S89F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 136 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 CAAGAAGGGTCCAAAGTACAG 0.403000 10 37 0 0 0.008291 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567772 45567772 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:45567772G>A ENST00000256692.5 - 0 913 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAAATATAAGGAATTCTTATT 0.328000 19 30 0 0 0.006122 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755656 140755656 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140755656C>T ENST00000517434.1 + 1 2006 c.2006C>T c.(2005-2007)cCc>cTc p.P669L PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_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) GACAGGATCCCCGACATCCTG 0.692000 28 32 0 0 0.008740 0 0 ATG2A 23130 broad.mit.edu 37 11 64668367 64668367 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:64668367G>A ENST00000421419.2 - 30 4437 c.4323C>T c.(4321-4323)caC>caT p.H1441H ATG2A_ENST00000377264.3_Silent_p.H1439H Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1439 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 TGTGGCCGGGGTGGGGGCCAA 0.657000 3 4 0 0 0.004672 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105464556 105464556 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:105464556G>A ENST00000258494.9 - 3 360 c.220C>T c.(220-222)Cct>Tct p.P74S ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 74 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TTGAACACAGGGGTCCCATCT 0.413000 38 69 0 0 0.007835 0 0 USP24 23358 broad.mit.edu 37 1 55559734 55559734 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:55559734G>A ENST00000294383.6 - 52 6229 c.6230C>T c.(6229-6231)tCa>tTa p.S2077L USP24_ENST00000407756.1_Missense_Mutation_p.S1917L NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2077 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TGACTGAGGTGAAATTTCTGG 0.433000 6 26 0 0 0.001168 0 0 ITGA4 3676 broad.mit.edu 37 2 182340013 182340013 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:182340013A>C ENST00000397033.2 + 4 984 c.554A>C c.(553-555)cAa>cCa p.Q185P ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.Q185P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 185 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) CCGTGTTATCAAGGTAAGGCA 0.353000 51 51 0 0 0.003610 0 0 LCT 3938 broad.mit.edu 37 2 136567040 136567040 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:136567040C>T ENST00000264162.2 - 8 2887 c.2877G>A c.(2875-2877)ctG>ctA p.L959L NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 959 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GATCGGCATCCAGCTGGTGAT 0.517000 25 67 0 0 0.005443 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763421 77763421 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:77763421C>T ENST00000521891.2 + 10 4712 c.4264C>T c.(4264-4266)Cgg>Tgg p.R1422W ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1396W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1377W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1377W NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1377 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) TCATGCAATTCGGGCTGCGAC 0.458000 HNSCC(33;0.089) 11 20 0 0 0.008291 0 0 SLC2A9 56606 broad.mit.edu 37 4 9828093 9828093 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:9828093C>T ENST00000506583.1 - 14 1681 c.1464G>A c.(1462-1464)agG>agA p.R488R SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 517 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 ATGCTTTGTTCCTTTTGGAAA 0.423000 50 99 0 0 0.003610 0 0 LILRA1 11024 broad.mit.edu 37 19 55105938 55105938 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55105938G>A ENST00000453777.1 + 3 237 c.67G>A c.(67-69)Gca>Aca p.A23T LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.A23T NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 23 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCACGTGCAGGCAGGTGAGTC 0.652000 26 65 0 0 0.002096 0 0 SNX19 399979 broad.mit.edu 37 11 130785161 130785161 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:130785161G>A ENST00000265909.4 - 1 1243 c.674C>T c.(673-675)cCc>cTc p.P225L SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P225L NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 225 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GTGGGGCTTGGGCACCAGCCC 0.557000 18 13 0 0 0.007413 0 0 GAS2L2 246176 broad.mit.edu 37 17 34071945 34071945 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:34071945T>C ENST00000254466.6 - 6 2598 c.2571A>G c.(2569-2571)caA>caG p.Q857Q GAS2L2_ENST00000587565.1_Silent_p.Q841Q NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 857 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) CCTCTGGAGGTTGGGGGCTGC 0.602000 13 11 0 0 0.001855 0 0 PRDM9 56979 broad.mit.edu 37 5 23527680 23527680 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:23527680G>A ENST00000296682.3 + 11 2665 c.2483G>A c.(2482-2484)gGg>gAg p.G828E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 828 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 ACACACACAGGGGAGAAGCCC 0.582000 HNSCC(3;0.000094) 48 95 0 0 0.003610 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604873 13604873 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:13604873G>A ENST00000040738.5 - 10 3786 c.3651C>T c.(3649-3651)aaC>aaT p.N1217N NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1217 DNA binding TCTCCCCAGGGTTCATTTTGG 0.398000 86 157 0 0 0.003610 0 0 MCC 4163 broad.mit.edu 37 5 112403852 112403852 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:112403852G>A ENST00000302475.4 - 11 1947 c.1384C>T c.(1384-1386)Ctc>Ttc p.L462F MCC_ENST00000515367.2_Missense_Mutation_p.L399F|MCC_ENST00000408903.3_Missense_Mutation_p.L652F|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 462 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) AGCGCCAGGAGGAGTTCGTAG 0.617000 9 26 0 0 0.006214 0 0 RGS6 9628 broad.mit.edu 37 14 72985220 72985220 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:72985220G>A ENST00000553530.1 + 15 1460 c.1253G>A c.(1252-1254)gGg>gAg p.G418E RGS6_ENST00000402788.2_Missense_Mutation_p.G418E|RGS6_ENST00000355512.6_Missense_Mutation_p.G418E|RGS6_ENST00000404301.2_Missense_Mutation_p.G418E|RGS6_ENST00000554782.1_Missense_Mutation_p.G279E|RGS6_ENST00000343854.6_Missense_Mutation_p.G381E|RGS6_ENST00000434263.2_Missense_Mutation_p.G349E|RGS6_ENST00000406236.4_Missense_Mutation_p.G418E|RGS6_ENST00000553525.1_Missense_Mutation_p.G418E|RGS6_ENST00000407322.4_Missense_Mutation_p.G418E|RGS6_ENST00000555571.1_Missense_Mutation_p.G418E|RGS6_ENST00000556437.1_Missense_Mutation_p.G418E 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 6 418 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(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) AAAGATGGAGGGAGATATACA 0.438000 19 32 0 0 0.006122 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794489 18794489 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:18794489G>A ENST00000377428.2 + 1 120 c.30G>A c.(28-30)aaG>aaA p.K10K C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 ATCAACCCAAGATCAAAGCAG 0.517000 20 40 0 0 0.002299 0 0 INTU 27152 broad.mit.edu 37 4 128564862 128564862 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:128564862C>T ENST00000335251.5 + 2 436 c.333C>T c.(331-333)ctC>ctT p.L111L INTU_ENST00000296461.5_Silent_p.L111L NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 111 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AACCCAAACTCAAGCAGTTTA 0.358000 35 57 0 0 0.002445 0 0 TLR10 81793 broad.mit.edu 37 4 38775644 38775644 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:38775644G>A ENST00000308973.4 - 4 2173 c.1568C>T c.(1567-1569)cCa>cTa p.P523L TLR10_ENST00000508334.1_Missense_Mutation_p.P523L|TLR10_ENST00000361424.2_Missense_Mutation_p.P523L|TLR10_ENST00000506111.1_Missense_Mutation_p.P523L NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 523 LRRCT. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 ACACCGGAATGGATTTCTTCC 0.393000 22 59 0 0 0.002780 0 0 CNOT6 57472 broad.mit.edu 37 5 179977003 179977003 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:179977003C>T ENST00000393356.1 + 5 609 c.185C>T c.(184-186)tCc>tTc p.S62F CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.S62F Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 62 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) AGTGACAATTCCCTGTCCCGA 0.423000 64 65 0 0 0.003610 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166037 193166037 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:193166037C>T ENST00000342695.4 - 18 2432 c.2110G>A c.(2110-2112)Gaa>Aaa p.E704K ATP13A4_ENST00000392443.3_Missense_Mutation_p.E685K NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 704 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATGAGCTCTTCCAAGACAGGT 0.403000 18 58 0 0 0.007413 0 0 KIF13A 63971 broad.mit.edu 37 6 17850608 17850608 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:17850608G>A ENST00000378814.5 - 8 662 c.663C>T c.(661-663)tcC>tcT p.S221S KIF13A_ENST00000378816.5_Silent_p.S221S|KIF13A_ENST00000378826.2_Silent_p.S221S|KIF13A_ENST00000378843.2_Silent_p.S221S|KIF13A_ENST00000259711.6_Silent_p.S221S NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 221 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ACACAGCATGGGAGCGGCTGC 0.473000 18 30 0 0 0.004990 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129205 99129205 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:99129205C>T ENST00000394170.2 + 7 2104 c.1853C>T c.(1852-1854)tCc>tTc p.S618F ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S618F|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S618F NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 618 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AGAGTGAGGTCCCACCTTGTT 0.557000 16 26 0 0 0.004990 0 0 SAMD3 154075 broad.mit.edu 37 6 130535580 130535580 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:130535580C>T ENST00000532763.1 - 3 300 c.171G>A c.(169-171)atG>atA p.M57I SAMD3_ENST00000437477.2_Missense_Mutation_p.M57I|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Missense_Mutation_p.M81I|SAMD3_ENST00000439090.2_Missense_Mutation_p.M57I|SAMD3_ENST00000368134.2_Missense_Mutation_p.M57I|SAMD3_ENST00000324172.6_Missense_Mutation_p.M57I Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 57 SAM. breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TAATTAAATCCATCAGAACAG 0.458000 28 58 0 0 0.006320 0 0 SERTM1 400120 broad.mit.edu 37 13 37269247 37269247 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:37269247C>T ENST00000315190.3 + 2 478 c.32C>T c.(31-33)tCg>tTg p.S11L NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 11 integral to membrane TCAGGATTTTCGGGAAGTGTG 0.473000 48 94 0 0 0.003610 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338967 13338967 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:13338967G>A ENST00000602906.1 + 0 755 kidney(3)|lung(1) 4 AAGCCTATTTGGACCAGAAAC 0.408000 7 29 0 0 0.001984 0 0 UGT2B15 7366 broad.mit.edu 37 4 69536055 69536055 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:69536055G>A ENST00000338206.5 - 1 291 c.282C>T c.(280-282)ctC>ctT p.L94L NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 94 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TCCATCTATCGAGAATTTTCA 0.289000 30 129 0 0 0.007291 0 0 WNT2 7472 broad.mit.edu 37 7 116955221 116955221 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:116955221C>T ENST00000265441.3 - 3 791 c.492G>A c.(490-492)ggG>ggA p.G164G AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 164 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CAAATTTGATCCCATAGTCAA 0.463000 54 78 0 0 0.003610 0 0 DBNDD1 79007 broad.mit.edu 37 16 90072785 90072785 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:90072785G>A ENST00000392973.3 - 3 1184 c.453C>T c.(451-453)gtC>gtT p.V151V DBNDD1_ENST00000002501.6_Silent_p.V145V|DBNDD1_ENST00000304733.3_Silent_p.V165V|DBNDD1_ENST00000568838.1_Silent_p.V265V Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 145 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) ACGTGTCCAGGACTGTGGCCT 0.662000 12 16 0 0 0.000978 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558431 129558431 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:129558431C>T ENST00000422113.2 - 9 3615 c.3289G>A c.(3289-3291)Gaa>Aaa p.E1097K TMEM132D_ENST00000389441.4_Missense_Mutation_p.E635K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1097 integral to membrane p.E1097K(1) 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) TACACATTTTCATGTAACCTC 0.493000 35 72 0 0 0.006999 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756815 56756815 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56756815C>T ENST00000326855.2 + 1 469 c.427C>T c.(427-429)Cgt>Tgt p.R143C NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AGTCTGCATCCGTTTGGTAGC 0.443000 37 49 0 0 0.004878 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71549866 71549866 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:71549866C>T ENST00000265382.3 + 13 1567 c.1262C>T c.(1261-1263)tCa>tTa p.S421L PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S421L NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 421 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) AAGGCCACTTCACAGGAGATT 0.438000 17 17 0 0 0.004990 0 0 MASP1 5648 broad.mit.edu 37 3 186953908 186953908 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:186953908G>A ENST00000296280.6 - 11 1976 c.1751C>T c.(1750-1752)cCc>cTc p.P584L MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.P471L|MASP1_ENST00000495249.1_5'UTR NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 579 Peptidase S1. 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) CAGCATGTGGGGGGCCGGGCC 0.617000 17 58 0 0 0.004990 0 0 NBEA 26960 broad.mit.edu 37 13 35733926 35733926 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:35733926A>G ENST00000400445.3 + 22 4152 c.3618A>G c.(3616-3618)aaA>aaG p.K1206K NBEA_ENST00000379939.2_Silent_p.K1206K|NBEA_ENST00000540320.1_Silent_p.K1206K|NBEA_ENST00000310336.4_Silent_p.K1206K NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1206 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGAAGAAAAAGAATTCAAAA 0.393000 11 16 0 0 0.008291 0 0 NCOR2 9612 broad.mit.edu 37 12 124968247 124968247 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:124968247G>A ENST00000356219.3 - 4 461 c.306C>T c.(304-306)ttC>ttT p.F102F NCOR2_ENST00000405201.1_Silent_p.F102F|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Silent_p.F102F|NCOR2_ENST00000397355.1_Silent_p.F102F|NCOR2_ENST00000404621.1_Silent_p.F102F NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 102 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) TGCTTTCAATGAACTCCATCT 0.642000 6 19 0 0 0.003080 0 0 PAGE5 90737 broad.mit.edu 37 X 55249139 55249139 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:55249139G>A ENST00000289619.5 + 4 581 c.336G>A c.(334-336)ggG>ggA p.G112G PAGE5_ENST00000374955.3_Silent_p.G92G|PAGE5_ENST00000374952.1_Silent_p.G75G NM_130467.3 NP_569734.2 Q96GU1 GGEE1_HUMAN P antigen family, member 5 (prostate associated) 112 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 TCAGGGAGGGGACTCTGCCCA 0.408000 67 14 0 0 0.003610 0 0 HDAC4 9759 broad.mit.edu 37 2 240085518 240085518 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:240085518C>T ENST00000345617.3 - 6 1383 c.592G>A c.(592-594)Gac>Aac p.D198N HDAC4_ENST00000541256.1_Missense_Mutation_p.D167N NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 198 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TAGCGAGGGTCGCTGGAAATG 0.562000 22 67 0 0 0.003330 0 0 ANPEP 290 broad.mit.edu 37 15 90342704 90342704 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:90342704C>T ENST00000300060.6 - 13 2219 c.1906G>A c.(1906-1908)Gaa>Aaa p.E636K ANPEP_ENST00000558177.1_5'UTR NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 636 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding p.E636K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CAGTTCTCTTCGTCGTAGTTC 0.587000 26 43 0 0 0.003330 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67318673 67318673 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:67318673C>T ENST00000360461.5 + 12 4285 c.1750C>T c.(1750-1752)Ccg>Tcg p.P584S PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P503S|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P584S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P584S NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 584 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GCAGGAACGCCCGGGGGTTGT 0.647000 8 14 0 0 0.003080 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20852565 20852565 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:20852565C>T ENST00000381552.1 + 2 423 c.55C>T c.(55-57)Cct>Tct p.P19S SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P19S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P19S|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P19S Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 19 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) TTCAGTGCAACCTGTTGGAAG 0.373000 13 30 0 0 0.001855 0 0 CHAF1A 10036 broad.mit.edu 37 19 4429766 4429766 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:4429766C>T ENST00000301280.5 + 10 1936 c.1835C>T c.(1834-1836)tCc>tTc p.S612F CTB-50L17.5_ENST00000590159.1_RNA NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 612 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|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGGGAGTCCCTGTCCCAC 0.542000 Chromatin Structure 45 89 0 0 0.003610 0 0 OR6C4 341418 broad.mit.edu 37 12 55945641 55945641 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:55945641C>T ENST00000394256.2 + 1 659 c.631C>T c.(631-633)Ctg>Ttg p.L211L RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TACTCTGGTGCTGGTGACACT 0.493000 31 45 0 0 0.008361 0 0 MUC16 94025 broad.mit.edu 37 19 9048675 9048675 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9048675C>T ENST00000397910.4 - 5 33159 c.32956G>A c.(32956-32958)Gga>Aga p.G10986R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10988 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 GTCACCATTCCTGGTACCTCA 0.493000 29 48 0 0 0.006320 0 0 CPNE6 9362 broad.mit.edu 37 14 24543814 24543814 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:24543814G>A ENST00000397016.2 + 7 884 c.573G>A c.(571-573)tgG>tgA p.W191* CPNE6_ENST00000537691.1_Nonsense_Mutation_p.W246*|CPNE6_ENST00000216775.2_Nonsense_Mutation_p.W191* O95741 CPNE6_HUMAN copine VI (neuronal) 191 C2 2. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) AGCTGGTCTGGAGAACTGAGG 0.517000 15 72 0 0 0.002450 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792215 137792215 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:137792215G>A ENST00000242375.3 + 7 786 c.744G>A c.(742-744)ggG>ggA p.G248G AKR1D1_ENST00000432161.1_Silent_p.G248G|AKR1D1_ENST00000411726.2_Silent_p.G207G|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 248 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 ACTCATTGGGGAAAAGGTACA 0.363000 31 46 0 0 0.003755 0 0 GLT8D2 83468 broad.mit.edu 37 12 104408855 104408855 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:104408855G>A ENST00000360814.4 - 4 453 c.48C>T c.(46-48)atC>atT p.I16I GLT8D2_ENST00000548660.1_Silent_p.I16I|GLT8D2_ENST00000547583.1_Silent_p.I16I|GLT8D2_ENST00000546436.1_Silent_p.I16I NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 16 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 AGAGGGTCACGATCAGAAGGA 0.418000 11 24 0 0 0.001368 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077104 45077104 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:45077104C>T ENST00000296130.4 + 3 477 c.297C>T c.(295-297)atC>atT p.I99I CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Silent_p.I57I NM_003278.2 NP_003269.2 P05452 TETN_HUMAN C-type lectin domain family 3, member B 99 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGACTGCATCTCGCGCGGGG 0.642000 18 38 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179454575 179454575 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179454575C>T ENST00000589042.1 - 304 62101 c.61877G>A c.(61876-61878)cGa>cAa p.R20626Q TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11686Q|TTN_ENST00000342175.6_Missense_Mutation_p.R11753Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18985Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18058Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11561Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18985 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R18056Q(1)|p.R11686Q(1)|p.R11753Q(1)|p.R11561Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTGATTAATCGTTTAGTGAC 0.398000 51 68 0 0 0.003610 0 0 FOSL2 2355 broad.mit.edu 37 2 28627159 28627159 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:28627159C>T ENST00000264716.4 + 2 1151 c.288C>T c.(286-288)gcC>gcT p.A96A FOSL2_ENST00000545753.1_Silent_p.A57A|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Silent_p.A71A NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 96 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) GACACATGGCCCTCCCAAGAC 0.637000 32 85 0 0 0.005524 0 0 MYOCD 93649 broad.mit.edu 37 17 12666806 12666806 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:12666806G>A ENST00000425538.1 + 14 3006 c.2806G>A c.(2806-2808)Gaa>Aaa p.E936K MYOCD_ENST00000343344.4_Missense_Mutation_p.E888K|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 888 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) ATCTCCCTGGGAAACCATGGA 0.547000 17 13 0 0 0.004990 0 0 CACNG3 10368 broad.mit.edu 37 16 24372902 24372902 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:24372902C>T ENST00000005284.3 + 4 1868 c.666C>T c.(664-666)gcC>gcT p.A222A NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 222 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 voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CTACTTTTGCCCGCCTCCCAC 0.527000 12 46 0 0 0.001368 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787164 73787164 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:73787164G>A ENST00000342056.2 + 4 1134 c.736G>A c.(736-738)Gac>Aac p.D246N KCNQ5_ENST00000370392.1_Missense_Mutation_p.D246N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D246N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D246N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D246N|KCNQ5_ENST00000403813.2_Missense_Mutation_p.D246N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D246N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D246N NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 246 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GGTGCGCATGGACCGAAGGGG 0.428000 12 29 0 0 0.001855 0 0 NIM1K 167359 broad.mit.edu 37 5 43246072 43246072 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:43246072C>T ENST00000512796.1 + 2 1694 c.195C>T c.(193-195)atC>atT p.I65I NIM1_ENST00000326035.2_Silent_p.I65I Q8IY84 NIM1_HUMAN 65 ATP binding|magnesium ion binding|protein serine/threonine kinase activity TGAGGGAGATCACGCTGGGGA 0.547000 42 44 0 0 0.008740 0 0 SLC26A8 116369 broad.mit.edu 37 6 35927293 35927293 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:35927293C>T ENST00000490799.1 - 16 2160 c.1807G>A c.(1807-1809)Gga>Aga p.G603R SLC26A8_ENST00000355574.2_Missense_Mutation_p.G603R|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G498R NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 603 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 ATCTTTCCTCCTTGTAGATTG 0.398000 17 89 0 0 0.007413 0 0 CFH 3075 broad.mit.edu 37 1 196654220 196654220 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:196654220C>A ENST00000367429.4 + 7 1057 c.817C>A c.(817-819)Cca>Aca p.P273T CFH_ENST00000439155.2_Missense_Mutation_p.P273T|CFH_ENST00000359637.2_Missense_Mutation_p.P209T NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 273 Sushi 5. 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 TCCTTATATTCCAAATGGTGA 0.313000 15 93 6.31663e-08 6.99575e-08 0.003163 1 0 SCN9A 6335 broad.mit.edu 37 2 167083152 167083152 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:167083152G>A ENST00000303354.6 - 24 4666 c.4326C>T c.(4324-4326)atC>atT p.I1442I AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.I1442I|SCN9A_ENST00000409672.1_Silent_p.I1430I|SCN9A_ENST00000409435.1_Silent_p.I1441I Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1441 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) ACCCAAAGATGATAAAGACGA 0.289000 3 10 0 0 0.004672 0 0 CPA6 57094 broad.mit.edu 37 8 68396080 68396080 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:68396080C>T ENST00000297770.4 - 8 976 c.761G>A c.(760-762)aGa>aAa p.R254K CPA6_ENST00000297769.4_Missense_Mutation_p.R106K|CPA6_ENST00000518549.1_Missense_Mutation_p.R254K NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 254 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CCTTGTTTTTCTCCAAAATCG 0.398000 32 99 0 0 0.002445 0 0 HSD17B14 51171 broad.mit.edu 37 19 49334994 49334994 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:49334994C>T ENST00000263278.4 - 5 566 c.300G>A c.(298-300)gaG>gaA p.E100E HSD17B14_ENST00000599157.1_Intron NM_016246.2 NP_057330.2 Q9BPX1 DHB14_HUMAN hydroxysteroid (17-beta) dehydrogenase 14 100 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity p.E100D(1) large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) CAGAGGTCTCCTCAGGCCTCT 0.632000 35 46 0 0 0.005524 0 0 SEMA4G 57715 broad.mit.edu 37 10 102740680 102740680 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:102740680C>T ENST00000210633.3 + 12 1647 c.1569C>T c.(1567-1569)ccC>ccT p.P523P MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Silent_p.P523P|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.P523P Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 523 PSI. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CCCGAGACCCCTACTGTGGCT 0.632000 58 61 0 0 0.003610 0 0 NYAP2 57624 broad.mit.edu 37 2 226447051 226447051 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:226447051C>T ENST00000272907.6 + 4 1331 c.918C>T c.(916-918)ttC>ttT p.F306F NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 306 ACTTGGACTTCGCCAAGGCCT 0.587000 11 48 0 0 0.008291 0 0 F2RL3 9002 broad.mit.edu 37 19 17001318 17001318 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:17001318G>A ENST00000248076.3 + 2 1374 c.1044G>A c.(1042-1044)agG>agA p.R348R NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 348 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCGAGTTCAGGGACAAGGTGC 0.667000 6 18 0 0 0.001984 0 0 SNCB 6620 broad.mit.edu 37 5 176053763 176053763 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:176053763C>T ENST00000310112.3 - 4 372 c.e4-1 SNCB_ENST00000393693.2_Splice_Site|SNCB_ENST00000506696.1_Splice_Site|SNCB_ENST00000510387.1_Splice_Site NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTCTTGCTTCCTGCAGGGAGA 0.577000 25 26 0 0 0.005443 0 0 FOXN1 8456 broad.mit.edu 37 17 26850995 26850995 + Missense_Mutation SNP C C T rs146091703 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:26850995C>T ENST00000226247.2 + 1 37 c.8C>T c.(7-9)tCg>tTg p.S3L FOXN1_ENST00000579795.1_Missense_Mutation_p.S3L NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 3 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GTGATGGTGTCGCTACCCCCG 0.672000 8 27 0 0 0.004482 0 0 PDE6A 5145 broad.mit.edu 37 5 149263002 149263002 + Missense_Mutation SNP C C T rs148637474 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:149263002C>T ENST00000255266.5 - 17 2244 c.2125G>A c.(2125-2127)Gaa>Aaa p.E709K NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 709 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATAACGATTTCCTTCCGTGTC 0.483000 11 13 0 0 0.000978 0 0 UGT2A2 574537 broad.mit.edu 37 4 70504957 70504957 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70504957G>A ENST00000457664.2 - 1 401 c.402C>T c.(400-402)ctC>ctT p.L134L UGT2A1_ENST00000514019.1_Silent_p.L335L|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron NM_001105677.2 NP_001099147.2 CACCATCACAGAGTTGTATGT 0.403000 36 50 0 0 0.003271 0 0 WBSCR17 64409 broad.mit.edu 37 7 70597851 70597851 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:70597851C>T ENST00000333538.5 + 1 697 c.63C>T c.(61-63)ttC>ttT p.F21F NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 21 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TAGCCGGCTTCGTGCTCTTCC 0.672000 9 22 0 0 0.004482 0 0 PABPC5 140886 broad.mit.edu 37 X 90691564 90691564 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:90691564C>T ENST00000312600.3 + 2 1202 c.988C>T c.(988-990)Cgg>Tgg p.R330W PABPC5_ENST00000373105.1_Missense_Mutation_p.R166W NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 330 RRM 4. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 GTCAATTAGTCGGGCCAAAGT 0.453000 31 10 0 0 0.002445 0 0 TTN 7273 broad.mit.edu 37 2 179616309 179616309 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179616309A>G ENST00000360870.5 - 46 11040 c.10818T>C c.(10816-10818)taT>taC p.Y3606Y TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3601 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) GAAATTCTAAATATTTCTCAT 0.388000 51 81 0 0 0.003610 0 0 PKLR 5313 broad.mit.edu 37 1 155264092 155264092 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:155264092G>A ENST00000392414.3 - 7 1070 c.957C>T c.(955-957)ttC>ttT p.F319F PKLR_ENST00000342741.4_Silent_p.F350F NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 350 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) TCTGAGCCAGGAAAACCTTCT 0.572000 9 47 0 0 0.004482 0 0 PHACTR1 221692 broad.mit.edu 37 6 13228132 13228132 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:13228132G>A ENST00000379350.1 + 8 1200 c.1071G>A c.(1069-1071)atG>atA p.M357I PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.M212I|PHACTR1_ENST00000332995.7_Missense_Mutation_p.M357I Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 357 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CAGGACCTATGGGCCTTCCAG 0.488000 252 466 0 0 0.003610 0 0 C12orf50 160419 broad.mit.edu 37 12 88390364 88390364 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:88390364C>T ENST00000298699.2 - 5 529 c.349G>A c.(349-351)Gag>Aag p.E117K C12orf50_ENST00000550553.1_Missense_Mutation_p.E117K NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 117 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TAACACATCTCCTTTATTGCT 0.284000 15 32 0 0 0.003163 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561251 145561251 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:145561251G>A ENST00000355594.4 + 10 1026 c.939G>A c.(937-939)gaG>gaA p.E313E NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 313 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCGGCTGGAGCAGGAGCTGG 0.557000 8 12 0 0 0.003080 0 0 FAM179A 165186 broad.mit.edu 37 2 29259493 29259493 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:29259493C>T ENST00000379558.4 + 18 2856 c.2505C>T c.(2503-2505)ccC>ccT p.P835P FAM179A_ENST00000403861.2_Silent_p.P780P|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 835 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 AGATGATCCCCCTCCTCAGAG 0.512000 21 25 0 0 0.001523 0 0 MMP24 10893 broad.mit.edu 37 20 33855020 33855020 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:33855020A>T ENST00000246186.6 + 6 1077 c.992A>T c.(991-993)gAg>gTg p.E331V MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 331 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCCCCAGCCGAGCCTCTGGAG 0.662000 6 8 0 0 0.001168 0 0 MC5R 4161 broad.mit.edu 37 18 13826435 13826435 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:13826435G>A ENST00000324750.3 + 1 893 c.671G>A c.(670-672)gGg>gAg p.G224E NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 224 ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GCTCTGCCCGGGGCCAGCTCT 0.617000 41 134 0 0 0.007835 0 0 USP33 23032 broad.mit.edu 37 1 78191401 78191401 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:78191401G>A ENST00000370793.1 - 12 1621 c.1275C>T c.(1273-1275)atC>atT p.I425I USP33_ENST00000357428.1_Silent_p.I425I|USP33_ENST00000370794.3_Silent_p.I394I|USP33_ENST00000370792.3_Silent_p.I425I NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 425 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TTGATGGAAGGATCTGTGGTG 0.368000 22 30 0 0 0.002299 0 0 KLF12 11278 broad.mit.edu 37 13 74420350 74420350 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:74420350G>A ENST00000377669.2 - 3 310 c.284C>T c.(283-285)gCc>gTc p.A95V KLF12_ENST00000377666.4_Missense_Mutation_p.A95V|KLF12_ENST00000472022.1_5'UTR NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 95 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) GGATGAAACGGCAGTAGGGGA 0.507000 37 61 0 0 0.006999 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21771647 21771647 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:21771647G>A ENST00000206660.6 + 5 745 c.745G>A c.(745-747)Gaa>Aaa p.E249K RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E249K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E222K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E222K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 249 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GCCTAAAGATGAAAATTTTGA 0.473000 10 68 0 0 0.008291 0 0 GRB7 2886 broad.mit.edu 37 17 37898921 37898921 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:37898921C>T ENST00000309156.4 + 3 515 c.258C>T c.(256-258)ggC>ggT p.G86G GRB7_ENST00000309185.3_Silent_p.G86G|GRB7_ENST00000394211.3_Silent_p.G86G|GRB7_ENST00000394204.1_Silent_p.G86G|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.G109G|GRB7_ENST00000394209.2_Silent_p.G86G NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 86 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTCTCGGGGGCCCCTCCAGTG 0.652000 46 68 0 0 0.003610 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128967 197128967 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:197128967G>A ENST00000367405.4 - 10 2320 c.2252C>T c.(2251-2253)tCt>tTt p.S751F ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 751 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 ATCATCAGGAGATTTTATTTC 0.378000 42 98 0 0 0.002522 0 0 ORC1 4998 broad.mit.edu 37 1 52861988 52861988 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:52861988C>T ENST00000371568.3 - 5 669 c.451G>A c.(451-453)Gag>Aag p.E151K ORC1_ENST00000371566.1_Missense_Mutation_p.E151K NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 151 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGTGTCTTCTCATTTTTCAGA 0.428000 40 81 0 0 0.002222 0 0 ZNF667 63934 broad.mit.edu 37 19 56953341 56953341 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56953341C>T ENST00000504904.3 - 7 1742 c.1023G>A c.(1021-1023)agG>agA p.R341R ZNF667_ENST00000292069.6_Silent_p.R341R|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.R469R Q5HYK9 ZN667_HUMAN zinc finger protein 667 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGGGTGAAATCCTATTAAATA 0.393000 40 54 0 0 0.007835 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136877 40136877 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:40136877C>T ENST00000278198.2 - 2 2929 c.966G>A c.(964-966)tcG>tcA p.S322S LRRC4C_ENST00000528697.1_Silent_p.S322S|LRRC4C_ENST00000530763.1_Silent_p.S322S|LRRC4C_ENST00000527150.1_Silent_p.S322S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 322 LRRCT. regulation of axonogenesis integral to membrane protein binding p.S322S(1) 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) AAGCTGTGTTCGAGGGGGCCA 0.493000 18 16 0 0 0.004990 0 0 LOC101928663 101928663 broad.mit.edu 37 6 25261489 25261489 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:25261489G>A ENST00000413898.2 - 0 150 AAGGCAAAAAGGAAAGGCACT 0.388000 6 5 0 0 0.001168 0 0 NXPE4 54827 broad.mit.edu 37 11 114442193 114442193 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:114442193G>A ENST00000375478.3 - 6 1282 c.1102C>T c.(1102-1104)Ctg>Ttg p.L368L NXPE4_ENST00000424261.2_Silent_p.L84L NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 ACTGACTTCAGTGCTGATAAC 0.353000 76 48 0 0 0.003610 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577958 101577958 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:101577958C>T ENST00000536262.2 - 8 1564 c.1006G>A c.(1006-1008)Gga>Aga p.G336R NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 336 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCAGGAAGTCCTGGATAATCT 0.353000 19 30 0 0 0.001882 0 0 ACTN1 87 broad.mit.edu 37 14 69369207 69369207 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:69369207G>A ENST00000193403.6 - 8 1132 c.749C>T c.(748-750)tCt>tTt p.S250F ACTN1_ENST00000538545.2_Missense_Mutation_p.S250F|ACTN1_ENST00000438964.2_Missense_Mutation_p.S250F|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.S250F|ACTN1_ENST00000376839.3_Missense_Mutation_p.S185F NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 250 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTGGGCTCCAGAGAAGGCGTG 0.577000 44 97 0 0 0.003610 0 0 SOGA1 140710 broad.mit.edu 37 20 35422872 35422872 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:35422872C>T ENST00000237536.4 - 14 3954 c.3613G>A c.(3613-3615)Ggg>Agg p.G1205R SOGA1_ENST00000279034.5_Missense_Mutation_p.G967R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G808R|SOGA1_ENST00000357779.3_Missense_Mutation_p.G967R NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 967 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TCTGGATCCCCTGGCTCGGAG 0.612000 30 55 0 0 0.007291 0 0 CDH9 1007 broad.mit.edu 37 5 26915930 26915930 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:26915930G>A ENST00000231021.4 - 3 503 c.331C>T c.(331-333)Cat>Tat p.H111Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 111 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 TTTGCAGCATGAATGTCTCCT 0.413000 62 98 0 0 0.003610 0 0 TNIK 23043 broad.mit.edu 37 3 170805181 170805181 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:170805181C>T ENST00000436636.2 - 24 3180 c.2836G>A c.(2836-2838)Gga>Aga p.G946R TNIK_ENST00000475336.1_Missense_Mutation_p.G854R|TNIK_ENST00000460047.1_Missense_Mutation_p.G883R|TNIK_ENST00000284483.8_Missense_Mutation_p.G938R|TNIK_ENST00000357327.5_Missense_Mutation_p.G917R|TNIK_ENST00000341852.6_Missense_Mutation_p.G862R|TNIK_ENST00000369326.5_Missense_Mutation_p.G924R|TNIK_ENST00000488470.1_Missense_Mutation_p.G891R|TNIK_ENST00000538048.1_Missense_Mutation_p.G898R|TNIK_ENST00000470834.1_Missense_Mutation_p.G909R NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 946 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CGCCCCAGTCCCTCAGTCGGG 0.592000 24 71 0 0 0.002299 0 0 CSTF1 1477 broad.mit.edu 37 20 54972518 54972518 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:54972518C>T ENST00000217109.4 + 3 777 c.425C>T c.(424-426)gCc>gTc p.A142V CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 142 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) AGGATGTTGGCCAAAAGTGCC 0.408000 28 46 0 0 0.002096 0 0 NXPE4 54827 broad.mit.edu 37 11 114453477 114453477 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:114453477C>T ENST00000375478.3 - 3 543 c.363G>A c.(361-363)ctG>ctA p.L121L NXPE4_ENST00000424261.2_5'UTR NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 CCCTCACCTCCAGCAGGATGT 0.597000 28 24 0 0 0.005443 0 0 SNAP91 9892 broad.mit.edu 37 6 84270612 84270612 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:84270612C>T ENST00000428679.2 - 27 3090 c.2497G>A c.(2497-2499)Gtt>Att p.V833I SNAP91_ENST00000521743.1_Missense_Mutation_p.V833I|SNAP91_ENST00000437520.1_Missense_Mutation_p.V526I|SNAP91_ENST00000521485.1_Missense_Mutation_p.V828I|SNAP91_ENST00000439399.2_Missense_Mutation_p.V833I|SNAP91_ENST00000369694.2_Missense_Mutation_p.V833I|SNAP91_ENST00000195649.6_Missense_Mutation_p.V828I|SNAP91_ENST00000520213.1_Missense_Mutation_p.V526I|SNAP91_ENST00000520302.1_Missense_Mutation_p.V803I O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 833 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GGTTGTCCAACCGATGGGGCC 0.418000 16 34 0 0 0.006122 0 0 USP39 10713 broad.mit.edu 37 2 85866462 85866462 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:85866462C>T ENST00000323701.6 + 9 1242 c.1232C>T c.(1231-1233)cCc>cTc p.P411L USP39_ENST00000409766.3_Missense_Mutation_p.P411L|USP39_ENST00000409470.1_Missense_Mutation_p.P411L|USP39_ENST00000409025.1_Missense_Mutation_p.P411L|USP39_ENST00000450066.2_Missense_Mutation_p.P308L|USP39_ENST00000459775.1_3'UTR NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 411 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CTCATCATTCCCCAAGTGCCA 0.522000 19 28 0 0 0.008871 0 0 OSBP 5007 broad.mit.edu 37 11 59345628 59345628 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:59345628G>A ENST00000263847.1 - 12 2533 c.2054C>T c.(2053-2055)cCt>cTt p.P685L NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 685 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TCACGGTAAAGGATTCCTTTT 0.478000 22 63 0 0 0.003330 0 0 SLC12A1 6557 broad.mit.edu 37 15 48513143 48513143 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:48513143G>A ENST00000396577.3 + 4 793 c.578G>A c.(577-579)gGa>gAa p.G193E SLC12A1_ENST00000380993.3_Missense_Mutation_p.G193E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G193E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G193E|SLC12A1_ENST00000561031.1_Missense_Mutation_p.G193E NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 193 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AACATCTGGGGAGTCATGCTC 0.433000 50 81 0 0 0.003610 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237582 30237582 + Silent SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:30237582A>T ENST00000378988.4 + 2 986 c.885A>T c.(883-885)gtA>gtT p.V295V NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 295 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TGGCCAAGGTAAATGGTACCA 0.527000 14 5 0 0 0.001855 0 0 MDN1 23195 broad.mit.edu 37 6 90433234 90433234 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:90433234G>A ENST00000369393.3 - 39 5890 c.5775C>T c.(5773-5775)aaC>aaT p.N1925N MDN1_ENST00000428876.1_Silent_p.N1925N Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1925 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TACTTACTTGGTTATTGAAAG 0.338000 5 32 0 0 0.000602 0 0 TRIM13 10206 broad.mit.edu 37 13 50586631 50586631 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:50586631T>A ENST00000378182.3 + 2 1293 c.555T>A c.(553-555)ttT>ttA p.F185L TRIM13_ENST00000298772.5_Missense_Mutation_p.F188L|TRIM13_ENST00000457662.2_Missense_Mutation_p.F185L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.F188L|TRIM13_ENST00000420995.2_Missense_Mutation_p.F185L NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 185 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TGAAGGAATTTTTTGAGAAGT 0.403000 8 21 0 0 0.004482 0 0 DPP10 57628 broad.mit.edu 37 2 116503668 116503668 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:116503668C>T ENST00000410059.1 + 10 1339 c.859C>T c.(859-861)Caa>Taa p.Q287* DPP10_ENST00000409163.1_Nonsense_Mutation_p.Q237*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.Q280*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.Q291* NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 287 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 AAAGGCAGGTCAAGTGAACCC 0.333000 4 17 0 0 0.000602 0 0 ATP13A4 84239 broad.mit.edu 37 3 193130141 193130141 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:193130141C>T ENST00000342695.4 - 27 3356 c.3034G>A c.(3034-3036)Gaa>Aaa p.E1012K ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.E993K|ATP13A4_ENST00000400270.2_Missense_Mutation_p.E28K NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1012 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GAGATGCTTTCATTTTGTACT 0.398000 48 151 0 0 0.003610 0 0 MDGA1 266727 broad.mit.edu 37 6 37615001 37615001 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:37615001C>T ENST00000434837.2 - 10 3172 c.1994G>A c.(1993-1995)aGg>aAg p.R665K MDGA1_ENST00000510077.1_5'UTR|MDGA1_ENST00000297153.7_Missense_Mutation_p.R668K|MDGA1_ENST00000505425.1_Missense_Mutation_p.R665K NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 665 Fibronectin type-III. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GTCGGGCTCCCTCTGAGTCCA 0.637000 3 4 0 0 0.000248 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769798 112769798 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:112769798C>T ENST00000390666.3 - 1 930 c.739G>A c.(739-741)Gac>Aac p.D247N CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 247 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TAGATGAGGTCCTTGCACTCG 0.602000 20 24 0 0 0.002299 0 0 DOK2 9046 broad.mit.edu 37 8 21766993 21766993 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:21766993G>A ENST00000276420.4 - 5 1326 c.1068C>T c.(1066-1068)ctC>ctT p.L356L DOK2_ENST00000544659.1_Silent_p.L202L NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 356 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGCTGTCATAGAGGGACAGGG 0.667000 16 34 0 0 0.003163 0 0 IL21R 50615 broad.mit.edu 37 16 27460366 27460366 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:27460366C>T ENST00000337929.3 + 9 1852 c.1379C>T c.(1378-1380)gCt>gTt p.A460V IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.A460V|IL21R_ENST00000564089.1_Missense_Mutation_p.A460V|IL21R_ENST00000395754.4_Missense_Mutation_p.A460V NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 460 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GAGGACTGGGCTGGGGGACTG 0.667000 T BCL6 NHL 5 40 0 0 0.001984 0 0 FGG 2266 broad.mit.edu 37 4 155530823 155530823 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:155530823C>T ENST00000404648.3 - 6 864 c.625G>A c.(625-627)Gaa>Aaa p.E209K FGG_ENST00000336098.3_Missense_Mutation_p.E209K|FGG_ENST00000407946.1_Missense_Mutation_p.E217K|FGG_ENST00000405164.1_Missense_Mutation_p.E217K NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 209 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 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCATCGATTTCACAGTAGACT 0.388000 9 64 0 0 0.006214 0 0 DPYSL5 56896 broad.mit.edu 37 2 27167592 27167592 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:27167592G>A ENST00000288699.6 + 12 1667 c.1509G>A c.(1507-1509)ggG>ggA p.G503G DPYSL5_ENST00000401478.1_Silent_p.G503G NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 503 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCACCCTGGGAAAAAAGAGA 0.572000 14 76 0 0 0.003163 0 0 NLRP14 338323 broad.mit.edu 37 11 7070991 7070991 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7070991G>A ENST00000299481.4 + 6 2559 c.2213G>A c.(2212-2214)gGg>gAg p.G738E NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 738 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GACCTAAAAGGGAGTGATATA 0.383000 48 106 0 0 0.003610 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67322075 67322075 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:67322075C>T ENST00000360461.5 + 19 5761 c.3226C>T c.(3226-3228)Cgc>Tgc p.R1076C PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R995C|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R1076C|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R1076C NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1076 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TGCAGAAGTTCGCTCTCGGGC 0.607000 33 52 0 0 0.001786 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515810 47515810 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:47515810G>A ENST00000371901.3 + 12 1744 c.1494G>A c.(1492-1494)ggG>ggA p.G498G CYP4X1_ENST00000538609.1_Silent_p.G497G NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 498 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CCAAGAATGGGATGTATTTGC 0.418000 28 65 0 0 0.006320 0 0 NT5C3A 51251 broad.mit.edu 37 7 33102236 33102236 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:33102236G>T ENST00000242210.7 - 1 173 c.97C>A c.(97-99)Cag>Aag p.Q33K NM_001002009.2|NM_001002010.2 NP_001002009.1|NP_001002010.1 5'-nucleotidase, cytosolic IIIA AATATGTACTGAGCCAGCACC 0.697000 7 9 8.12818e-05 8.97808e-05 0.001984 1 0 DNAH9 1770 broad.mit.edu 37 17 11593453 11593453 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:11593453G>A ENST00000262442.3 + 20 4382 c.4314G>A c.(4312-4314)aaG>aaA p.K1438K DNAH9_ENST00000454412.2_Silent_p.K1438K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1438 Stem (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) AAACCTTAAAGGAGCTGCAGA 0.552000 13 13 0 0 0.001855 0 0 PEG10 23089 broad.mit.edu 37 7 94293171 94293171 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:94293171G>A ENST00000482108.1 + 2 782 c.303G>A c.(301-303)caG>caA p.Q101Q PEG10_ENST00000488574.1_Silent_p.Q101Q NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 101 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CCCAGTGCCAGATCTTCATGG 0.572000 21 34 0 0 0.001882 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55290064 55290064 + Splice_Site SNP G G A rs113536578 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55290064G>A ENST00000336077.6 + 5 705 c.664_splice c.e5-1 p.G222_splice CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.G222_splice|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 222 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CATGTTCTAGGAAACCCTTCA 0.493000 46 31 0 0 0.003610 0 0 ZBTB2 57621 broad.mit.edu 37 6 151686700 151686700 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:151686700A>G ENST00000325144.4 - 3 1641 c.1501T>C c.(1501-1503)Tta>Cta p.L501L NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) ATGGAAGCTAACACTGGGTGG 0.448000 33 85 0 0 0.006230 0 0 PF4 5196 broad.mit.edu 37 4 74847220 74847220 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:74847220C>T ENST00000296029.3 - 2 302 c.132G>A c.(130-132)gtG>gtA p.V44V NM_002619.3 NP_002610.1 P02776 PLF4_HUMAN platelet factor 4 44 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding kidney(1)|lung(1) 2 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) AGGTGGTCTTCACACACAGGC 0.602000 10 19 0 0 0.001368 0 0 DOC2A 8448 broad.mit.edu 37 16 30020353 30020353 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:30020353C>T ENST00000350119.4 - 5 681 c.491G>A c.(490-492)gGg>gAg p.G164E DOC2A_ENST00000564979.1_Missense_Mutation_p.G164E|DOC2A_ENST00000564944.1_Missense_Mutation_p.G164E NM_003586.2 NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 164 C2 1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 ATCTGTGATCCCGCTGTAAGT 0.557000 15 51 0 0 0.006122 0 0 ZNF479 90827 broad.mit.edu 37 7 57200000 57200000 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:57200000C>T ENST00000331162.4 - 2 302 c.32G>A c.(31-33)cGa>cAa p.R11Q NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CACCATTTCTCGGCTTCCAGG 0.552000 18 42 0 0 0.001882 0 0 ADCY10 55811 broad.mit.edu 37 1 167815465 167815465 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:167815465G>A ENST00000367848.1 - 20 2695 c.2198C>T c.(2197-2199)tCc>tTc p.S733F ADCY10_ENST00000545172.1_Missense_Mutation_p.S672F|ADCY10_ENST00000367851.4_Missense_Mutation_p.S825F|ADCY10_ENST00000485964.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 825 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 CATTTGGTGGGAAAGTCTCAT 0.418000 59 93 0 0 0.003610 0 0 CASZ1 54897 broad.mit.edu 37 1 10708096 10708096 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:10708096G>A ENST00000377022.3 - 16 3576 c.3259C>T c.(3259-3261)Cct>Tct p.P1087S CASZ1_ENST00000344008.5_Missense_Mutation_p.P1087S|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1087 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGGACCGGAGGGGACGAGGGG 0.692000 6 10 0 0 0.001168 0 0 SIM1 6492 broad.mit.edu 37 6 100896525 100896525 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:100896525G>A ENST00000369208.3 - 7 1355 c.573C>T c.(571-573)atC>atT p.I191I SIM1_ENST00000262901.4_Silent_p.I191I P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 191 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGTACTGGCGGATCTTCAAGT 0.627000 14 23 0 0 0.004007 0 0 HIST1H4H 8365 broad.mit.edu 37 6 26285536 26285536 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:26285536C>T ENST00000289352.1 - 1 226 c.192G>A c.(190-192)gaG>gaA p.E64E HIST1H4H_ENST00000377727.1_Silent_p.E64E P62805 H4_HUMAN histone cluster 1, H4h 64 E -> Q (in a breast cancer sample; somatic mutation). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(2)|ovary(2)|upper_aerodigestive_tract(3) 7 GAATCACGTTCTCCAGGAACA 0.562000 HNSCC(76;0.23) 49 56 0 0 0.003610 0 0 SCAF8 22828 broad.mit.edu 37 6 155148326 155148326 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:155148326C>T ENST00000367178.3 + 18 2668 c.2092C>T c.(2092-2094)Ccc>Tcc p.P698S SCAF8_ENST00000417268.1_Missense_Mutation_p.P698S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P764S NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 698 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 GCCTCCAGTTCCCCCACCTGT 0.368000 57 101 0 0 0.003610 0 0 IL17RC 84818 broad.mit.edu 37 3 9962642 9962642 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:9962642C>T ENST00000295981.3 + 7 1042 c.824C>T c.(823-825)cCg>cTg p.P275L IL17RC_ENST00000403601.3_Missense_Mutation_p.P204L|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000413608.1_Missense_Mutation_p.P204L|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000383812.4_Intron NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 275 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AACAGCATCCCGAGCTGCTGG 0.607000 16 38 0 0 0.002299 0 0 BTAF1 9044 broad.mit.edu 37 10 93770907 93770907 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:93770907G>A ENST00000265990.6 + 29 4489 c.4181_splice c.e29+1 p.R1394_splice BTAF1_ENST00000544642.1_Splice_Site_p.R222_splice NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1394 Helicase ATP-binding. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GATTTCTTTAGGTAAGaatta 0.269000 9 37 0 0 0.004482 0 0 SLC26A2 1836 broad.mit.edu 37 5 149359901 149359901 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:149359901T>A ENST00000286298.4 + 3 1013 c.745T>A c.(745-747)Tca>Aca p.S249T NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 249 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGTCTACCTCTCAGATGCCTT 0.423000 27 124 0 0 0.002096 0 0 ALMS1 7840 broad.mit.edu 37 2 73761968 73761968 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:73761968C>T ENST00000264448.6 + 12 9907 c.9796C>T c.(9796-9798)Cca>Tca p.P3266S ALMS1_ENST00000409009.1_Missense_Mutation_p.P3224S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3266 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 TTTATTATTGCCATATAAGCC 0.348000 38 70 0 0 0.006999 0 0 PDPK1 5170 broad.mit.edu 37 16 2636802 2636802 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:2636802C>T ENST00000342085.4 + 11 1400 c.1251C>T c.(1249-1251)caC>caT p.H417H PDPK1_ENST00000441549.3_Silent_p.H417H|PDPK1_ENST00000389224.3_Silent_p.H390H|PDPK1_ENST00000354836.5_Silent_p.H393H|PDPK1_ENST00000268673.7_Silent_p.H290H NM_002613.4 NP_002604.1 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 417 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding p.H417H(1) central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) AGTACATTCACGATCTGGACT 0.542000 27 74 0 0 0.008361 0 0 CCDC11 220136 broad.mit.edu 37 18 47765069 47765069 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:47765069C>T ENST00000398545.4 - 7 1337 c.1220G>A c.(1219-1221)cGa>cAa p.R407Q NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 407 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TTTAGCTTCTCGTTGCACTAA 0.353000 16 20 0 0 0.004990 0 0 FAM63A 55793 broad.mit.edu 37 1 150975031 150975031 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:150975031G>A ENST00000361936.5 - 3 1017 c.63C>T c.(61-63)atC>atT p.I21I FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Silent_p.I69I|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 21 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGTTTTCAGGGATGACTGCTT 0.572000 47 118 0 0 0.003610 0 0 OTOA 146183 broad.mit.edu 37 16 21709162 21709162 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:21709162C>T ENST00000388958.3 + 9 807 c.806C>T c.(805-807)tCg>tTg p.S269L OTOA_ENST00000388956.4_Missense_Mutation_p.S190L|OTOA_ENST00000286149.4_Missense_Mutation_p.S269L NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 269 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GTTCACCTATCGTTTGAAGAA 0.348000 30 50 0 0 0.001786 0 0 ZNF737 100129842 broad.mit.edu 37 19 20736555 20736555 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:20736555C>T ENST00000427401.4 - 2 184 c.90G>A c.(88-90)agG>agA p.R30R ZNF737_ENST00000596797.1_Silent_p.R30R NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 30 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 ACATCACATTCCTATATAAAT 0.393000 24 50 0 0 0.003330 0 0 LST3 0 broad.mit.edu 37 12 21205097 21205097 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:21205097G>A ENST00000381541.3 + 10 1464 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E420K|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E467K|SLCO1B3_ENST00000553473.1_Intron CAATTGTGATGAAAGTCAATG 0.368000 29 66 0 0 0.002445 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750280 140750280 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140750280G>A ENST00000576222.1 + 1 450 c.319G>A c.(319-321)Gaa>Aaa p.E107K PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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) TCTGGAATTTGAAATGGTTGC 0.433000 47 168 0 0 0.003610 0 0 ME1 4199 broad.mit.edu 37 6 84117513 84117513 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:84117513G>A ENST00000369705.3 - 2 302 c.186C>T c.(184-186)ttC>ttT p.F62F ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 62 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCAGATGCTCGAAATTTTTTA 0.383000 44 67 0 0 0.003214 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531273 140531273 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140531273G>A ENST00000231136.1 + 1 1435 c.1435G>A c.(1435-1437)Ggc>Agc p.G479S PCDHB6_ENST00000543635.1_Missense_Mutation_p.G343S NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 479 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAGACTCAGGCATCAACGC 0.652000 71 74 0 0 0.003610 0 0 FBXO44 93611 broad.mit.edu 37 1 11715757 11715757 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:11715757G>A ENST00000376770.1 + 2 468 c.e2+1 FBXO44_ENST00000251547.5_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376760.1_Splice_Site|FBXO44_ENST00000376768.1_Intron NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) acccctggaggtaaggcatcc 0.512000 6 2 0 0 0.001168 0 0 HOXB1 3211 broad.mit.edu 37 17 46607762 46607762 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:46607762G>A ENST00000239174.6 - 1 597 c.505C>T c.(505-507)Cct>Tct p.P169S HOXB1_ENST00000577092.1_Missense_Mutation_p.P169S NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 169 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGTTCTGAAGGGCAGGGTGTT 0.587000 13 43 0 0 0.001855 0 0 C8B 732 broad.mit.edu 37 1 57415271 57415271 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:57415271C>T ENST00000543257.1 - 7 1231 c.665G>A c.(664-666)cGa>cAa p.R222Q C8B_ENST00000371237.4_Missense_Mutation_p.R274Q|C8B_ENST00000535057.1_Missense_Mutation_p.R212Q NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 274 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 GTGTTTGCCTCGATCACTTTG 0.368000 16 47 0 0 0.004990 0 0 COL6A3 1293 broad.mit.edu 37 2 238285955 238285955 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:238285955C>T ENST00000295550.4 - 7 2982 c.2530G>A c.(2530-2532)Ggc>Agc p.G844S COL6A3_ENST00000392004.3_Missense_Mutation_p.G638S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G638S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G638S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G437S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G643S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G644S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G237S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 844 Nonhelical region.|VWFA 5. 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) TTGGCTGAGCCGTCAAAGAGG 0.498000 9 56 0 0 0.006214 0 0 SLC12A5 57468 broad.mit.edu 37 20 44672310 44672310 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:44672310G>A ENST00000454036.1 + 10 1421 c.1345G>A c.(1345-1347)Gat>Aat p.D449N SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.D426N NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 449 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGACCTGAGGGATGCCCAGAA 0.597000 23 74 0 0 0.004656 0 0 RAB3IP 117177 broad.mit.edu 37 12 70194082 70194082 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:70194082G>A ENST00000550536.1 + 7 1487 c.1030G>A c.(1030-1032)Gat>Aat p.D344N RAB3IP_ENST00000553099.1_Missense_Mutation_p.D122N|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D122N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D35N|RAB3IP_ENST00000483530.2_Missense_Mutation_p.D328N|RAB3IP_ENST00000362025.5_Missense_Mutation_p.D344N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D122N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D328N NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 344 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) CTACCAGGAAGATATCTTTCC 0.333000 16 25 0 0 0.003163 0 0 FAM134A 79137 broad.mit.edu 37 2 220047130 220047130 + Missense_Mutation SNP C C T rs145044869 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:220047130C>T ENST00000430297.2 + 9 1547 c.1411C>T c.(1411-1413)Ccc>Tcc p.P471S NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 471 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCACCTGTTCCCCAGGACTC 0.617000 33 42 0 0 0.003755 0 0 MYOF 26509 broad.mit.edu 37 10 95076571 95076571 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:95076571C>T ENST00000371501.4 - 50 5721 c.e50-1 MYOF_ENST00000359263.4_Splice_Site|MYOF_ENST00000371502.4_Splice_Site|MYOF_ENST00000358334.5_Splice_Site Q9NZM1 MYOF_HUMAN myoferlin blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGAAATGCTCCTAAAACAAAA 0.448000 11 33 0 0 0.000978 0 0 ASPM 259266 broad.mit.edu 37 1 197072889 197072889 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:197072889A>T ENST00000367409.4 - 18 5748 c.5492T>A c.(5491-5493)aTt>aAt p.I1831N ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1831 IQ 9. 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 AGCAGACTGAATTTTAAGAGC 0.363000 33 77 0 0 0.003271 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105386875 105386875 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:105386875G>A ENST00000369774.4 - 9 965 c.689C>T c.(688-690)tCc>tTc p.S230F SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.S92F|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S97F|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S230F|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S65F Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 230 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GTTGATGTCGGAGTCATCCCG 0.607000 36 45 0 0 0.005524 0 0 HIP1 3092 broad.mit.edu 37 7 75203179 75203179 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:75203179G>A ENST00000336926.6 - 8 658 c.632C>T c.(631-633)tCt>tTt p.S211F HIP1_ENST00000434438.2_Missense_Mutation_p.S211F NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 211 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CACGGACACAGAGCGGGACAT 0.562000 T PDGFRB CMML 20 43 0 0 0.001523 0 0 PRKG1 5592 broad.mit.edu 37 10 54041916 54041916 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:54041916G>A ENST00000373980.4 + 14 1966 c.1549G>A c.(1549-1551)Gat>Aat p.D517N PRKG1_ENST00000401604.2_Missense_Mutation_p.D502N|PRKG1_ENST00000373985.1_Missense_Mutation_p.D490N|PRKG1_ENST00000373975.2_Missense_Mutation_p.D220N|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 502 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) TTGTAAGGTTGATTTTGGCTT 0.333000 22 21 0 0 0.001882 0 0 BRINP2 57795 broad.mit.edu 37 1 177249703 177249703 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:177249703C>T ENST00000361539.4 + 8 1703 c.1391C>T c.(1390-1392)cCc>cTc p.P464L FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 464 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 GGCGAAGGGCCCGCGTGTGCC 0.647000 12 20 0 0 0.001368 0 0 GLYCTK 132158 broad.mit.edu 37 3 52324538 52324538 + Silent SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:52324538C>A ENST00000354773.4 + 2 276 c.180C>A c.(178-180)tcC>tcA p.S60S GLYCTK_ENST00000461183.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Silent_p.S60S|GLYCTK_ENST00000473032.1_Silent_p.S60S|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000436784.2_Silent_p.S60S|GLYCTK_ENST00000305690.8_Silent_p.S60S NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 60 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) GGGCACTATCCTTGGACCCTG 0.622000 15 25 2.32078e-09 2.57873e-09 0.003163 1 0 NPAS2 4862 broad.mit.edu 37 2 101609814 101609814 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:101609814C>T ENST00000335681.5 + 20 2402 c.2117C>T c.(2116-2118)gCc>gTc p.A706V NPAS2_ENST00000542504.1_Missense_Mutation_p.A771V NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 706 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AACAGGTACGCCCAGAGCCAG 0.537000 13 29 0 0 0.002450 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473843 53473843 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:53473843C>T ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA AGGTTTGTTTCCAGCATGCCT 0.383000 42 66 0 0 0.003610 0 0 CD163L1 283316 broad.mit.edu 37 12 7586282 7586282 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:7586282C>T ENST00000313599.3 - 3 190 c.133G>A c.(133-135)Gat>Aat p.D45N CD163L1_ENST00000396630.1_Missense_Mutation_p.D45N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D45N Q9NR16 C163B_HUMAN CD163 molecule-like 1 45 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 AACTCCAAATCTGTTCCATCT 0.448000 37 51 0 0 0.004878 0 0 ACSM2B 348158 broad.mit.edu 37 16 20563565 20563565 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:20563565C>T ENST00000329697.6 - 6 963 c.795G>A c.(793-795)tgG>tgA p.W265* ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W186*|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W265*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W265* NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 265 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 TGTTCAGTATCCAACCTGTGT 0.433000 34 126 0 0 0.002836 0 0 SGIP1 84251 broad.mit.edu 37 1 67147764 67147764 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:67147764C>T ENST00000371037.4 + 15 1104 c.1027C>T c.(1027-1029)Cca>Tca p.P343S SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P347S|SGIP1_ENST00000371035.3_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 343 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ACCAGACAACCCAGCTGACTC 0.587000 57 138 0 0 0.003610 0 0 SLC9A2 6549 broad.mit.edu 37 2 103318941 103318941 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:103318941C>T ENST00000233969.2 + 9 1967 c.1825C>T c.(1825-1827)Ctc>Ttc p.L609F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 609 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 ATCAAGAAATCTCTATCAAAT 0.358000 27 46 0 0 0.007291 0 0 EPHB3 2049 broad.mit.edu 37 3 184298401 184298401 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:184298401C>T ENST00000330394.2 + 12 2836 c.2384C>T c.(2383-2385)tCc>tTc p.S795F EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 795 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TACACCAGTTCCCTGGTACAG 0.642000 28 23 0 0 0.001786 0 0 MAN2B2 23324 broad.mit.edu 37 4 6590783 6590783 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:6590783C>T ENST00000285599.3 + 5 612 c.576C>T c.(574-576)ttC>ttT p.F192F MAN2B2_ENST00000504248.1_Silent_p.F192F NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 192 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GGCTGCAGTTCGTGTGGCGAG 0.617000 13 35 0 0 0.002450 0 0 PCNX 22990 broad.mit.edu 37 14 71444814 71444814 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:71444814C>T ENST00000304743.2 + 6 2206 c.1760C>T c.(1759-1761)tCt>tTt p.S587F PCNX_ENST00000238570.5_Missense_Mutation_p.S587F|PCNX_ENST00000439984.3_Missense_Mutation_p.S587F NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 587 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CGAGGTGTTTCTGGTACCAAG 0.478000 37 75 0 0 0.005524 0 0 GPR6 2830 broad.mit.edu 37 6 110301318 110301318 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:110301318G>A ENST00000414000.2 + 3 1287 c.1048G>A c.(1048-1050)Gag>Aag p.E350K GPR6_ENST00000275169.3_Missense_Mutation_p.E335K P46095 GPR6_HUMAN G protein-coupled receptor 6 335 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) CCGCAACCAGGAGATCCAGCG 0.617000 44 92 0 0 0.003610 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291347 141291347 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:141291347C>T ENST00000247452.3 - 3 774 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 143 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GCCACCTTTTCATCTAGTGTA 0.502000 HNSCC(46;0.14) 40 68 0 0 0.007835 0 0 SYNPO 11346 broad.mit.edu 37 5 150027812 150027812 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:150027812C>T ENST00000394243.1 + 3 1081 c.707C>T c.(706-708)cCc>cTc p.P236L SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.P236L|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000307662.4_5'UTR NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 236 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) CCCCAGAGCCCCGACAGAGGG 0.672000 9 17 0 0 0.004482 0 0 FBXO10 26267 broad.mit.edu 37 9 37537249 37537249 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:37537249G>A ENST00000432825.2 - 3 1325 c.1277C>T c.(1276-1278)tCc>tTc p.S426F RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 426 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GCCCTGCACGGAGTTGGCCAG 0.602000 10 21 0 0 0.006214 0 0 ZDHHC18 84243 broad.mit.edu 37 1 27177626 27177626 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:27177626G>A ENST00000374142.3 + 6 935 c.840G>A c.(838-840)ctG>ctA p.L280L ZDHHC18_ENST00000478902.1_3'UTR NM_032283.2 NP_115659.1 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 280 integral to membrane zinc ion binding endometrium(1)|large_intestine(2) 3 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) TCACCGTGCTGGAGTTGGTGA 0.562000 36 59 0 0 0.004878 0 0 FAT2 2196 broad.mit.edu 37 5 150908800 150908800 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:150908800G>A ENST00000261800.5 - 14 9977 c.9965C>T c.(9964-9966)cCc>cTc p.P3322L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3322 Cadherin 30. 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) TGGATCTTGGGGGAATTGGGG 0.522000 41 49 0 0 0.002522 0 0 IGSF5 150084 broad.mit.edu 37 21 41151063 41151063 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:41151063G>A ENST00000380588.4 + 5 868 c.765G>A c.(763-765)ccG>ccA p.P255P IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 255 integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) CAAGTTTACCGAGTTTAGGTT 0.413000 34 18 0 0 0.004878 0 0 NPAP1 23742 broad.mit.edu 37 15 24921998 24921998 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:24921998G>A ENST00000329468.2 + 1 1458 c.984G>A c.(982-984)agG>agA p.R328R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGCAAAAGGAAAATGTCGA 0.587000 22 38 0 0 0.002780 0 0 SYNM 23336 broad.mit.edu 37 15 99670306 99670306 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:99670306C>T ENST00000336292.6 + 5 1858 c.1738C>T c.(1738-1740)Cta>Tta p.L580L SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Silent_p.L295L|SYNM_ENST00000328642.7_Silent_p.L580L|RP11-6O2.4_ENST00000566974.1_RNA NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 581 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GCCGATTAGTCTAGAAGTATC 0.552000 27 52 0 0 0.004656 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033208 52033208 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52033208G>A ENST00000346477.3 - 4 802 c.734C>T c.(733-735)tCc>tTc p.S245F SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S250F|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S261F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S272F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S261F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S209F NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 261 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) GACAGGGAGGGACGAGGTGTT 0.602000 65 66 0 0 0.003610 0 0 TC2N 123036 broad.mit.edu 37 14 92265359 92265359 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:92265359T>C ENST00000435962.2 - 6 934 c.611A>G c.(610-612)aAt>aGt p.N204S TC2N_ENST00000360594.5_Missense_Mutation_p.N204S|TC2N_ENST00000556018.1_Missense_Mutation_p.N204S|TC2N_ENST00000340892.5_Missense_Mutation_p.N204S NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 204 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCCCTGAGAATTTTTCCTTGA 0.318000 15 55 0 0 0.008871 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618194 156618194 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:156618194C>T ENST00000296518.7 + 3 384 c.175C>T c.(175-177)Ctt>Ttt p.L59F GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L59F|GUCY1A3_ENST00000515602.1_3'UTR Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 59 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 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) ACAAGAAAGTCTTCCTCAAAG 0.473000 38 51 0 0 0.004878 0 0 DPH7 92715 broad.mit.edu 37 9 140450068 140450068 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:140450068G>A ENST00000277540.2 - 9 1139 c.982C>T c.(982-984)Cac>Tac p.H328Y DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 GGCAATGTGTGAGATGTCAGG 0.602000 27 18 0 0 0.007291 0 0 MYH4 4622 broad.mit.edu 37 17 10356592 10356592 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10356592C>T ENST00000255381.2 - 24 3098 c.2988G>A c.(2986-2988)ctG>ctA p.L996L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 996 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 TCTCCTTGGTCAGCTTAGCAA 0.478000 74 61 0 0 0.003610 0 0 CUBN 8029 broad.mit.edu 37 10 16982177 16982177 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:16982177C>T ENST00000377833.4 - 37 5467 c.5402G>A c.(5401-5403)gGa>gAa p.G1801E NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1801 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CGTGGCATTTCCTTCACGGAT 0.433000 108 116 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179665398 179665398 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179665398G>A ENST00000589042.1 - 4 531 c.307C>T c.(307-309)Cca>Tca p.P103S TTN_ENST00000359218.5_Missense_Mutation_p.P103S|TTN_ENST00000342175.6_Missense_Mutation_p.P103S|TTN_ENST00000360870.5_Missense_Mutation_p.P103S|TTN_ENST00000591111.1_Missense_Mutation_p.P103S|TTN_ENST00000342992.6_Missense_Mutation_p.P103S|TTN_ENST00000460472.2_Missense_Mutation_p.P103S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 103 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) AAGTTGGGTGGTGCTGTCTCA 0.493000 14 83 0 0 0.002450 0 0 ATP9A 10079 broad.mit.edu 37 20 50230308 50230308 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:50230308A>G ENST00000338821.5 - 23 2743 c.2479T>C c.(2479-2481)Ttg>Ctg p.L827L ATP9A_ENST00000311637.5_Silent_p.L691L|ATP9A_ENST00000402822.1_Silent_p.L706L NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 827 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(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ACCATAAGCAACCGGCCAAGA 0.507000 62 137 0 0 0.003610 0 0 TBX5 6910 broad.mit.edu 37 12 114793500 114793500 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:114793500G>A ENST00000310346.4 - 9 2060 c.1394C>T c.(1393-1395)cCt>cTt p.P465L TBX5_ENST00000405440.2_Missense_Mutation_p.P465L|TBX5_ENST00000349716.5_Missense_Mutation_p.P415L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 465 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) CCTGACCACAGGCTGGTGGGC 0.657000 12 20 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179451330 179451330 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179451330T>A ENST00000589042.1 - 308 64522 c.64298A>T c.(64297-64299)gAa>gTa p.E21433V TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12493V|TTN_ENST00000342175.6_Missense_Mutation_p.E12560V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19792V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18865V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12368V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19792 Fibronectin type-III 55. 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) TTTCTTTCCTTCCTTTAGGCC 0.453000 42 52 0 0 0.002222 0 0 KCNE4 23704 broad.mit.edu 37 2 223918013 223918013 + Silent SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:223918013C>A ENST00000281830.3 + 2 949 c.618C>A c.(616-618)ctC>ctA p.L206L KCNE4_ENST00000604125.1_Silent_p.L155L|KCNE4_ENST00000488477.2_Intron Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 155 integral to membrane voltage-gated potassium channel activity large_intestine(2)|lung(5)|ovary(2)|skin(1) 10 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) AGACGCCCCTCAACGAGAGCA 0.637000 7 31 8.12818e-05 8.97808e-05 0.001984 1 0 CPE 1363 broad.mit.edu 37 4 166405696 166405696 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:166405696G>A ENST00000402744.4 + 5 1193 c.913G>A c.(913-915)Gat>Aat p.D305N NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 305 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAGAATGATGATGACAGCAG 0.517000 118 249 0 0 0.003610 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641726 106641726 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:106641726C>T ENST00000390605.2 - 0 246 CCACTCAAGCCCTTGTCCAGG 0.547000 68 121 0 0 0.003610 0 0 EZH2 2146 broad.mit.edu 37 7 148524337 148524337 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:148524337C>T ENST00000320356.2 - 7 768 c.647G>A c.(646-648)cGg>cAg p.R216Q EZH2_ENST00000536783.1_Missense_Mutation_p.R107Q|EZH2_ENST00000476773.1_Missense_Mutation_p.R207Q|EZH2_ENST00000541220.1_Missense_Mutation_p.R207Q|EZH2_ENST00000478654.1_Missense_Mutation_p.R207Q|EZH2_ENST00000483967.1_Missense_Mutation_p.R207Q|EZH2_ENST00000460911.1_Missense_Mutation_p.R216Q|EZH2_ENST00000350995.2_Missense_Mutation_p.R177Q NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 216 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) AGGAAATTTCCGAGGTGGGCG 0.343000 Mis DLBCL 52 100 0 0 0.003610 0 0 RNASEL 6041 broad.mit.edu 37 1 182550420 182550420 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:182550420G>A ENST00000367559.3 - 5 2098 c.1845C>T c.(1843-1845)ctC>ctT p.L615L RNASEL_ENST00000539397.1_Silent_p.L615L|RNASEL_ENST00000444138.1_Silent_p.L615L NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 615 KEN. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GCAGTAGTCTGAGGATCTCAC 0.423000 57 96 0 0 0.003610 0 0 OR6C65 403282 broad.mit.edu 37 12 55794506 55794506 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:55794506C>T ENST00000379665.2 + 1 293 c.194C>T c.(193-195)tCt>tTt p.S65F NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 AGGAATTTCTCTTTCTTAGAA 0.333000 19 29 0 0 0.006122 0 0 SH3RF2 153769 broad.mit.edu 37 5 145383698 145383698 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:145383698C>T ENST00000511217.1 + 3 778 c.726C>T c.(724-726)ttC>ttT p.F242F SH3RF2_ENST00000359120.4_Silent_p.F242F Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 242 SH3 2. 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) TAGGCATCTTCCCTATCTTGT 0.433000 34 67 0 0 0.003271 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350747 134350747 + Silent SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:134350747T>G ENST00000357304.4 + 15 3286 c.3231T>G c.(3229-3231)cgT>cgG p.R1077R PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1077 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TCACTTTTCGTGGTCGGCCTG 0.632000 12 6 0 0 0.000978 0 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:92251698G>A ENST00000435962.2 - 11 1493 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_ENST00000360594.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000340892.5_Silent_p.F390F NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 84 103 0 0 0.003610 0 0 CLSTN3 9746 broad.mit.edu 37 12 7303190 7303190 + Missense_Mutation SNP C C T rs141776530 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:7303190C>T ENST00000537408.1 + 14 2870 c.2332C>T c.(2332-2334)Cgg>Tgg p.R778W CLSTN3_ENST00000266546.6_Missense_Mutation_p.R766W Q9BQT9 CSTN3_HUMAN calsyntenin 3 766 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GGCTCGTTATCGGCTGCGACA 0.577000 24 55 0 0 0.002780 0 0 LRBA 987 broad.mit.edu 37 4 151356790 151356790 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:151356790G>A ENST00000535741.1 - 46 7465 c.6992C>T c.(6991-6993)tCa>tTa p.S2331L LRBA_ENST00000507224.1_Missense_Mutation_p.S2331L|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.S2331L|LRBA_ENST00000357115.3_Missense_Mutation_p.S2342L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2342 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) TCTGGAAATTGATGAAAAAGT 0.333000 34 70 0 0 0.002836 0 0 DNM3 26052 broad.mit.edu 37 1 172357743 172357743 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:172357743G>C ENST00000358155.4 + 20 2492 c.2316G>C c.(2314-2316)agG>agC p.R772S DNM3_ENST00000355305.5_Missense_Mutation_p.R778S|DNM3_ENST00000367731.1_Missense_Mutation_p.R768S NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 778 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 CAACCCAAAGGAGGCCAACAC 0.542000 6 19 0 0 0.001984 0 0 TTLL2 83887 broad.mit.edu 37 6 167754874 167754874 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:167754874G>A ENST00000239587.5 + 3 1574 c.1486G>A c.(1486-1488)Gat>Aat p.D496N NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 496 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) GAGTGGGCAGGATTTTCATCT 0.547000 37 42 0 0 0.003755 0 0 NFE2 4778 broad.mit.edu 37 12 54686323 54686323 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:54686323C>T ENST00000540264.2 - 2 1466 c.957G>A c.(955-957)ctG>ctA p.L319L RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.L319L|NFE2_ENST00000312156.4_Silent_p.L319L|NFE2_ENST00000435572.2_Silent_p.L319L Q16621 NFE2_HUMAN nuclear factor, erythroid 2 319 Leucine-zipper. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GCATGACCTCCAGGGTCCGGT 0.612000 22 37 0 0 0.002780 0 0 ZMAT1 84460 broad.mit.edu 37 X 101152859 101152859 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:101152859C>T ENST00000372782.3 - 5 534 c.487G>A c.(487-489)Gga>Aga p.G163R ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.G163R NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 0 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 GGTTGAAATCCTGATGGAGAT 0.413000 23 11 0 0 0.002780 0 0 SCN7A 6332 broad.mit.edu 37 2 167298103 167298103 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:167298103C>T ENST00000409855.1 - 14 2086 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 654 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACAAATTCTTCATAATTCTTA 0.443000 19 34 0 0 0.008871 0 0 CLVS1 157807 broad.mit.edu 37 8 62212398 62212398 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:62212398C>T ENST00000519846.1 + 3 484 c.12C>T c.(10-12)gtC>gtT p.V4V CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.V4V Q8IUQ0 CLVS1_HUMAN clavesin 1 4 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 TGGGACCAGTCTCTCTTCTTC 0.463000 13 28 0 0 0.001855 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762289 24762289 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:24762289C>T ENST00000376451.2 + 2 393 c.133C>T c.(133-135)Ccg>Tcg p.P45S KIAA1217_ENST00000396445.1_Missense_Mutation_p.P45S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P327S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P247S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P45S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P327S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P45S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P248S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P327S Q5T5P2 SKT_HUMAN KIAA1217 327 embryonic skeletal system development cytoplasm p.P327T(1) 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 GCCCCCCTCCCCGTCCAGAAT 0.622000 11 44 0 0 0.000978 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167623 140167623 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140167623G>A ENST00000504120.2 + 1 1748 c.1748G>A c.(1747-1749)cGa>cAa p.R583Q PCDHA1_ENST00000378133.3_Missense_Mutation_p.R583Q|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGCCGCGATTGGTGGGT 0.662000 31 41 0 0 0.001786 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560283 44560283 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:44560283C>T ENST00000332567.4 - 1 1705 c.1353G>A c.(1351-1353)ccG>ccA p.P451P KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 451 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 GCACCGTTTTCGGCCCGGCGG 0.602000 26 62 0 0 0.008361 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673986 20673986 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:20673986C>T ENST00000525748.1 + 15 2495 c.2222C>T c.(2221-2223)cCt>cTt p.P741L SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 741 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CATCTGGCCCCTGGAAGATTT 0.443000 39 69 0 0 0.002522 0 0 MC2R 4158 broad.mit.edu 37 18 13885395 13885395 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:13885395C>T ENST00000327606.3 - 2 303 c.123G>A c.(121-123)gaG>gaA p.E41E NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 41 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) CGATCAGATTCTCCAAAACTC 0.433000 12 24 0 0 0.001855 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61917794 61917794 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:61917794G>A ENST00000370275.4 + 13 1242 c.1150_splice c.e13+1 p.A384_splice ARFGAP1_ENST00000547204.1_Splice_Site_p.S238_splice|ARFGAP1_ENST00000519604.1_Splice_Site_p.S259_splice|ARFGAP1_ENST00000519273.2_Splice_Site_p.S191_splice|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000370283.4_Splice_Site_p.S304_splice|ARFGAP1_ENST00000353546.3_Splice_Site_p.S312_splice Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 0 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) CCCTTGGACAGGTATGCTGTG 0.622000 11 21 0 0 0.001368 0 0 DNAH7 56171 broad.mit.edu 37 2 196636518 196636518 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:196636518C>T ENST00000312428.6 - 61 11399 c.11299G>A c.(11299-11301)Gag>Aag p.E3767K DNAH7_ENST00000409063.1_Missense_Mutation_p.E250K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3767 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 ATGGCAGCCTCGATGTCGAAG 0.453000 37 122 0 0 0.004289 0 0 POM121L12 285877 broad.mit.edu 37 7 53103676 53103676 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:53103676G>A ENST00000408890.4 + 1 328 c.312G>A c.(310-312)ggG>ggA p.G104G NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 104 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCTTCCCGGGGAGACCGCTC 0.716000 12 18 0 0 0.004007 0 0 NECAP1 25977 broad.mit.edu 37 12 8245541 8245541 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:8245541C>T ENST00000339754.5 + 6 644 c.566C>T c.(565-567)cCc>cTc p.P189L NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 189 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TTACTCCCACCCCCGCCAGGA 0.512000 74 104 0 0 0.003610 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178548698 178548698 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:178548698G>A ENST00000251582.7 - 21 3243 c.3142C>T c.(3142-3144)Ccg>Tcg p.P1048S NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1048 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TCGGGGTCCGGGCGGGACAGC 0.622000 60 215 0 0 0.003610 0 0 COL13A1 1305 broad.mit.edu 37 10 71681679 71681679 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:71681679C>T ENST00000356340.3 + 20 1634 c.1098C>T c.(1096-1098)ctC>ctT p.L366L COL13A1_ENST00000517713.1_Silent_p.L344L|COL13A1_ENST00000520267.1_Silent_p.L309L|COL13A1_ENST00000520133.1_Silent_p.L315L|COL13A1_ENST00000354547.3_Silent_p.L344L|COL13A1_ENST00000398972.3_Silent_p.L366L|COL13A1_ENST00000522165.1_Silent_p.L347L|COL13A1_ENST00000398969.3_Silent_p.L309L|COL13A1_ENST00000398973.3_Silent_p.L366L|COL13A1_ENST00000398978.3_Silent_p.L366L|COL13A1_ENST00000398974.3_Silent_p.L354L|COL13A1_ENST00000398964.3_Silent_p.L337L|COL13A1_ENST00000398968.3_Silent_p.L347L|COL13A1_ENST00000398971.3_Silent_p.L366L|COL13A1_ENST00000357811.3_Silent_p.L344L|COL13A1_ENST00000398966.3_Silent_p.L344L Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 366 Triple-helical region 2 (COL2). 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) TTCCTGGCCTCCTGGGGCAGA 0.592000 3 5 0 0 0.000248 0 0 CRYL1 51084 broad.mit.edu 37 13 21006379 21006379 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:21006379G>A ENST00000382812.1 - 6 657 c.429C>T c.(427-429)gcC>gcT p.A143A CRYL1_ENST00000298248.7_Silent_p.A165A|CRYL1_ENST00000480748.1_5'UTR Q9Y2S2 CRYL1_HUMAN crystallin, lambda 1 165 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) CTGTCGTAGGGGCCGTCTCCG 0.597000 24 42 0 0 0.003954 0 0 ALPK2 115701 broad.mit.edu 37 18 56274597 56274597 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:56274597C>T ENST00000361673.3 - 3 397 c.184G>A c.(184-186)Gaa>Aaa p.E62K NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 62 Ig-like 1. 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 TCAAAGAATTCATAGTTGGAA 0.398000 39 42 0 0 0.005524 0 0 POLL 27343 broad.mit.edu 37 10 103339296 103339296 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:103339296C>T ENST00000370162.3 - 9 2136 c.1642G>A c.(1642-1644)Ggc>Agc p.G548S POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370172.1_Missense_Mutation_p.G460S|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.G548S|POLL_ENST00000339310.3_Missense_Mutation_p.G271S|POLL_ENST00000456836.2_Missense_Mutation_p.G285S|POLL_ENST00000370158.3_Missense_Mutation_p.G273S|POLL_ENST00000370168.3_Missense_Mutation_p.G221S|POLL_ENST00000370169.1_Missense_Mutation_p.G548S NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 548 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGCACTCGGCCAGGCCCCACC 0.627000 DNA polymerases (catalytic subunits) 16 42 0 0 0.003163 0 0 OR2T3 343173 broad.mit.edu 37 1 248637457 248637457 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248637457C>T ENST00000359594.2 + 1 831 c.806C>T c.(805-807)tCc>tTc p.S269F NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 269 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) CTCCCGAGTTCCTACCACACA 0.552000 76 285 0 0 0.003610 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40702812 40702812 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:40702812C>T ENST00000356699.5 + 4 498 c.469C>T c.(469-471)Cct>Tct p.P157S SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 p.P157T(2) TTCCCCGGATCCTCAAGCCAA 0.587000 89 207 0 0 0.003610 0 0 SULT1C3 442038 broad.mit.edu 37 2 108875273 108875273 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:108875273G>A ENST00000329106.2 + 5 610 c.610G>A c.(610-612)Gat>Aat p.D204N SULT1C3_ENST00000376700.1_Missense_Mutation_p.D204N NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 204 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CTTCTACGAGGATATTAAAAA 0.453000 11 48 0 0 0.008291 0 0 GCM2 9247 broad.mit.edu 37 6 10874607 10874607 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:10874607G>A ENST00000379491.4 - 5 1289 c.1142C>T c.(1141-1143)aCc>aTc p.T381I SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 381 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) GGTGATCACGGTTTGTAGGGC 0.562000 70 137 0 0 0.003610 0 0 ZNF556 80032 broad.mit.edu 37 19 2873574 2873574 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:2873574C>T ENST00000586426.1 + 2 171 c.84C>T c.(82-84)ctC>ctT p.L28L ZNF556_ENST00000307635.2_Silent_p.L28L Q9HAH1 ZN556_HUMAN zinc finger protein 556 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) AGAGAAAACTCTACAGAGATG 0.438000 39 53 0 0 0.006230 0 0 SFXN1 94081 broad.mit.edu 37 5 174936039 174936039 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:174936039G>A ENST00000321442.5 + 3 423 c.169G>A c.(169-171)Gga>Aga p.G57R SFXN1_ENST00000502393.1_Missense_Mutation_p.G57R NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 57 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTTAGGCAAGGAATTGTTCC 0.373000 40 45 0 0 0.006230 0 0 KANSL1 284058 broad.mit.edu 37 17 44109022 44109022 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:44109022G>A ENST00000262419.6 - 15 3608 c.3138C>T c.(3136-3138)ccC>ccT p.P1046P KANSL1_ENST00000574590.1_Silent_p.P1046P|KANSL1_ENST00000393476.3_Silent_p.P340P|KANSL1_ENST00000572904.1_Silent_p.P1046P|KANSL1_ENST00000432791.1_Silent_p.P1046P|KANSL1_ENST00000575318.1_Silent_p.P982P NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 1046 MLL1 complex protein binding ACTCCGCCTGGGGACTGTGCG 0.667000 17 33 0 0 0.007413 0 0 OSMR 9180 broad.mit.edu 37 5 38884197 38884197 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:38884197C>T ENST00000274276.3 + 5 1089 c.687C>T c.(685-687)atC>atT p.I229I OSMR_ENST00000502536.1_Silent_p.I229I NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 229 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) TGAAAGGCATCGTTCTTTTTG 0.373000 53 100 0 0 0.003610 0 0 BRDT 676 broad.mit.edu 37 1 92470105 92470105 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:92470105G>A ENST00000370389.2 + 17 3228 c.2304G>A c.(2302-2304)cgG>cgA p.R768R BRDT_ENST00000394530.3_Silent_p.R795R|BRDT_ENST00000362005.3_Silent_p.R841R|BRDT_ENST00000399546.2_Silent_p.R841R|BRDT_ENST00000402388.1_Silent_p.R841R NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 841 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.R841R(2) 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) TAAAAGCTCGGACACAGGAAC 0.388000 36 76 0 0 0.004878 0 0 CMYA5 202333 broad.mit.edu 37 5 79033728 79033728 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:79033728C>T ENST00000446378.2 + 2 9171 c.9140C>T c.(9139-9141)cCc>cTc p.P3047L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3047 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCCACAATTCCCAGTGAAGAG 0.328000 29 48 0 0 0.007291 0 0 NLRP8 126205 broad.mit.edu 37 19 56467267 56467267 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56467267G>A ENST00000291971.3 + 3 1914 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K NLRP8_ENST00000590542.1_Missense_Mutation_p.E615K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 615 cytoplasm ATP binding p.E615K(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGTCTGCATGAAATCCGGGA 0.443000 16 39 0 0 0.004990 0 0 C16orf62 57020 broad.mit.edu 37 16 19592973 19592973 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:19592973C>T ENST00000438132.3 + 7 952 c.904C>T c.(904-906)Cag>Tag p.Q302* C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q213*|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q302*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q213*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q91* NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 213 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 AATAGTCATCCAGGTTAGCTC 0.498000 22 44 0 0 0.001882 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943183 12943183 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:12943183G>A ENST00000235349.5 - 2 103 c.33C>T c.(31-33)ctC>ctT p.L11L NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 11 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) CAAGCTCCAGGAGTCTGGGTG 0.567000 37 261 0 0 0.008740 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092491 143092491 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:143092491G>A ENST00000367603.2 - 5 4127 c.3385C>T c.(3385-3387)Cct>Tct p.P1129S HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1129S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1129S NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGCTGAAGAGGAGGCAGCACA 0.657000 24 47 0 0 0.002299 0 0 ANO1 55107 broad.mit.edu 37 11 69972233 69972233 + Silent SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:69972233C>A ENST00000355303.5 + 10 1334 c.1029C>A c.(1027-1029)atC>atA p.I343I ANO1_ENST00000530676.1_Silent_p.I227I|ANO1_ENST00000398543.2_Silent_p.I227I|ANO1_ENST00000316296.5_Silent_p.I315I|ANO1_ENST00000531349.1_Silent_p.I78I|ANO1_ENST00000538023.1_Silent_p.I343I NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 343 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AGATGCTCATCCCTGCCTCCA 0.597000 48 34 2.52991e-16 2.82794e-16 0.003610 1 0 RNASEH1 246243 broad.mit.edu 37 2 3599846 3599846 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:3599846G>A ENST00000315212.3 - 3 652 c.297C>T c.(295-297)ctC>ctT p.L99L NM_002936.3 NP_002927.2 O60930 RNH1_HUMAN ribonuclease H1 99 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) GTGGCTCACGGAGTCGCTTGC 0.532000 28 26 0 0 0.002445 0 0 KAT7 11143 broad.mit.edu 37 17 47893179 47893179 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:47893179C>T ENST00000503935.2 + 8 1435 c.399C>T c.(397-399)acC>acT p.T133T KAT7_ENST00000259021.4_Silent_p.T289T|KAT7_ENST00000509773.1_Silent_p.T179T|KAT7_ENST00000510819.1_Silent_p.T120T|KAT7_ENST00000435742.2_Silent_p.T103T|KAT7_ENST00000424009.2_Silent_p.T259T|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000454930.2_Silent_p.T150T O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 289 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ACAGACAGACCTATGGGAACA 0.428000 36 72 0 0 0.003755 0 0 PIGG 54872 broad.mit.edu 37 4 520928 520928 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:520928C>T ENST00000453061.2 + 10 2276 c.2170C>T c.(2170-2172)Ctg>Ttg p.L724L PIGG_ENST00000310340.5_Silent_p.L716L|PIGG_ENST00000504346.1_Silent_p.L635L|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.L591L NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 724 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CAAGGCTGCCCTGGCGCTGGG 0.647000 16 28 0 0 0.006122 0 0 ICAM5 7087 broad.mit.edu 37 19 10405091 10405091 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:10405091G>A ENST00000221980.4 + 9 2068 c.2005G>A c.(2005-2007)Gat>Aat p.D669N NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 669 Ig-like C2-type 8. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) ACCGGAGATGGATGAATCTAC 0.692000 17 41 0 0 0.004990 0 0 ABCB5 340273 broad.mit.edu 37 7 20782640 20782640 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:20782640G>A ENST00000404938.2 + 25 3817 c.3165G>A c.(3163-3165)ggG>ggA p.G1055G ABCB5_ENST00000258738.6_Silent_p.G610G NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 610 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCGGCTGTGGGAAAAGCACTT 0.493000 12 26 0 0 0.001368 0 0 CCDC178 374864 broad.mit.edu 37 18 30847258 30847258 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:30847258C>T ENST00000383096.3 - 13 1362 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K CCDC178_ENST00000583930.1_Missense_Mutation_p.E394K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E394K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E394K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E394K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E394K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E394K coiled-coil domain containing 178 CTCAAATCTTCCAGCTAAGAA 0.303000 41 45 0 0 0.008740 0 0 PSD 5662 broad.mit.edu 37 10 104165244 104165244 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:104165244G>A ENST00000020673.5 - 12 2711 c.2185C>T c.(2185-2187)Ccc>Tcc p.P729S PSD_ENST00000406432.1_Missense_Mutation_p.P729S NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 729 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) ATGACCTTGGGGTTGGGGTCG 0.672000 13 51 0 0 0.001368 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753701 140753701 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140753701C>T ENST00000517434.1 + 1 51 c.51C>T c.(49-51)ctC>ctT p.L17L PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_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) TCCTGCTCCTCACGCTCCTGG 0.597000 9 10 0 0 0.004482 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537589 5537589 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5537589G>A ENST00000380184.1 - 1 346 c.83C>T c.(82-84)tCa>tTa p.S28L HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 28 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) AGTGGCACTTGAAGAGATATT 0.498000 35 65 0 0 0.008740 0 0 EBF2 64641 broad.mit.edu 37 8 25745471 25745471 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:25745471C>T ENST00000520164.1 - 9 1306 c.769G>A c.(769-771)Gcc>Acc p.A257T EBF2_ENST00000408929.3_Missense_Mutation_p.A109T NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 257 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GGGCTAATGGCTTTGATGCAG 0.493000 24 44 0 0 0.005443 0 0 BARHL1 56751 broad.mit.edu 37 9 135458257 135458257 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:135458257G>A ENST00000263610.2 + 1 686 c.73G>A c.(73-75)Ggg>Agg p.G25R BARHL1_ENST00000542090.1_Missense_Mutation_p.G25R NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 25 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CCTTCCCAAGGGGGACCCCTT 0.652000 28 28 0 0 0.007291 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2422192 2422192 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:2422192G>A ENST00000332578.3 + 13 2393 c.2393G>A c.(2392-2394)gGa>gAa p.G798E NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 798 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) ACTGCTAGGGGACAGACGCCA 0.662000 31 65 0 0 0.006230 0 0 THEMIS 387357 broad.mit.edu 37 6 128150819 128150819 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:128150819C>T ENST00000368250.1 - 4 772 c.274G>A c.(274-276)Gga>Aga p.G92R THEMIS_ENST00000543064.1_Missense_Mutation_p.G171R|THEMIS_ENST00000537166.1_Missense_Mutation_p.G136R|THEMIS_ENST00000368248.2_Missense_Mutation_p.G171R Q8N1K5 THMS1_HUMAN thymocyte selection associated 171 CABIT 1. 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 TAGAATTCTCCTTCTTGTGAC 0.378000 39 79 0 0 0.005524 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45501489 45501489 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:45501489G>A ENST00000359600.5 - 10 2367 c.2162C>T c.(2161-2163)cCt>cTt p.P721L NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 721 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) ACCGCTGAAAGGACCTCCTGG 0.498000 18 34 0 0 0.007413 0 0 ARMC4 55130 broad.mit.edu 37 10 28224174 28224174 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28224174C>T ENST00000305242.5 - 16 2352 c.2260G>A c.(2260-2262)Gaa>Aaa p.E754K ARMC4_ENST00000545014.1_Missense_Mutation_p.E279K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E446K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 754 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 GCTTTGTATTCCCGAAACCTA 0.398000 13 54 0 0 0.004007 0 0 UNC79 57578 broad.mit.edu 37 14 94053136 94053136 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:94053136C>T ENST00000553484.1 + 22 3068 c.2914C>T c.(2914-2916)Ctt>Ttt p.L972F UNC79_ENST00000256339.4_Missense_Mutation_p.L795F|UNC79_ENST00000555664.1_Missense_Mutation_p.L972F|UNC79_ENST00000393151.2_Missense_Mutation_p.L972F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 972 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCCAGACATTCTTTTTAATAT 0.363000 36 56 0 0 0.004878 0 0 DUS1L 64118 broad.mit.edu 37 17 80019527 80019527 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:80019527G>A ENST00000354321.7 - 6 1149 c.664C>T c.(664-666)Cgg>Tgg p.R222W DUS1L_ENST00000306796.5_Missense_Mutation_p.R222W Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 222 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CCCGTGTCCCGGAGGCAGCGC 0.652000 19 26 0 0 0.002299 0 0 CCDC94 55702 broad.mit.edu 37 19 4254406 4254406 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:4254406C>T ENST00000262962.7 + 4 393 c.325C>T c.(325-327)Cag>Tag p.Q109* NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 109 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) GCGGAATTTCCAGGCTGAGAA 0.577000 22 36 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 9061789 9061789 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9061789G>A ENST00000397910.4 - 3 25860 c.25657C>T c.(25657-25659)Ccc>Tcc p.P8553S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8555 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 TCCACAGAGGGAAGGCTCGGC 0.507000 7 33 0 0 0.001984 0 0 ADH1B 125 broad.mit.edu 37 4 100234992 100234992 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:100234992G>A ENST00000305046.8 - 6 881 c.814C>T c.(814-816)Cgg>Tgg p.R272W ADH1B_ENST00000394887.3_Missense_Mutation_p.R232W P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 272 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTGTCAAGCCGACCGATGACT 0.423000 106 154 0 0 0.003610 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755471 79755471 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:79755471C>T ENST00000305428.3 + 3 2436 c.2361C>T c.(2359-2361)ttC>ttT p.F787F NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 787 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 AAGATGGCTTCCTGGTGGAGC 0.602000 23 44 0 0 0.001882 0 0 EIF2B3 8891 broad.mit.edu 37 1 45363098 45363098 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:45363098G>A ENST00000360403.2 - 6 711 c.585C>T c.(583-585)ttC>ttT p.F195F EIF2B3_ENST00000372183.3_Silent_p.F195F NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 195 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) GACCCGTGTGGAAACGTATTC 0.383000 11 19 0 0 0.008291 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679957 75679957 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:75679957C>T ENST00000408868.1 + 0 44 NR_031714.1 CACTGGGAACCCCCTTCCCTC 0.527000 6 97 0 0 0.004482 0 0 MRPL2 51069 broad.mit.edu 37 6 43024063 43024063 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:43024063A>C ENST00000388752.3 - 3 810 c.386T>G c.(385-387)gTc>gGc p.V129G MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.V129G NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 129 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) ATCATAGCGGACTTGGATAAC 0.507000 29 65 0 0 0.008361 0 0 C9orf173 441476 broad.mit.edu 37 9 140146524 140146524 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:140146524C>T ENST00000388931.3 + 3 366 c.340C>T c.(340-342)Ccg>Tcg p.P114S C9orf173_ENST00000412566.1_Missense_Mutation_p.P114S NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1 NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1 Q8N7X2 CI173_HUMAN chromosome 9 open reading frame 173 114 kidney(1)|large_intestine(1)|lung(5)|pancreas(1) 8 GGTGCCGAGCCCGTCCGTACG 0.672000 6 7 0 0 0.001984 0 0 AVPR1B 553 broad.mit.edu 37 1 206224674 206224674 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:206224674G>A ENST00000367126.4 + 1 699 c.234G>A c.(232-234)ctG>ctA p.L78L NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 78 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) ACTTAGCCCTGACAGACCTGG 0.677000 10 42 0 0 0.006214 0 0 SMAD6 4091 broad.mit.edu 37 15 67004021 67004021 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:67004021C>T ENST00000288840.5 + 2 1864 c.833C>T c.(832-834)cCc>cTc p.P278L SMAD6_ENST00000457357.2_Missense_Mutation_p.P278L|SMAD6_ENST00000338426.4_Missense_Mutation_p.P17L NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 278 Poly-Pro. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CCGCCACCTCCCTACTCTCGG 0.557000 33 79 0 0 0.003755 0 0 CDS1 1040 broad.mit.edu 37 4 85562059 85562059 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:85562059C>T ENST00000295887.5 + 10 1371 c.948C>T c.(946-948)tcC>tcT p.S316S NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 316 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) ATGTAAACTCCTTCGTGACAG 0.403000 51 91 0 0 0.003610 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450329 110450329 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:110450329G>A ENST00000260283.4 - 16 3625 c.3341C>T c.(3340-3342)cCc>cTc p.P1114L ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P1091L|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P657L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P1078L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P1078L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P1088L|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P1088L NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1114 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GTCCTGGAAGGGAGAAGAACT 0.512000 47 28 0 0 0.003214 0 0 VCAM1 7412 broad.mit.edu 37 1 101200150 101200150 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:101200150C>T ENST00000294728.2 + 8 1986 c.1885C>T c.(1885-1887)Cca>Tca p.P629S VCAM1_ENST00000347652.2_Missense_Mutation_p.P537S|VCAM1_ENST00000370119.4_Missense_Mutation_p.P567S|VCAM1_ENST00000370115.1_Missense_Mutation_p.P430S NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 629 Ig-like C2-type 7. 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 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) TGGAAATGTTCCAGAAACATG 0.408000 12 22 0 0 0.002450 0 0 MYH2 4620 broad.mit.edu 37 17 10428661 10428661 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10428661C>T ENST00000245503.5 - 33 4926 c.4542G>A c.(4540-4542)gaG>gaA p.E1514E MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1514E|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1514 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 GGTCAGAAATCTCCTCTGTTG 0.383000 20 8 0 0 0.001882 0 0 HTN3 3347 broad.mit.edu 37 4 70897700 70897700 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70897700C>G ENST00000530128.1 + 3 131 c.56C>G c.(55-57)gCt>gGt p.A19G HTN3_ENST00000526767.1_Missense_Mutation_p.A19G|HTN3_ENST00000381057.3_Missense_Mutation_p.A19G P15516 HIS3_HUMAN histatin 3 19 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region metal ion binding|protein binding breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 8 TCCAAGGGAGCTGATTCACAT 0.234000 14 13 0 0 0.006122 0 0 SLC27A6 28965 broad.mit.edu 37 5 128320951 128320951 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:128320951G>A ENST00000262462.4 + 2 1617 c.607G>A c.(607-609)Gag>Aag p.E203K SLC27A6_ENST00000506176.1_Missense_Mutation_p.E203K|SLC27A6_ENST00000395266.1_Missense_Mutation_p.E203K Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 203 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CTCACCTGATGAGCCCGTGCC 0.438000 11 44 0 0 0.001855 0 0 SLC13A3 64849 broad.mit.edu 37 20 45216772 45216772 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:45216772G>A ENST00000279027.4 - 8 1065 c.1047C>T c.(1045-1047)ttC>ttT p.F349F SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000372121.1_Silent_p.F299F|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000495082.1_Silent_p.F302F|SLC13A3_ENST00000290317.5_Silent_p.F302F|SLC13A3_ENST00000413164.2_Silent_p.F299F NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 349 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.F349F(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CAAACATGCAGAAAAGGATGA 0.592000 11 60 0 0 0.001855 0 0 UBE4B 10277 broad.mit.edu 37 1 10161224 10161224 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:10161224C>T ENST00000377157.3 + 4 1119 c.58C>T c.(58-60)Cga>Tga p.R20* UBE4B_ENST00000253251.8_Nonsense_Mutation_p.R136*|UBE4B_ENST00000343090.6_Nonsense_Mutation_p.R136* NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 136 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TGAAAATGATCGAAGAGAAAA 0.383000 26 42 0 0 0.004656 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809378 18809378 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:18809378G>A ENST00000400664.1 + 1 1955 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 635 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCGTGCCAAGGAAATCTTCGT 0.711000 12 22 0 0 0.001368 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46012327 46012327 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:46012327C>T ENST00000400368.1 - 1 59 c.39G>A c.(37-39)ctG>ctA p.L13L TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 13 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 TGCCGTAGCTCAGGTCGCTGG 0.652000 18 14 0 0 0.002299 0 0 HECW1 23072 broad.mit.edu 37 7 43508616 43508616 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:43508616G>A ENST00000395891.1 + 16 3616 c.3011G>A c.(3010-3012)cGg>cAg p.R1004Q HECW1_ENST00000453890.1_Missense_Mutation_p.R970Q NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1004 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 CAGCACAACCGGGACTTGGTG 0.537000 42 54 0 0 0.002222 0 0 PMEL 6490 broad.mit.edu 37 12 56349272 56349272 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:56349272C>T ENST00000548747.1 - 9 2400 c.1738G>A c.(1738-1740)Gtc>Atc p.V580I PMEL_ENST00000550464.1_Missense_Mutation_p.V494I|PMEL_ENST00000550447.1_Missense_Mutation_p.V209I|PMEL_ENST00000539511.1_Missense_Mutation_p.V494I|PMEL_ENST00000360714.4_Missense_Mutation_p.V580I|PMEL_ENST00000536427.1_Missense_Mutation_p.V538I|PMEL_ENST00000552882.1_Missense_Mutation_p.V580I|PMEL_ENST00000449260.2_Missense_Mutation_p.V580I|PMEL_ENST00000548493.1_Missense_Mutation_p.V580I P40967 PMEL_HUMAN premelanosome protein 580 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGGGTGCTGACCACTGCCAGG 0.567000 19 46 0 0 0.001882 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149074 52149074 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52149074G>A ENST00000360844.6 - 3 702 c.661C>T c.(661-663)Cag>Tag p.Q221* SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 221 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GTGGTCACCTGAGCTCCTTGG 0.642000 19 44 0 0 0.003954 0 0 USP39 10713 broad.mit.edu 37 2 85866461 85866461 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:85866461C>T ENST00000323701.6 + 9 1241 c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S USP39_ENST00000409766.3_Missense_Mutation_p.P411S|USP39_ENST00000409470.1_Missense_Mutation_p.P411S|USP39_ENST00000409025.1_Missense_Mutation_p.P411S|USP39_ENST00000450066.2_Missense_Mutation_p.P308S|USP39_ENST00000459775.1_3'UTR NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 411 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 GCTCATCATTCCCCAAGTGCC 0.522000 20 28 0 0 0.001523 0 0 TMEM209 84928 broad.mit.edu 37 7 129815422 129815422 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:129815422G>A ENST00000397622.2 - 11 1396 c.1274C>T c.(1273-1275)tCa>tTa p.S425L TMEM209_ENST00000336804.8_Missense_Mutation_p.S382L|TMEM209_ENST00000473456.1_Missense_Mutation_p.S383L|TMEM209_ENST00000462753.1_Missense_Mutation_p.S424L|RP11-775D22.3_ENST00000483283.1_RNA NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 425 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) CCATCGAAATGAGCTCATACA 0.403000 9 15 0 0 0.001368 0 0 ZNF716 441234 broad.mit.edu 37 7 57522258 57522258 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:57522258G>A ENST00000420713.1 + 2 244 c.132G>A c.(130-132)gtG>gtA p.V44V NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 ATAGAGATGTGATGTTAGAGA 0.388000 18 47 0 0 0.001882 0 0 ZNF704 619279 broad.mit.edu 37 8 81605253 81605253 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:81605253G>A ENST00000327835.3 - 3 542 c.311C>T c.(310-312)cCc>cTc p.P104L ZNF704_ENST00000520336.1_5'UTR NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 104 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CGGCCGCACGGGAGGACTTCG 0.522000 21 50 0 0 0.002780 0 0 FAM134B 54463 broad.mit.edu 37 5 16474881 16474881 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:16474881C>T ENST00000306320.9 - 9 1549 c.1463G>A c.(1462-1464)gGt>gAt p.G488D FAM134B_ENST00000399793.2_Missense_Mutation_p.G347D NM_001034850.2 NP_001030022.1 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B 488 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 TGAAAGGAAACCTGAAGACTT 0.373000 12 83 0 0 0.001855 0 0 KCTD2 23510 broad.mit.edu 37 17 73059132 73059132 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:73059132C>T ENST00000322444.6 + 6 788 c.782C>T c.(781-783)tCg>tTg p.S261L KCTD2_ENST00000581589.1_Missense_Mutation_p.S62L NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 261 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) GAGAGAGGATCGCGGATGTAA 0.552000 8 28 0 0 0.003080 0 0 ZNF524 147807 broad.mit.edu 37 19 56113487 56113487 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56113487C>T ENST00000591046.1 + 1 243 c.9C>T c.(7-9)acC>acT p.T3T ZNF524_ENST00000301073.3_Silent_p.T3T Q96C55 ZN524_HUMAN zinc finger protein 524 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CAATGGACACCCCCAGCCCAG 0.652000 34 50 0 0 0.008740 0 0 DNAH7 56171 broad.mit.edu 37 2 196746621 196746621 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:196746621C>T ENST00000312428.6 - 36 5959 c.5859G>A c.(5857-5859)ctG>ctA p.L1953L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1953 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 GAATTGTGTCCAGAGTTGGCA 0.373000 43 49 0 0 0.008740 0 0 SULT1E1 6783 broad.mit.edu 37 4 70723286 70723286 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70723286T>A ENST00000226444.3 - 2 189 c.77A>T c.(76-78)tAt>tTt p.Y26F NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 26 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 ATTATCCCAATATTTGACAAA 0.353000 39 42 0 0 0.006230 0 0 CLEC4D 338339 broad.mit.edu 37 12 8671664 8671664 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:8671664C>T ENST00000299665.2 + 4 485 c.292C>T c.(292-294)Cct>Tct p.P98S NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 98 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) CTGCTATTTTCCTCTTACTGA 0.483000 19 34 0 0 0.007413 0 0 AP2S1 1175 broad.mit.edu 37 19 47342728 47342728 + Silent SNP G G A rs151335841 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:47342728G>A ENST00000263270.6 - 3 486 c.261C>T c.(259-261)ttC>ttT p.F87F AP2S1_ENST00000593442.1_Silent_p.F37F|AP2S1_ENST00000597020.1_Silent_p.F67F|AP2S1_ENST00000352203.4_Silent_p.F101F|AP2S1_ENST00000599990.1_Silent_p.F89F|AP2S1_ENST00000601649.1_Intron|AP2S1_ENST00000601498.1_Silent_p.F103F NM_004069.3 NP_004060.2 P53680 AP2S1_HUMAN adaptor-related protein complex 2, sigma 1 subunit 87 axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol protein transporter activity central_nervous_system(1)|lung(1)|urinary_tract(1) 3 all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128) OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336) GTACCTCCACGAAGTTGTGAA 0.592000 53 95 0 0 0.003610 0 0 LOC645166 645166 broad.mit.edu 37 1 148932910 148932910 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:148932910C>T ENST00000539543.1 + 0 166 NR_027355.1 GCCAAGACTCCGTCCTGCAAG 0.612000 7 112 0 0 0.003080 0 0 PCLO 27445 broad.mit.edu 37 7 82538248 82538248 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:82538248C>T ENST00000423517.2 - 8 13719 c.13382G>A c.(13381-13383)cGa>cAa p.R4461Q PCLO_ENST00000333891.8_Missense_Mutation_p.R4461Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4392 PDZ. 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 CGGCAGTTTTCGGTCCAGACC 0.418000 39 53 0 0 0.007835 0 0 TMEM115 11070 broad.mit.edu 37 3 50395886 50395886 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:50395886T>C ENST00000266025.3 - 1 1155 c.609A>G c.(607-609)gtA>gtG p.V203V XXcos-LUCA11.5_ENST00000606589.1_Intron NM_007024.4 NP_008955.1 Q12893 TM115_HUMAN transmembrane protein 115 203 negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus breast(2)|endometrium(1)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AGCGAAGATATACCCAACTGG 0.637000 10 29 0 0 0.000978 0 0 ANO2 57101 broad.mit.edu 37 12 5744347 5744347 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:5744347C>T ENST00000327087.8 - 17 1858 c.1787G>A c.(1786-1788)gGc>gAc p.G596D ANO2_ENST00000356134.5_Missense_Mutation_p.G597D|ANO2_ENST00000546188.1_Missense_Mutation_p.G597D Q9NQ90 ANO2_HUMAN anoctamin 2 601 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GGCCACAGCGCCGTAGATCTC 0.522000 11 20 0 0 0.000978 0 0 SLC6A19 340024 broad.mit.edu 37 5 1208876 1208876 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:1208876C>T ENST00000304460.10 + 2 274 c.218C>T c.(217-219)cCg>cTg p.P73L NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 73 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) TTCATGATCCCGTTCCTCATC 0.657000 37 102 0 0 0.002222 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583386 80583386 + Missense_Mutation SNP C C G rs143006037 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:80583386C>G ENST00000305904.6 + 3 205 c.85C>G c.(85-87)Ccc>Gcc p.P29A DYNLRB2_ENST00000562982.1_Missense_Mutation_p.P58A|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000570222.1_3'UTR NM_130897.1 NP_570967.1 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 29 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity large_intestine(1)|lung(4)|prostate(1) 6 AATAGGTATTCCCATCCGAAC 0.343000 8 9 0 0 0.006214 0 0 KRT24 192666 broad.mit.edu 37 17 38856635 38856635 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:38856635C>T ENST00000264651.2 - 4 912 c.855_splice c.e4-1 p.E286_splice NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 286 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) TTCTTCATTTCCTAGCATGAA 0.443000 90 181 0 0 0.003610 0 0 GGT5 2687 broad.mit.edu 37 22 24622222 24622222 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:24622222C>T ENST00000327365.4 - 8 1467 c.1051G>A c.(1051-1053)Gac>Aac p.D351N GGT5_ENST00000418439.2_Missense_Mutation_p.D274N|GGT5_ENST00000398292.3_Missense_Mutation_p.D351N|GGT5_ENST00000263112.7_Missense_Mutation_p.D319N NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 351 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 CCCAGCAGGTCCCGGGAGGCA 0.682000 15 26 0 0 0.007413 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001350 52001350 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52001350C>T ENST00000291707.3 - 5 1382 c.1327G>A c.(1327-1329)Gaa>Aaa p.E443K SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E325K NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 443 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGGTGAATTCCCCTTCATCC 0.612000 15 35 0 0 0.004007 0 0 XKR6 286046 broad.mit.edu 37 8 10755867 10755867 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:10755867G>A ENST00000416569.2 - 3 1547 c.1521C>T c.(1519-1521)atC>atT p.I507I XKR6_ENST00000304437.2_Silent_p.I228I NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 507 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) AGCTGGCAAGGATCTTAGCTC 0.582000 16 21 0 0 0.004007 0 0 CACNA1E 777 broad.mit.edu 37 1 181480569 181480569 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:181480569C>T ENST00000526775.1 + 3 600 c.435C>T c.(433-435)gcC>gcT p.A145A CACNA1E_ENST00000358338.5_Silent_p.A96A|CACNA1E_ENST00000367573.2_Silent_p.A145A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.A96A|CACNA1E_ENST00000367570.1_Silent_p.A145A|CACNA1E_ENST00000360108.3_Silent_p.A145A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 145 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 AAATTGTGGCCCTGGGGTTCA 0.488000 81 148 0 0 0.003610 0 0 NR1D1 9572 broad.mit.edu 37 17 38253337 38253337 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:38253337C>T ENST00000246672.3 - 2 981 c.351G>A c.(349-351)aaG>aaA p.K117K NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 117 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) TGCTGGTGCTCTTGCTGGGGG 0.572000 28 70 0 0 0.002096 0 0 GOLIM4 27333 broad.mit.edu 37 3 167747027 167747027 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:167747027G>A ENST00000470487.1 - 11 2186 c.1497C>T c.(1495-1497)atC>atT p.I499I GOLIM4_ENST00000309027.4_Silent_p.I471I NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 499 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCTCTCCTTGGATTCCCTGGT 0.383000 16 38 0 0 0.004007 0 0 PROX2 283571 broad.mit.edu 37 14 75330436 75330436 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:75330436C>T ENST00000556084.2 - 1 101 c.102G>A c.(100-102)ctG>ctA p.L34L PROX2_ENST00000445876.1_Silent_p.L34L|PROX2_ENST00000556489.2_Silent_p.L34L NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 34 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) AGTCTCTATCCAGCTCTGGAG 0.572000 17 44 0 0 0.006122 0 0 C8orf34 116328 broad.mit.edu 37 8 69552661 69552661 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:69552661G>T ENST00000337103.4 + 7 2415 c.823G>T c.(823-825)Ggg>Tgg p.G275W C8orf34_ENST00000325233.3_Missense_Mutation_p.G44W|C8orf34_ENST00000539993.1_Missense_Mutation_p.G300W|C8orf34_ENST00000518698.1_Missense_Mutation_p.G386W Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 300 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GGTACCTTCTGGGAGCAAATT 0.413000 13 66 4.7546e-09 5.27833e-09 0.004007 1 0 TRAK1 22906 broad.mit.edu 37 3 42251694 42251694 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:42251694C>T ENST00000341421.3 + 13 2199 c.2006C>T c.(2005-2007)cCa>cTa p.P669L TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron NM_001265608.1|NM_014965.4 NP_001252537.1|NP_055780.2 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 0 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 ACCTCTGTTCCAGGCACCATC 0.512000 136 227 0 0 0.003610 0 0 NT5C3A 51251 broad.mit.edu 37 7 33102262 33102262 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:33102262G>A ENST00000242210.7 - 1 147 c.71C>T c.(70-72)gCc>gTc p.A24V NM_001002009.2|NM_001002010.2 NP_001002009.1|NP_001002010.1 5'-nucleotidase, cytosolic IIIA CGCCACCAGGGCGCACACGCT 0.652000 5 5 0 0 0.000602 0 0 OR52B4 143496 broad.mit.edu 37 11 4389234 4389234 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:4389234G>A ENST00000408920.2 - 1 382 c.292C>T c.(292-294)Cgt>Tgt p.R98C NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGATGCAACGATCCAGGGAG 0.527000 11 48 0 0 0.001855 0 0 DIAPH1 1729 broad.mit.edu 37 5 140896445 140896445 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140896445G>A ENST00000253811.6 - 28 3935 c.3795C>T c.(3793-3795)gcC>gcT p.A1265A DIAPH1_ENST00000389054.3_Silent_p.A1261A|DIAPH1_ENST00000398566.3_Silent_p.A1256A|DIAPH1_ENST00000398562.2_Silent_p.A1240A|DIAPH1_ENST00000398557.4_Silent_p.A1264A|DIAPH1_ENST00000389057.5_Silent_p.A1255A|DIAPH1_ENST00000518047.1_Silent_p.A1252A|DIAPH1_ENST00000520569.1_Silent_p.A1207A O60610 DIAP1_HUMAN diaphanous-related formin 1 1264 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) CCAACTCCTTGGCTTCCTCAA 0.582000 20 27 0 0 0.002299 0 0 GSTT1 2952 broad.mit.edu 37 22 24376534 24376534 + Silent SNP C C T rs76323459 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:24376534C>T ENST00000248935.5 - 5 664 c.612G>A c.(610-612)gaG>gaA p.E204E GSTT1_ENST00000439996.2_Silent_p.E86E NM_000853.2 NP_000844.2 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 204 GST C-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) GGAAGAGGTCCTCCCCCACTG 0.632000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 23 49 0 0 0.003330 0 0 SLC26A8 116369 broad.mit.edu 37 6 35923261 35923261 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:35923261G>A ENST00000490799.1 - 17 2253 c.1900C>T c.(1900-1902)Ccc>Tcc p.P634S SLC26A8_ENST00000355574.2_Missense_Mutation_p.P634S|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P529S NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 634 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GATGCTTCGGGATCCAGTTTA 0.473000 32 46 0 0 0.002096 0 0 TLR5 7100 broad.mit.edu 37 1 223284687 223284687 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:223284687G>A ENST00000540964.1 - 4 2148 c.1687C>T c.(1687-1689)Cct>Tct p.P563S TLR5_ENST00000342210.6_Missense_Mutation_p.P563S O60602 TLR5_HUMAN toll-like receptor 5 563 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TCAGGATTAGGAGCTAGGAGC 0.388000 23 39 0 0 0.002780 0 0 GABBR1 2550 broad.mit.edu 37 6 29598337 29598337 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:29598337C>T ENST00000377034.4 - 4 708 c.373G>A c.(373-375)Gcc>Acc p.A125T GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000376977.3_Missense_Mutation_p.A125T NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 125 Sushi 2. 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) TCCACCCGGGCTCCGTCCAGA 0.597000 27 49 0 0 0.007291 0 0 OR51S1 119692 broad.mit.edu 37 11 4870198 4870198 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:4870198A>T ENST00000322101.2 - 1 316 c.241T>A c.(241-243)Ttg>Atg p.L81M MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 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) GCAGTGACCAATCCAATATCA 0.552000 41 66 0 0 0.006230 0 0 PRDM9 56979 broad.mit.edu 37 5 23526462 23526462 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:23526462G>A ENST00000296682.3 + 11 1447 c.1265G>A c.(1264-1266)aGa>aAa p.R422K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 422 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 CCATCTGCAAGAAAACTCCTC 0.483000 HNSCC(3;0.000094) 36 67 0 0 0.006230 0 0 SMOC2 64094 broad.mit.edu 37 6 169008841 169008841 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:169008841G>A ENST00000354536.5 + 9 1082 c.862G>A c.(862-864)Gag>Aag p.E288K SMOC2_ENST00000356284.2_Missense_Mutation_p.E277K NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 277 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CCATAGGTACGAGCAGCCGAA 0.612000 10 15 0 0 0.001368 0 0 ZBBX 79740 broad.mit.edu 37 3 167023697 167023697 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:167023697C>T ENST00000392766.2 - 17 1799 c.1459G>A c.(1459-1461)Gat>Aat p.D487N ZBBX_ENST00000455345.2_Missense_Mutation_p.D487N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D487N|ZBBX_ENST00000392764.1_Missense_Mutation_p.D458N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D487N NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 487 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 GAATACACATCAGGATCCACG 0.289000 7 13 0 0 0.003080 0 0 PKP4 8502 broad.mit.edu 37 2 159499059 159499059 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:159499059T>C ENST00000389757.3 + 11 1882 c.1757T>C c.(1756-1758)gTt>gCt p.V586A PKP4_ENST00000389759.3_Missense_Mutation_p.V586A NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 586 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 GTTTTGGAAGTTCAGAAGAAT 0.423000 HNSCC(62;0.18) 46 58 0 0 0.003610 0 0 MUC4 4585 broad.mit.edu 37 3 195487808 195487808 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:195487808C>T ENST00000463781.3 - 16 15254 c.14795G>A c.(14794-14796)gGa>gAa p.G4932E MUC4_ENST00000346145.4_Missense_Mutation_p.G696E|MUC4_ENST00000349607.4_Missense_Mutation_p.G645E|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1689 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CGTGTGAAGTCCGATGCTTGC 0.552000 12 64 0 0 0.001368 0 0 TIMM44 10469 broad.mit.edu 37 19 7998441 7998441 + Missense_Mutation SNP A A C rs41539862 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:7998441A>C ENST00000270538.3 - 7 966 c.698T>G c.(697-699)gTc>gGc p.V233G NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 233 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 GTGCAGCACGACCCCCAGGGC 0.652000 59 146 0 0 0.003610 0 0 ZNF91 7644 broad.mit.edu 37 19 23542635 23542635 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:23542635G>A ENST00000300619.7 - 4 3351 c.3146C>T c.(3145-3147)cCt>cTt p.P1049L ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P1017L NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1049 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ACACTTGTAAGGTTTCTCTCC 0.363000 12 38 0 0 0.001855 0 0 FGFBP1 9982 broad.mit.edu 37 4 15938050 15938050 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:15938050C>T ENST00000382333.1 - 3 500 c.206G>A c.(205-207)aGa>aAa p.R69K FGFBP1_ENST00000259988.2_Missense_Mutation_p.R69K NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 69 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 AGCAGCCCATCTGCAGTTGGC 0.502000 45 78 0 0 0.002852 0 0 PVRL1 5818 broad.mit.edu 37 11 119549141 119549141 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:119549141G>A ENST00000264025.3 - 2 944 c.414C>T c.(412-414)ctC>ctT p.L138L PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Silent_p.L138L|PVRL1_ENST00000340882.2_Silent_p.L138L NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 138 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCGTGAGATTGAGCTGGCTTT 0.612000 40 30 0 0 0.002222 0 0 AMPD1 270 broad.mit.edu 37 1 115218614 115218614 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:115218614G>A ENST00000369538.3 - 10 1533 c.1486C>T c.(1486-1488)Cgt>Tgt p.R496C AMPD1_ENST00000520113.2_Missense_Mutation_p.R500C|AMPD1_ENST00000353928.6_Missense_Mutation_p.R467C NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 467 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-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) Adenosine monophosphate(DB00131) TTCTTGGAACGGAACACATCA 0.428000 38 71 0 0 0.006230 0 0 FAM135A 57579 broad.mit.edu 37 6 71236209 71236209 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:71236209G>A ENST00000418814.2 + 15 4036 c.3422G>A c.(3421-3423)gGt>gAt p.G1141D FAM135A_ENST00000505769.1_Missense_Mutation_p.G721D|FAM135A_ENST00000361499.3_Missense_Mutation_p.G945D|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1141D|FAM135A_ENST00000457062.2_Missense_Mutation_p.G928D|FAM135A_ENST00000370479.3_Missense_Mutation_p.G928D NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 1141 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 CTGAGAGATGGTATAAACATG 0.358000 65 95 0 0 0.003610 0 0 HYDIN 54768 broad.mit.edu 37 16 70908741 70908741 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:70908741C>T ENST00000393567.2 - 63 10789 c.10639G>A c.(10639-10641)Gaa>Aaa p.E3547K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3547 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) GGTTTATTTTCCTCTGTGATG 0.522000 8 11 0 0 0.006214 0 0 CDK12 51755 broad.mit.edu 37 17 37681031 37681031 + Missense_Mutation SNP G G A rs143648695 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:37681031G>A ENST00000447079.4 + 12 3233 c.3200G>A c.(3199-3201)cGa>cAa p.R1067Q CDK12_ENST00000430627.2_Missense_Mutation_p.R1067Q NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1067 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 AAAACTTCTCGAAAAGAAACT 0.552000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 52 82 0 0 0.003610 0 0 CSMD1 64478 broad.mit.edu 37 8 3063131 3063131 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:3063131C>T ENST00000602557.1 - 32 5437 c.4882G>A c.(4882-4884)Ggc>Agc p.G1628S CSMD1_ENST00000602723.1_Missense_Mutation_p.G1628S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1627S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1628S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1627S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1627S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1628S|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1628 CUB 10. 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) GTGTACTGGCCTCCACAGGGA 0.453000 8 7 0 0 0.003080 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175770 140175770 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140175770G>A ENST00000526136.1 + 1 1221 c.1221G>A c.(1219-1221)ttG>ttA p.L407L PCDHA2_ENST00000378132.1_Silent_p.L407L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L407L NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTACTCGTTGGTGCTGGACA 0.622000 38 102 0 0 0.007835 0 0 OR5A1 219982 broad.mit.edu 37 11 59210722 59210722 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:59210722G>A ENST00000302030.2 + 1 106 c.81G>A c.(79-81)caG>caA p.Q27Q NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CAGAACTCCAGGCCCTCCTCT 0.537000 57 52 0 0 0.003610 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855733 228855733 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:228855733C>T ENST00000392056.3 - 11 4988 c.4942G>A c.(4942-4944)Gaa>Aaa p.E1648K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1619K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1648 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) ATTCTGTTTTCCTGAGATTTC 0.463000 14 17 0 0 0.004007 0 0 TBX4 9496 broad.mit.edu 37 17 59557286 59557286 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:59557286C>T ENST00000393853.4 + 7 910 c.747C>T c.(745-747)ttC>ttT p.F249F TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.F249F P57082 TBX4_HUMAN T-box 4 249 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCAAGGGATTCCGGGGCAGTG 0.582000 36 66 0 0 0.006999 0 0 CDH16 1014 broad.mit.edu 37 16 66945091 66945091 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:66945091C>T ENST00000299752.4 - 14 2111 c.1918G>A c.(1918-1920)Gat>Aat p.D640N CDH16_ENST00000565796.1_Missense_Mutation_p.D640N|CDH16_ENST00000568632.1_Missense_Mutation_p.D543N|CDH16_ENST00000570262.1_Missense_Mutation_p.D560N|CDH16_ENST00000394055.3_Missense_Mutation_p.D640N NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 640 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ATACCTGTATCCTGGGCCTCC 0.632000 11 17 0 0 0.001855 0 0 USP19 10869 broad.mit.edu 37 3 49149122 49149122 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:49149122G>A ENST00000453664.1 - 21 3310 c.2992C>T c.(2992-2994)Ccc>Tcc p.P998S USP19_ENST00000417901.1_Missense_Mutation_p.P1010S|USP19_ENST00000398898.2_Missense_Mutation_p.P947S|USP19_ENST00000398896.1_Missense_Mutation_p.P715S|USP19_ENST00000434032.2_Missense_Mutation_p.P1008S|USP19_ENST00000398892.3_Missense_Mutation_p.P947S|USP19_ENST00000398888.2_Missense_Mutation_p.P907S NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 907 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGCTGAATGGGGTCTCTCTCG 0.667000 22 30 0 0 0.001882 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548646 20548646 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:20548646C>T ENST00000329697.6 - 14 1836 c.1668G>A c.(1666-1668)ggG>ggA p.G556G ACSM2B_ENST00000565322.1_Silent_p.G477G|ACSM2B_ENST00000565232.1_Silent_p.G556G|ACSM2B_ENST00000567001.1_Silent_p.G556G NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 556 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 GTTGAATTTTCCCTGTGACAG 0.473000 42 133 0 0 0.006999 0 0 RPL10L 140801 broad.mit.edu 37 14 47120662 47120662 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:47120662G>A ENST00000298283.3 - 1 366 c.278C>T c.(277-279)cCc>cTc p.P93L NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 93 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 GACATGGAAGGGATGGAGCCG 0.537000 23 42 0 0 0.002299 0 0 FAM83F 113828 broad.mit.edu 37 22 40417328 40417328 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:40417328C>T ENST00000333407.5 + 4 908 c.814C>T c.(814-816)Ctc>Ttc p.L272F FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 272 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 GGACAGAAACCTCCTCCTGCT 0.602000 65 114 0 0 0.003610 0 0 OR7G2 390882 broad.mit.edu 37 19 9212964 9212964 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9212964C>T ENST00000305456.2 - 1 1018 c.1019G>A c.(1018-1020)gGa>gAa p.G340E NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 AAACCTGAATCCAAAGCAAAT 0.408000 20 39 0 0 0.002299 0 0 PLXDC2 84898 broad.mit.edu 37 10 20335861 20335861 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:20335861G>A ENST00000377252.3 + 3 1229 c.388G>A c.(388-390)Gat>Aat p.D130N PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 130 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 TGCCAGCCGGGATTTATGGGT 0.373000 29 97 0 0 0.006320 0 0 MUC16 94025 broad.mit.edu 37 19 9061493 9061493 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9061493C>T ENST00000397910.4 - 3 26156 c.25953G>A c.(25951-25953)ggG>ggA p.G8651G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8653 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 AAATCACAGTCCCTACATTGA 0.438000 26 49 0 0 0.004656 0 0 KIAA0930 23313 broad.mit.edu 37 22 45595851 45595851 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:45595851G>A ENST00000336156.4 - 8 983 c.918C>T c.(916-918)tcC>tcT p.S306S KIAA0930_ENST00000443310.3_Silent_p.S288S|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Silent_p.S272S|KIAA0930_ENST00000251993.7_Silent_p.S311S NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 306 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 TCCTCTTGAGGGATGGGGAGA 0.612000 17 40 0 0 0.004990 0 0 ZNF107 51427 broad.mit.edu 37 7 64168604 64168604 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:64168604G>A ENST00000395391.1 + 4 3297 c.1922G>A c.(1921-1923)tGt>tAt p.C641Y ZNF107_ENST00000423627.1_Missense_Mutation_p.C641Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.C641Y Q9UII5 ZN107_HUMAN zinc finger protein 107 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TGTGCAGAATGTGGCAAAGCC 0.363000 29 27 0 0 0.007291 0 0 TP63 8626 broad.mit.edu 37 3 189607196 189607196 + Silent SNP C C T rs147389337 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:189607196C>T ENST00000264731.3 + 12 1664 c.1575C>T c.(1573-1575)ctC>ctT p.L525L TP63_ENST00000449992.1_Silent_p.L346L|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Silent_p.L431L|TP63_ENST00000354600.5_Silent_p.L431L|TP63_ENST00000382063.4_Silent_p.L440L|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Silent_p.L525L|TP63_ENST00000440651.2_Silent_p.L521L|TP63_ENST00000456148.1_Silent_p.L427L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 525 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) CCCAGGCACTCCCTCCCCCAC 0.577000 HNSCC(45;0.13) 21 43 0 0 0.008871 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99123980 99123980 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:99123980C>T ENST00000394170.2 + 6 1568 c.1317C>T c.(1315-1317)ttC>ttT p.F439F ZKSCAN5_ENST00000326775.5_Silent_p.F439F|ZKSCAN5_ENST00000451158.1_Silent_p.F439F NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 439 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGAAGAACTTCGGTCGCCATT 0.537000 102 148 0 0 0.003610 0 0 NTN3 4917 broad.mit.edu 37 16 2522769 2522769 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:2522769C>T ENST00000293973.1 + 2 1199 c.996C>T c.(994-996)cgC>cgT p.R332R NM_006181.2 NP_006172.1 O00634 NET3_HUMAN netrin 3 332 Laminin EGF-like 2. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix p.R332R(1) breast(1)|central_nervous_system(2)|lung(3)|prostate(1) 7 TGTCCGGCCGCCGCAGCGGGG 0.687000 13 39 0 0 0.004990 0 0 TBC1D32 221322 broad.mit.edu 37 6 121481210 121481210 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:121481210G>A ENST00000275159.6 - 25 2841 c.2842C>T c.(2842-2844)Cca>Tca p.P948S TBC1D32_ENST00000398212.2_Missense_Mutation_p.P907S|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 TTTGGCAATGGATATGATGAA 0.299000 37 70 0 0 0.003610 0 0 FREM2 341640 broad.mit.edu 37 13 39452969 39452969 + Splice_Site SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:39452969A>C ENST00000280481.7 + 23 9077 c.8859_splice c.e23-1 p.D2954_splice NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2954 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGCTTAAAGGACAAAGCTCAG 0.423000 23 45 0 0 0.002780 0 0 ZNF831 128611 broad.mit.edu 37 20 57782063 57782063 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:57782063G>A ENST00000371030.2 + 3 3979 c.3979G>A c.(3979-3981)Gga>Aga p.G1327R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1327 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) CGCACTTGAGGGACTGAAGCC 0.572000 35 67 0 0 0.003755 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390341 208390341 + Silent SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:208390341G>C ENST00000367033.3 - 2 1684 c.927C>G c.(925-927)ctC>ctG p.L309L NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 309 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) CAGCCTGCAGGAGGCGGTATT 0.612000 17 38 0 0 0.007413 0 0 SEC24D 9871 broad.mit.edu 37 4 119659531 119659531 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:119659531A>G ENST00000379735.5 - 19 2655 c.2384T>C c.(2383-2385)tTt>tCt p.F795S SEC24D_ENST00000419654.2_Missense_Mutation_p.F350S|SEC24D_ENST00000280551.6_Missense_Mutation_p.F794S|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.F350S|SEC24D_ENST00000511481.1_Missense_Mutation_p.F425S NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 794 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 AACTGCTTTAAAAGCTACATC 0.383000 23 29 0 0 0.004656 0 0 BAGE2 85319 broad.mit.edu 37 21 11047514 11047514 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:11047514C>T ENST00000470054.1 - 0 740 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) GTACAGATTTCATAATTCGTT 0.348000 14 318 0 0 0.003163 0 0 TRPC3 7222 broad.mit.edu 37 4 122835986 122835986 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:122835986G>A ENST00000264811.5 - 3 1489 c.1071C>T c.(1069-1071)gcC>gcT p.A357A TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Silent_p.A430A NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 345 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GAAGGCCCAGGGCCACGACCA 0.537000 22 34 0 0 0.001882 0 0 IGHG3 3502 broad.mit.edu 37 14 106236650 106236650 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:106236650G>A ENST00000390551.2 - 0 414 TGGGCATGGGGGAGGTGTGTC 0.647000 35 266 0 0 0.005524 0 0 ZNF425 155054 broad.mit.edu 37 7 148801468 148801468 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:148801468G>A ENST00000378061.2 - 4 1627 c.1495C>T c.(1495-1497)Ccc>Tcc p.P499S NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 499 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) TCGCCGCAGGGAAACTCCTTC 0.632000 27 30 0 0 0.005443 0 0 LTK 4058 broad.mit.edu 37 15 41797411 41797411 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:41797411G>A ENST00000263800.6 - 15 2016 c.1920C>T c.(1918-1920)atC>atT p.I640I LTK_ENST00000355166.5_Silent_p.I579I|LTK_ENST00000453182.2_Silent_p.I510I|LTK_ENST00000561619.1_Silent_p.I338I NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 640 Protein kinase. apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CTAACCTGTGGATGAAGTGAT 0.577000 TSP Lung(18;0.14) 16 33 0 0 0.004990 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15326399 15326399 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:15326399C>T ENST00000344693.5 - 0 808 NR_027270.1 TCTCCTTTTCCATTGACTATT 0.448000 36 19 0 0 0.004878 0 0 TRPC7 57113 broad.mit.edu 37 5 135692364 135692364 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:135692364G>A ENST00000513104.1 - 2 994 c.712C>T c.(712-714)Cct>Tct p.P238S TRPC7_ENST00000426057.2_Missense_Mutation_p.P238S|TRPC7_ENST00000355180.3_Missense_Mutation_p.P238S NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 238 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGAGGACAGGGTCTTCGCTG 0.562000 5 23 0 0 0.001984 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545462 234545462 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:234545462G>A ENST00000344644.5 + 1 363 c.294G>A c.(292-294)tgG>tgA p.W98* UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Nonsense_Mutation_p.W98* 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) ATGCTCAATGGAAAGCACAGG 0.398000 20 83 0 0 0.007413 0 0 LYVE1 10894 broad.mit.edu 37 11 10585563 10585563 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:10585563C>T ENST00000256178.3 - 3 479 c.321G>A c.(319-321)ggG>ggA p.G107G MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Intron|LYVE1_ENST00000531706.1_5'UTR NM_006691.3 NP_006682.2 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 1 107 Link. anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) CCCCATTTTTCCCACACTTGG 0.463000 29 27 0 0 0.007291 0 0 OTOGL 283310 broad.mit.edu 37 12 80647276 80647276 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:80647276C>T ENST00000458043.2 + 13 1295 c.1289C>T c.(1288-1290)tCc>tTc p.S430F OTOGL_ENST00000547103.1_Missense_Mutation_p.S430F NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ACTTGCATCTCCTTGGAAAAT 0.343000 32 57 0 0 0.006999 0 0 FRG1B 284802 broad.mit.edu 37 20 29632694 29632694 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:29632694G>A ENST00000278882.3 + 8 889 c.509G>A c.(508-510)gGa>gAa p.G170E FRG1B_ENST00000358464.4_Missense_Mutation_p.G170E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAGAAAGATGGATTTTTGCAT 0.318000 16 706 0 0 0.007413 0 0 SARDH 1757 broad.mit.edu 37 9 136561368 136561368 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:136561368G>A ENST00000371872.4 - 14 2041 c.1784C>T c.(1783-1785)tCc>tTc p.S595F SARDH_ENST00000371868.1_Missense_Mutation_p.S23F|SARDH_ENST00000422262.2_Missense_Mutation_p.S427F|SARDH_ENST00000439388.1_Missense_Mutation_p.S595F NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 595 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) GACATCTGCGGAGAAGAGCCA 0.617000 16 18 0 0 0.004990 0 0 XIRP2 129446 broad.mit.edu 37 2 168100438 168100438 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:168100438G>A ENST00000409195.1 + 9 2625 c.2536G>A c.(2536-2538)Gaa>Aaa p.E846K XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E624K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E846K|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 671 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 TTGGATGTTTGAAACCCAGCC 0.373000 21 80 0 0 0.001882 0 0 GDF10 2662 broad.mit.edu 37 10 48429221 48429221 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:48429221G>A ENST00000224605.2 - 2 930 c.665C>T c.(664-666)tCc>tTc p.S222F NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 222 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CAGCTGGGCGGAGAGGAGCAG 0.706000 6 21 0 0 0.001984 0 0 MROH5 389690 broad.mit.edu 37 8 142444090 142444090 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:142444090G>A ENST00000430863.1 - 0 4005 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 ACCTTCTGGAGGAAGGAGAGC 0.627000 5 19 0 0 0.000602 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261747 39261747 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:39261747G>A ENST00000391415.1 + 1 164 c.107G>A c.(106-108)aGg>aAg p.R36K NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 36 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ACCTGCTGCAGGACCACCTGC 0.657000 22 26 0 0 0.001523 0 0 PALLD 23022 broad.mit.edu 37 4 169815749 169815749 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:169815749G>A ENST00000335742.7 + 13 3003 c.1646G>A c.(1645-1647)aGa>aAa p.R549K PALLD_ENST00000261509.6_Missense_Mutation_p.R707K|PALLD_ENST00000505667.1_Missense_Mutation_p.R707K|PALLD_ENST00000512127.1_Missense_Mutation_p.R325K|CBR4_ENST00000509108.1_5'UTR|PALLD_ENST00000507735.1_Missense_Mutation_p.R220K Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 931 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TACGAAGAAAGAATGGCTCGT 0.373000 Pancreatic Cancer, Familial Clustering of 8 13 0 0 0.001855 0 0 SETBP1 26040 broad.mit.edu 37 18 42281737 42281737 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:42281737C>T ENST00000282030.5 + 2 722 c.426C>T c.(424-426)tcC>tcT p.S142S SETBP1_ENST00000426838.4_Silent_p.S142S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 142 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) AGAAGGTGTCCCGTGCTGGAA 0.458000 Schinzel-Giedion syndrome 23 28 0 0 0.002299 0 0 C12orf50 160419 broad.mit.edu 37 12 88391963 88391963 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:88391963G>A ENST00000298699.2 - 4 318 c.138C>T c.(136-138)atC>atT p.I46I C12orf50_ENST00000550553.1_Silent_p.I46I NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 46 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TCTGTAGTGTGATATCTGCAG 0.373000 6 20 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82580135 82580135 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:82580135A>G ENST00000423517.2 - 6 10106 c.9769T>C c.(9769-9771)Ttg>Ctg p.L3257L PCLO_ENST00000333891.8_Silent_p.L3257L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3188 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 AGCTCCTCCAACTTTTTCTGA 0.463000 44 101 0 0 0.002852 0 0 STAT4 6775 broad.mit.edu 37 2 191897726 191897726 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:191897726C>T ENST00000392320.2 - 21 2316 c.2002G>A c.(2002-2004)Gac>Aac p.D668N STAT4_ENST00000358470.4_Missense_Mutation_p.D668N NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 668 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.D668H(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AAGGCTTTGTCTTTGGGAATG 0.398000 11 47 0 0 0.001855 0 0 HYDIN 54768 broad.mit.edu 37 16 71127753 71127753 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:71127753C>T ENST00000393567.2 - 11 1563 c.1413G>A c.(1411-1413)ggG>ggA p.G471G HYDIN_ENST00000538248.1_Silent_p.G498G|HYDIN_ENST00000448691.1_Silent_p.G471G|HYDIN_ENST00000448089.2_Silent_p.G471G|HYDIN_ENST00000393550.2_Silent_p.G471G|HYDIN_ENST00000321489.5_Silent_p.G471G|HYDIN_ENST00000288168.10_Silent_p.G488G|HYDIN_ENST00000541601.1_Silent_p.G488G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 471 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) TGAAAACTTTCCCAATATCCA 0.413000 20 26 0 0 0.002780 0 0 MOV10 4343 broad.mit.edu 37 1 113234343 113234343 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:113234343C>T ENST00000369644.1 + 7 1754 c.725C>T c.(724-726)cCc>cTc p.P242L MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.P298L|MOV10_ENST00000369645.1_Missense_Mutation_p.P298L|MOV10_ENST00000357443.2_Missense_Mutation_p.P298L Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 298 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TACCCACCTCCCCGCCTCAGG 0.547000 40 31 0 0 0.006999 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389963 150389963 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150389963G>A ENST00000223293.5 + 3 683 c.589G>A c.(589-591)Gaa>Aaa p.E197K NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 197 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) CCAAGTGAAGGAACTAATGGA 0.453000 29 59 0 0 0.002836 0 0 PIGQ 9091 broad.mit.edu 37 16 632295 632295 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:632295C>T ENST00000321878.5 + 10 1738 c.1579C>T c.(1579-1581)Cgc>Tgc p.R527C PIGQ_ENST00000409527.2_Missense_Mutation_p.R527C|PIGQ_ENST00000026218.5_Intron NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 0 Leu-rich. C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CAGGCCCCTCCGCCTCCTGAT 0.697000 6 9 0 0 0.001984 0 0 WDR6 11180 broad.mit.edu 37 3 49049302 49049302 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:49049302T>G ENST00000395474.3 + 2 705 c.425T>G c.(424-426)cTg>cGg p.L142R WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.L61R|WDR6_ENST00000489684.1_Intron NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 112 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CGCTCTGGCCTGTGGAACATG 0.547000 31 69 0 0 0.002445 0 0 KCNT1 57582 broad.mit.edu 37 9 138675892 138675892 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:138675892A>G ENST00000298480.5 + 25 2938 c.2864A>G c.(2863-2865)aAc>aGc p.N955S KCNT1_ENST00000491806.2_Missense_Mutation_p.N922S|KCNT1_ENST00000488444.2_Missense_Mutation_p.N936S|KCNT1_ENST00000490355.2_Missense_Mutation_p.N934S|KCNT1_ENST00000371757.2_Missense_Mutation_p.N955S|KCNT1_ENST00000263604.3_Missense_Mutation_p.N936S|KCNT1_ENST00000487664.1_Missense_Mutation_p.N910S|KCNT1_ENST00000486577.2_Missense_Mutation_p.N914S B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 955 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AATGGCTCCAACCTGGCCTTC 0.662000 13 11 0 0 0.003163 0 0 OR9G4 283189 broad.mit.edu 37 11 56510657 56510657 + Missense_Mutation SNP C C T rs147669235 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56510657C>T ENST00000302957.3 - 1 630 c.631G>A c.(631-633)Gaa>Aaa p.E211K NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E211K(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AGGACTTTTTCGTAGACCCTG 0.438000 12 36 0 0 0.001368 0 0 NOL4 8715 broad.mit.edu 37 18 31599502 31599502 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:31599502C>T ENST00000261592.5 - 6 1133 c.836G>A c.(835-837)gGg>gAg p.G279E NOL4_ENST00000269185.4_Missense_Mutation_p.G165E|NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.G279E|NOL4_ENST00000535475.1_Missense_Mutation_p.G124E|NOL4_ENST00000538587.1_Missense_Mutation_p.G205E NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 279 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 GTGTGTTCCCCCTGAAGCAAT 0.463000 21 28 0 0 0.002299 0 0 SAMD11 148398 broad.mit.edu 37 1 865649 865649 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:865649C>T ENST00000342066.3 + 3 270 c.187C>T c.(187-189)Ccc>Tcc p.P63S AL645608.1_ENST00000598827.1_Silent_p.G31G NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 63 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 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;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CGGGAGTGGCCCCACCTGTGG 0.637000 7 9 0 0 0.003080 0 0 OR4D2 124538 broad.mit.edu 37 17 56247058 56247058 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:56247058C>T ENST00000545221.1 + 1 42 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F14L(2) breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 ACTTTGTCTTCCTGGGGCTCT 0.458000 43 88 0 0 0.003610 0 0 CATSPERG 57828 broad.mit.edu 37 19 38852894 38852894 + Silent SNP G G A rs150226178 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38852894G>A ENST00000409235.3 + 18 2254 c.2139G>A c.(2137-2139)gcG>gcA p.A713A CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.A673A|AC005625.1_ENST00000590304.1_RNA NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 713 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 GCTGGTGGGCGAACAACAAAC 0.716000 11 7 0 0 0.000978 0 0 CSMD3 114788 broad.mit.edu 37 8 113347561 113347561 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:113347561G>A ENST00000297405.5 - 45 7406 c.7162C>T c.(7162-7164)Cac>Tac p.H2388Y CSMD3_ENST00000455883.2_Missense_Mutation_p.H2284Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2318Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2348Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2388 CUB 13. 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 TACCAACCGTGATAACTGAGC 0.338000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 27 0 0 0.001368 0 0 LRP1B 53353 broad.mit.edu 37 2 141079576 141079576 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:141079576C>T ENST00000389484.3 - 82 13567 c.12596G>A c.(12595-12597)gGa>gAa p.G4199E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4199 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) CAAATATTTTCCTTCTGGACA 0.358000 TSP Lung(27;0.18) 25 31 0 0 0.003954 0 0 ARNTL 406 broad.mit.edu 37 11 13407317 13407317 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:13407317T>C ENST00000401424.1 + 19 2096 c.1570T>C c.(1570-1572)Tct>Cct p.S524P ARNTL_ENST00000361003.4_Missense_Mutation_p.S449P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403290.1_Missense_Mutation_p.S567P|ARNTL_ENST00000389707.4_Missense_Mutation_p.S566P|ARNTL_ENST00000396441.3_Missense_Mutation_p.S566P|ARNTL_ENST00000403482.3_Missense_Mutation_p.S565P|ARNTL_ENST00000403510.3_Missense_Mutation_p.S523P NM_001030273.1 NP_001025444.1 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 567 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) TTATCCATATTCTGATAGTTC 0.398000 26 50 0 0 0.004656 0 0 MYO5C 55930 broad.mit.edu 37 15 52539675 52539675 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:52539675G>A ENST00000261839.7 - 15 2022 c.1861C>T c.(1861-1863)Cgg>Tgg p.R621W MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 621 Myosin head-like. 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) ACTGTGGTCCGGAAATGCTTG 0.498000 58 83 0 0 0.003610 0 0 ZNF202 7753 broad.mit.edu 37 11 123600426 123600426 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:123600426G>A ENST00000336139.4 - 4 872 c.510C>T c.(508-510)acC>acT p.T170T ZNF202_ENST00000529691.1_Silent_p.T170T|ZNF202_ENST00000530393.1_Silent_p.T170T O95125 ZN202_HUMAN zinc finger protein 202 170 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) ACTGCTCGGGGGTCGAGCTTT 0.597000 18 10 0 0 0.006122 0 0 DGKB 1607 broad.mit.edu 37 7 14613939 14613939 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:14613939G>A ENST00000403951.2 - 20 2090 c.1671C>T c.(1669-1671)atC>atT p.I557I DGKB_ENST00000406247.3_Silent_p.I557I|DGKB_ENST00000258767.5_Silent_p.I557I|DGKB_ENST00000402815.1_Silent_p.I556I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.I538I|DGKB_ENST00000407950.1_Silent_p.I549I|DGKB_ENST00000399322.3_Silent_p.I557I Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 557 DAGKc. 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) TGTCCAACATGATTTCTGTGC 0.368000 54 113 0 0 0.003610 0 0 RBM10 8241 broad.mit.edu 37 X 47034426 47034426 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:47034426C>T ENST00000377604.3 + 6 1253 c.511C>T c.(511-513)Cgg>Tgg p.R171W RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.R94W|RBM10_ENST00000329236.7_Missense_Mutation_p.R94W NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 171 RRM 1. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 AGGTCAGAGCCGGGGCTTCGC 0.592000 23 4 0 0 0.003330 0 0 TNKS 8658 broad.mit.edu 37 8 9563713 9563713 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:9563713C>T ENST00000310430.6 + 7 1245 c.1219C>T c.(1219-1221)Cat>Tat p.H407Y TNKS_ENST00000518281.1_Missense_Mutation_p.H170Y|TNKS_ENST00000520408.1_Missense_Mutation_p.H407Y|TNKS_ENST00000518027.1_3'UTR NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 407 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) TGTGCCTCTTCATAATGCATG 0.279000 41 69 0 0 0.003610 0 0 NUMBL 9253 broad.mit.edu 37 19 41188839 41188839 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:41188839C>T ENST00000252891.4 - 4 451 c.284G>A c.(283-285)gGa>gAa p.G95E NUMBL_ENST00000598779.1_Missense_Mutation_p.G54E|NUMBL_ENST00000540131.1_Missense_Mutation_p.G54E NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 95 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CACGTGCATTCCCCGGGACTC 0.592000 30 44 0 0 0.002836 0 0 MYOCD 93649 broad.mit.edu 37 17 12666536 12666536 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:12666536C>T ENST00000425538.1 + 14 2736 c.2536C>T c.(2536-2538)Ccc>Tcc p.P846S MYOCD_ENST00000343344.4_Missense_Mutation_p.P798S|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 798 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) CCCCTTTGATCCCTATGCCAC 0.502000 36 38 0 0 0.004878 0 0 TLL2 7093 broad.mit.edu 37 10 98146728 98146728 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:98146728C>T ENST00000357947.3 - 14 2059 c.1834G>A c.(1834-1836)Gat>Aat p.D612N NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 612 EGF-like 1; calcium-binding (Potential). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) ATCTTCTTATCGGCGGCCAGC 0.577000 46 57 0 0 0.003610 0 0 ABCC4 10257 broad.mit.edu 37 13 95813565 95813565 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:95813565A>G ENST00000376887.4 - 19 2447 c.2333T>C c.(2332-2334)tTt>tCt p.F778S ABCC4_ENST00000412704.1_Missense_Mutation_p.F731S|ABCC4_ENST00000536256.1_Missense_Mutation_p.F703S|ABCC4_ENST00000431522.1_Missense_Mutation_p.F778S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 778 ABC transmembrane type-1 2. 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) TGCTATGCCAAAAAGAACGGT 0.363000 15 38 0 0 0.007413 0 0 DSG3 1830 broad.mit.edu 37 18 29049078 29049078 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29049078G>A ENST00000257189.4 + 12 1746 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 555 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) CAGAGCCCAGGAACAGATACC 0.473000 34 98 0 0 0.003755 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598213 81598213 + Silent SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:81598213A>C ENST00000356860.3 - 29 2723 c.2385T>G c.(2383-2385)ctT>ctG p.L795L CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Silent_p.L807L NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 807 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTGCAGGTTTAAGAAGTTTCC 0.284000 26 75 0 0 0.002445 0 0 PCED1B 91523 broad.mit.edu 37 12 47629003 47629003 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:47629003G>A ENST00000546455.1 + 4 888 c.157G>A c.(157-159)Gag>Aag p.E53K PCED1B_ENST00000432328.1_Missense_Mutation_p.E53K PC-esterase domain containing 1B AGCAAGGGGGGAGCTGAACTT 0.612000 15 35 0 0 0.003163 0 0 SACS 26278 broad.mit.edu 37 13 23911201 23911201 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:23911201C>T ENST00000382298.3 - 10 7402 c.6814G>A c.(6814-6816)Ggt>Agt p.G2272S SACS_ENST00000402364.1_Missense_Mutation_p.G1522S|SACS_ENST00000382292.3_Missense_Mutation_p.G2272S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2272 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GACACTGAACCACAACCTCTA 0.353000 18 37 0 0 0.007413 0 0 CDKL3 51265 broad.mit.edu 37 5 133644076 133644076 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:133644076G>A ENST00000521118.1 - 9 1231 c.1117C>T c.(1117-1119)Cca>Tca p.P373S CDKL3_ENST00000523832.1_Missense_Mutation_p.P373S|CDKL3_ENST00000435240.2_Missense_Mutation_p.P78S|CDKL3_ENST00000521755.1_3'UTR|CDKL3_ENST00000536186.1_Missense_Mutation_p.P78S|CDKL3_ENST00000523054.1_Missense_Mutation_p.P184S|CDKL3_ENST00000435211.1_Missense_Mutation_p.P373S|CDKL3_ENST00000265334.4_Missense_Mutation_p.P373S|CDKL3_ENST00000518409.1_5'UTR Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 373 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCTTTTTTGGTTCTGAGATA 0.373000 26 29 0 0 0.003954 0 0 POTEH 23784 broad.mit.edu 37 22 16287790 16287790 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:16287790G>A ENST00000343518.6 - 1 147 c.96C>T c.(94-96)ttC>ttT p.F32F NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 32 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TGCACCAGGCGAAGCAGTGGC 0.582000 86 560 0 0 0.003610 0 0 TANGO6 79613 broad.mit.edu 37 16 68894226 68894226 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:68894226C>T ENST00000261778.1 + 2 546 c.534C>T c.(532-534)gtC>gtT p.V178V NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) TTGGTGCCGTCGTTCAAGACG 0.498000 47 133 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179606574 179606574 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179606574C>T ENST00000589042.1 - 48 11610 c.11386G>A c.(11386-11388)Gaa>Aaa p.E3796K TTN_ENST00000359218.5_Missense_Mutation_p.E3558K|TTN_ENST00000342175.6_Missense_Mutation_p.E3625K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E3479K|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.E3433K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3479 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) TCAAGTGTTTCATTTATTTTA 0.363000 9 8 0 0 0.004482 0 0 CAT 847 broad.mit.edu 37 11 34470872 34470872 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:34470872A>T ENST00000241052.4 + 2 289 c.200A>T c.(199-201)gAg>gTg p.E67V NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 67 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TTTGACCGAGAGAGAATTCCT 0.438000 29 64 0 0 0.002096 0 0 CAPN10 11132 broad.mit.edu 37 2 241534054 241534054 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:241534054C>T ENST00000391984.2 + 6 1121 c.925C>T c.(925-927)Ctc>Ttc p.L309F CAPN10_ENST00000354082.4_Missense_Mutation_p.L309F|CAPN10_ENST00000404753.3_Missense_Mutation_p.L309F|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.L309F NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 309 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) GGAGGAGTTCCTCAGGGAGTT 0.637000 63 46 0 0 0.003610 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142119855 142119855 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:142119855C>T ENST00000390377.1 - 0 311 TGGCTGAGTCCCGCTGCTCTG 0.562000 24 54 0 0 0.005443 0 0 ACVRL1 94 broad.mit.edu 37 12 52312866 52312866 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:52312866C>T ENST00000550683.1 + 8 1487 c.1386C>T c.(1384-1386)acC>acT p.T462T ACVRL1_ENST00000419526.2_Silent_p.T274T|ACVRL1_ENST00000388922.4_Silent_p.T448T NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 448 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) ATCAGCAGACCCCCACCATCC 0.602000 18 36 0 0 0.008871 0 0 CDO1 1036 broad.mit.edu 37 5 115142174 115142174 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:115142174C>T ENST00000250535.4 - 4 1001 c.445G>A c.(445-447)Gaa>Aaa p.E149K CDO1_ENST00000502631.1_5'UTR NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 149 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) ACAGCAGGTTCCGTATGGCTG 0.408000 14 28 0 0 0.003163 0 0 GRIN2A 2903 broad.mit.edu 37 16 9892299 9892299 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:9892299C>T ENST00000396573.2 - 12 2500 c.2191G>A c.(2191-2193)Gat>Aat p.D731N GRIN2A_ENST00000330684.3_Missense_Mutation_p.D731N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D731N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D731N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D574N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D731N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 731 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) ACTGCGGCATCGTAGATGAAA 0.562000 10 37 0 0 0.001368 0 0 KRT35 3886 broad.mit.edu 37 17 39633394 39633394 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:39633394G>A ENST00000246639.2 - 7 1324 c.1192C>T c.(1192-1194)Cct>Tct p.P398S KRT35_ENST00000393989.1_Missense_Mutation_p.P428S Q92764 KRT35_HUMAN keratin 35 428 Coil 2.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GAGGCCGCAGGAAGACAGGGA 0.572000 26 67 0 0 0.003954 0 0 GPR116 221395 broad.mit.edu 37 6 46849835 46849835 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:46849835C>T ENST00000283296.7 - 7 910 c.622G>A c.(622-624)Ggt>Agt p.G208S GPR116_ENST00000265417.7_Missense_Mutation_p.G208S|GPR116_ENST00000456426.2_Missense_Mutation_p.G208S|GPR116_ENST00000362015.4_Missense_Mutation_p.G208S NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 208 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) ATTCCGTAACCCTTCCGGAAC 0.368000 40 72 0 0 0.007835 0 0 PUM1 9698 broad.mit.edu 37 1 31438843 31438843 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:31438843C>T ENST00000373747.3 - 13 2174 c.2075G>A c.(2074-2076)gGg>gAg p.G692E PUM1_ENST00000373741.4_Missense_Mutation_p.G727E|PUM1_ENST00000373742.2_Missense_Mutation_p.G632E|PUM1_ENST00000257075.5_Missense_Mutation_p.G691E|PUM1_ENST00000440538.2_Missense_Mutation_p.G665E|PUM1_ENST00000426105.2_Missense_Mutation_p.G691E|PUM1_ENST00000424085.2_Missense_Mutation_p.G449E|PUM1_ENST00000423018.2_Missense_Mutation_p.G547E NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 691 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGTTCCAAACCCTCCAAGGGC 0.493000 29 63 0 0 0.006320 0 0 OGDHL 55753 broad.mit.edu 37 10 50948771 50948771 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:50948771C>T ENST00000374103.4 - 16 2210 c.2125G>A c.(2125-2127)Gag>Aag p.E709K OGDHL_ENST00000432695.1_Missense_Mutation_p.E500K|OGDHL_ENST00000419399.1_Missense_Mutation_p.E652K NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 709 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 ACTCCGTACTCCGAGAGGGAG 0.647000 8 26 0 0 0.004482 0 0 CECR2 27443 broad.mit.edu 37 22 18028387 18028387 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:18028387C>T ENST00000262608.8 + 16 3347 c.3347C>T c.(3346-3348)cCa>cTa p.P1116L CECR2_ENST00000400585.2_Missense_Mutation_p.P973L|CECR2_ENST00000400573.4_Missense_Mutation_p.P1115L NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1157 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) CACATCAGTCCAGGCCTGCAG 0.587000 10 18 0 0 0.008291 0 0 RALGAPB 57148 broad.mit.edu 37 20 37202877 37202877 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:37202877C>T ENST00000262879.6 + 29 4511 c.4227C>T c.(4225-4227)gcC>gcT p.A1409A RALGAPB_ENST00000397038.1_Silent_p.A1188A|RALGAPB_ENST00000397042.3_Silent_p.A1406A|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397040.1_Silent_p.A1409A Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1409 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTCAAGGAGCCACTGGAAAAT 0.383000 35 99 0 0 0.003271 0 0 TMEM259 91304 broad.mit.edu 37 19 1013325 1013325 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:1013325G>A ENST00000356663.3 - 3 643 c.522C>T c.(520-522)atC>atT p.I174I TMEM259_ENST00000333175.5_Silent_p.I174I NM_001033026.1 NP_001028198.1 transmembrane protein 259 CCTTGGGCTCGATGTCCAGCT 0.632000 24 48 0 0 0.003330 0 0 ARID3A 1820 broad.mit.edu 37 19 971922 971922 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:971922C>T ENST00000263620.3 + 9 1966 c.1639C>T c.(1639-1641)Ccc>Tcc p.P547S NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 547 Important for cytoplasmic localization (By similarity). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) AACCTCTGCTCCCAACAAAGG 0.662000 26 42 0 0 0.004656 0 0 COL4A4 1286 broad.mit.edu 37 2 227914842 227914842 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:227914842C>T ENST00000396625.3 - 34 3363 c.3156G>A c.(3154-3156)gaG>gaA p.E1052E COL4A4_ENST00000329662.7_Silent_p.E1052E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1052 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) GAGAACCTGGCTCACCCTGAC 0.408000 34 42 0 0 0.004878 0 0 RNASE4 6038 broad.mit.edu 37 14 21167874 21167874 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:21167874C>T ENST00000555835.1 + 2 1020 c.344C>T c.(343-345)tCc>tTc p.S115F AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Missense_Mutation_p.S115F|RNASE4_ENST00000304704.4_Missense_Mutation_p.S115F|RNASE4_ENST00000555597.1_Missense_Mutation_p.S115F NM_002937.3 NP_002928.1 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 115 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) ACAGGAAGTTCCAGGGCACCC 0.527000 45 95 0 0 0.003610 0 0 SCAP 22937 broad.mit.edu 37 3 47458865 47458865 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:47458865C>T ENST00000265565.5 - 17 3311 c.2899G>A c.(2899-2901)Gag>Aag p.E967K SCAP_ENST00000441517.2_Missense_Mutation_p.E711K|SCAP_ENST00000545718.1_Missense_Mutation_p.E574K NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 967 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) ATGGAACCCTCGGCACTGGGG 0.716000 4 8 0 0 0.000602 0 0 IGSF10 285313 broad.mit.edu 37 3 151155680 151155680 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:151155680G>A ENST00000282466.3 - 6 6668 c.6669C>T c.(6667-6669)acC>acT p.T2223T IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2223 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGTACATTTTGGTGTCATCCC 0.418000 17 69 0 0 0.004007 0 0 SCG2 7857 broad.mit.edu 37 2 224462184 224462184 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:224462184C>T ENST00000305409.2 - 2 2049 c.1817G>A c.(1816-1818)aGg>aAg p.R606K NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 606 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) AATATGCTCCCTTCCCTTTTC 0.423000 8 88 0 0 0.004482 0 0 ACSL6 23305 broad.mit.edu 37 5 131307271 131307271 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:131307271C>T ENST00000379264.2 - 14 1514 c.1406G>A c.(1405-1407)gGa>gAa p.G469E ACSL6_ENST00000431707.1_Missense_Mutation_p.G424E|ACSL6_ENST00000379244.1_Missense_Mutation_p.G444E|ACSL6_ENST00000544770.1_Missense_Mutation_p.G353E|ACSL6_ENST00000379240.1_Missense_Mutation_p.G444E|ACSL6_ENST00000379272.2_Missense_Mutation_p.G459E|ACSL6_ENST00000296869.4_Missense_Mutation_p.G469E|ACSL6_ENST00000357096.1_Missense_Mutation_p.G369E|ACSL6_ENST00000543479.1_Missense_Mutation_p.G444E|ACSL6_ENST00000379249.3_Missense_Mutation_p.G444E|ACSL6_ENST00000379255.1_Missense_Mutation_p.G369E|ACSL6_ENST00000379246.1_Missense_Mutation_p.G455E NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 444 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCGGAGAAATCCCAGAACTGT 0.512000 10 13 0 0 0.000978 0 0 ZNF251 90987 broad.mit.edu 37 8 145948764 145948764 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:145948764G>T ENST00000292562.7 - 5 556 c.281C>A c.(280-282)tCt>tAt p.S94Y ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CCCAACCTCAGAATCTGTTAA 0.338000 4 13 0.00024832 0.000274122 0.000248 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553181 140553181 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140553181C>T ENST00000231137.3 + 1 939 c.765C>T c.(763-765)agC>agT p.S255S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 255 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGAAAATAGCCCCGTTGGTT 0.507000 14 49 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179425011 179425011 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179425011C>T ENST00000589042.1 - 326 86072 c.85848G>A c.(85846-85848)cgG>cgA p.R28616R TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.R19676R|TTN_ENST00000342175.6_Silent_p.R19743R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.R26975R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.R26048R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.R19551R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26975 Fibronectin type-III 108. 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) CACATCCTTCCCGAAGTCCTG 0.398000 37 36 0 0 0.007835 0 0 MYH6 4624 broad.mit.edu 37 14 23855289 23855289 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:23855289C>T ENST00000405093.3 - 34 5081 c.5011G>A c.(5011-5013)Gag>Aag p.E1671K MYH6_ENST00000356287.3_Missense_Mutation_p.E1671K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1671 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) GCGATGTTCTCCTTCAGGTCG 0.642000 18 40 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179595817 179595817 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179595817C>G ENST00000589042.1 - 60 17799 c.17575G>C c.(17575-17577)Gat>Cat p.D5859H TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D5542H|TTN_ENST00000342992.6_Missense_Mutation_p.D4615H|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5542 Ig-like 39. 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) TCTTGGCCATCTTTAAACCAT 0.413000 34 67 0 0 0.002445 0 0 MGAM 8972 broad.mit.edu 37 7 141740561 141740561 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:141740561G>A ENST00000475668.2 + 21 2467 c.2413G>A c.(2413-2415)Gaa>Aaa p.E805K MGAM_ENST00000549489.2_Missense_Mutation_p.E805K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 805 Maltase. 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) AGTCGAGATGGAACTTCCTGG 0.478000 15 16 0 0 0.002450 0 0 MYH11 4629 broad.mit.edu 37 16 15818560 15818560 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:15818560C>T ENST00000338282.6 - 30 4166 c.4060G>A c.(4060-4062)Gag>Aag p.E1354K NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000342673.5_3'UTR|MYH11_ENST00000452625.2_Missense_Mutation_p.E1361K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1361K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1354K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1354K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1354 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCCATCTCCTCGTCCAGCTGG 0.592000 T CBFB AML 76 85 0 0 0.003610 0 0 EMB 133418 broad.mit.edu 37 5 49695120 49695120 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:49695120G>A ENST00000303221.5 - 9 1186 c.971C>T c.(970-972)tCt>tTt p.S324F EMB_ENST00000514111.1_Missense_Mutation_p.S274F|EMB_ENST00000508934.1_Missense_Mutation_p.S270F NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 324 integral to membrane p.S324C(1) breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CTGGCCCAGAGACTCCTGAGT 0.338000 16 39 0 0 0.008871 0 0 PTPRB 5787 broad.mit.edu 37 12 70956870 70956870 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:70956870C>T ENST00000334414.6 - 16 3966 c.3922G>A c.(3922-3924)Gac>Aac p.D1308N PTPRB_ENST00000538708.1_Missense_Mutation_p.D1000N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1000N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1000N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1090N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1307N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1220N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1090 Fibronectin type-III 15. 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) ATCCTCAGGTCGGTGACAGCT 0.557000 4 10 0 0 0.000248 0 0 MKX 283078 broad.mit.edu 37 10 28024185 28024185 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28024185C>T ENST00000375790.5 - 4 899 c.467G>A c.(466-468)cGg>cAg p.R156Q MKX_ENST00000419761.1_Missense_Mutation_p.R156Q Q8IYA7 MKX_HUMAN mohawk homeobox 156 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TACGCTAAGCCGTTCAGCATT 0.378000 30 66 0 0 0.007291 0 0 SHD 56961 broad.mit.edu 37 19 4280097 4280097 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:4280097G>A ENST00000543264.2 + 1 1500 c.37G>A c.(37-39)Ggt>Agt p.G13S SHD_ENST00000599689.1_Missense_Mutation_p.G13S NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 13 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GAGCTTTGGGGGTCGGAGGCC 0.677000 9 18 0 0 0.008291 0 0 FLG 2312 broad.mit.edu 37 1 152275195 152275195 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:152275195C>T ENST00000368799.1 - 3 12202 c.12167G>A c.(12166-12168)aGa>aAa p.R4056K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 4056 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) GTAATAGTATCTCTGTGACTG 0.328000 Ichthyosis 22 37 0 0 0.003330 0 0 OR5K1 26339 broad.mit.edu 37 3 98188480 98188480 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:98188480C>T ENST00000332650.5 + 1 157 c.60C>T c.(58-60)caC>caT p.H20H NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTACAGATCACCCTGAGCTGA 0.418000 58 38 0 0 0.003610 0 0 KDR 3791 broad.mit.edu 37 4 55981484 55981484 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:55981484G>A ENST00000263923.4 - 4 748 c.453C>T c.(451-453)ctC>ctT p.L151L NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 151 Ig-like C2-type 2. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.L151R(1)|p.L151L(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AAATGGACCCGAGACATGGAA 0.368000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 13 28 0 0 0.002450 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580054 35580054 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:35580054C>T ENST00000373330.1 + 11 2797 c.2623C>T c.(2623-2625)Ctt>Ttt p.L875F ZMYM1_ENST00000359858.4_Missense_Mutation_p.L875F|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 875 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TACAGGAATTCTTTCCAAAGA 0.318000 8 33 0 0 0.003080 0 0 ANKMY1 51281 broad.mit.edu 37 2 241465154 241465154 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:241465154G>A ENST00000391987.1 - 7 1382 c.1016C>T c.(1015-1017)cCc>cTc p.P339L ANKMY1_ENST00000405002.1_Missense_Mutation_p.P109L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.P198L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P428L|ANKMY1_ENST00000373318.2_Missense_Mutation_p.P198L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.P277L|ANKMY1_ENST00000405523.3_Missense_Mutation_p.P198L|ANKMY1_ENST00000536462.1_Missense_Mutation_p.P151L|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P339L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.P198L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.P109L Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 339 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGACTGGGCGGGGTAGTGGAG 0.577000 11 39 0 0 0.000978 0 0 RBMS2 5939 broad.mit.edu 37 12 56980652 56980652 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:56980652C>T ENST00000262031.5 + 10 988 c.893C>T c.(892-894)cCt>cTt p.P298L RBMS2_ENST00000550726.1_Missense_Mutation_p.P173L|RBMS2_ENST00000542360.1_Missense_Mutation_p.P153L|RBMS2_ENST00000552247.2_Intron NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 298 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 CAGACATCTCCTCTACAAGTA 0.413000 51 91 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25304622 25304622 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25304622G>A ENST00000549804.2 + 0 98 AGGTCTTTAAGGTCGTCAGCT 0.502000 5 42 0 0 0.000602 0 0 SPEM1 374768 broad.mit.edu 37 17 7323961 7323961 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:7323961C>T ENST00000323675.3 + 2 185 c.160C>T c.(160-162)Cgt>Tgt p.R54C RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 54 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GAGCCGATTCCGTGGTGTCTT 0.582000 33 28 0 0 0.002445 0 0 CHAT 1103 broad.mit.edu 37 10 50873084 50873084 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:50873084C>A ENST00000395562.2 + 16 2462 c.1993C>A c.(1993-1995)Caa>Aaa p.Q665K CHAT_ENST00000455728.2_Intron|CHAT_ENST00000395559.2_Missense_Mutation_p.Q629K|CHAT_ENST00000337653.2_Missense_Mutation_p.Q747K|CHAT_ENST00000339797.1_Missense_Mutation_p.Q629K|CHAT_ENST00000351556.3_Missense_Mutation_p.Q629K NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 747 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCAGGGACACCAACCTTGACT 0.572000 14 60 4.93089e-13 5.49695e-13 0.002450 1 0 SCAND3 114821 broad.mit.edu 37 6 28541028 28541028 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:28541028C>T ENST00000452236.2 - 4 3255 c.2638G>A c.(2638-2640)Gaa>Aaa p.E880K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 880 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 ttagccagttcctgaatacgt 0.383000 38 71 0 0 0.008740 0 0 JUP 3728 broad.mit.edu 37 17 39777023 39777023 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:39777023G>A ENST00000540235.1 - 9 1545 c.1546C>T c.(1546-1548)Cgc>Tgc p.R516C KRT17_ENST00000311208.8_Missense_Mutation_p.R357C P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) ATCTCGCAGCGAAGCTGGGCC 0.627000 26 41 0 0 0.004656 0 0 CYP2C19 1557 broad.mit.edu 37 10 96535268 96535268 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:96535268C>T ENST00000371321.3 + 3 535 c.453C>T c.(451-453)tgC>tgT p.C151C CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 151 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) AAGCCCGCTGCCTTGTGGAGG 0.507000 63 77 0 0 0.003610 0 0 MYO1F 4542 broad.mit.edu 37 19 8604837 8604837 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:8604837C>T ENST00000338257.8 - 16 1953 c.1686G>A c.(1684-1686)aaG>aaA p.K562K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 562 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCACCTTGATCTTGGAGCCGG 0.632000 24 28 0 0 0.007291 0 0 UNC13C 440279 broad.mit.edu 37 15 54307723 54307723 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:54307723G>A ENST00000545554.1 + 1 2623 c.2623G>A c.(2623-2625)Gaa>Aaa p.E875K UNC13C_ENST00000537900.1_Missense_Mutation_p.E875K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E875K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 875 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) GGCTGACAATGAAACAGATTA 0.388000 31 51 0 0 0.008361 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561910 145561910 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:145561910C>T ENST00000355594.4 + 10 1685 c.1598C>T c.(1597-1599)gCc>gTc p.A533V NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 533 Poly-Ala. NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCAGCAGCTGCCTGGGAGAAG 0.632000 52 107 0 0 0.003610 0 0 TMEM131 23505 broad.mit.edu 37 2 98411450 98411450 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:98411450G>A ENST00000186436.5 - 29 3557 c.3329C>T c.(3328-3330)gCc>gTc p.A1110V NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1110 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCTGGGTAGGGCTTCTGCACA 0.388000 5 19 0 0 0.000602 0 0 RASA2 5922 broad.mit.edu 37 3 141291480 141291480 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:141291480C>T ENST00000286364.3 + 12 1234 c.1199C>T c.(1198-1200)tCc>tTc p.S400F RASA2_ENST00000452898.1_Missense_Mutation_p.S400F Q15283 RASA2_HUMAN RAS p21 protein activator 2 400 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.S400F(2) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 AGAGGAAATTCCCTGGCTACC 0.343000 18 22 0 0 0.007413 0 0 SOBP 55084 broad.mit.edu 37 6 107954978 107954978 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:107954978G>A ENST00000317357.5 + 6 1589 c.930G>A c.(928-930)aaG>aaA p.K310K NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 310 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CTCGGAGGAAGGCCCCCTCCC 0.602000 23 33 0 0 0.002299 0 0 PABPC1L 80336 broad.mit.edu 37 20 43550244 43550244 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:43550244C>T ENST00000255136.3 + 6 830 c.748C>T c.(748-750)Cat>Tat p.H250Y PABPC1L_ENST00000217074.4_Missense_Mutation_p.H250Y|PABPC1L_ENST00000217073.2_Missense_Mutation_p.H250Y|PABPC1L_ENST00000537323.1_Missense_Mutation_p.H250Y NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 250 RRM 3. nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 GGCCGTGGTCCATATGAACGG 0.612000 47 117 0 0 0.003610 0 0 KCNK18 338567 broad.mit.edu 37 10 118969163 118969163 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:118969163C>T ENST00000334549.1 + 3 508 c.508C>T c.(508-510)Cct>Tct p.P170S NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 170 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CCGAAAATTCCCTTTCTTTAC 0.507000 58 66 0 0 0.003610 0 0 HPS4 89781 broad.mit.edu 37 22 26849355 26849355 + Silent SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:26849355A>C ENST00000398145.2 - 14 2587 c.1971T>G c.(1969-1971)gcT>gcG p.A657A HPS4_ENST00000402105.3_Silent_p.A652A|HPS4_ENST00000398141.1_Silent_p.A670A|HPS4_ENST00000336873.5_Silent_p.A657A|HPS4_ENST00000493455.2_Intron NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 657 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 AGGCGTACACAGCCGTGGAGG 0.552000 Hermansky-Pudlak syndrome 33 63 0 0 0.004289 0 0 PLIN4 729359 broad.mit.edu 37 19 4512668 4512668 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:4512668G>A ENST00000301286.3 - 3 1261 c.1262C>T c.(1261-1263)aCc>aTc p.T421I NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 421 27 X 33 AA approximate tandem repeat. T -> A (in dbSNP:rs55901236). lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ACTGCAGACGGTGTCCTTTGT 0.552000 45 66 0 0 0.003610 0 0 LRRC10 376132 broad.mit.edu 37 12 70003895 70003895 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:70003895C>T ENST00000361484.3 - 1 1047 c.724G>A c.(724-726)Gag>Aag p.E242K NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 242 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GGCGTCTCCTCTGCCCATCTC 0.592000 26 39 0 0 0.004656 0 0 SLC6A18 348932 broad.mit.edu 37 5 1242957 1242957 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:1242957C>T ENST00000324642.3 + 8 1233 c.1110C>T c.(1108-1110)ctC>ctT p.L370L SLC6A18_ENST00000296821.4_Intron NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 370 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGGCCTGCCTCCTGGAAGACT 0.657000 24 48 0 0 0.005443 0 0 STON2 85439 broad.mit.edu 37 14 81862514 81862514 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:81862514C>T ENST00000555447.1 - 4 509 c.97G>A c.(97-99)Gaa>Aaa p.E33K STON2_ENST00000267540.2_Missense_Mutation_p.E33K NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 33 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) AGGTGCTCTTCCGTGCCCCCT 0.572000 12 20 0 0 0.002450 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181021 19181021 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:19181021C>T ENST00000375371.3 - 3 964 c.943G>A c.(943-945)Gag>Aag p.E315K RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 315 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGGCGCAGCTCCGTGAGGTTG 0.657000 19 34 0 0 0.007413 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99052382 99052382 + Translation_Start_Site SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:99052382C>A ENST00000453547.2 - 1 2 c.3G>T c.(1-3)atG>atT p.M1I ARHGAP19_ENST00000358531.4_Start_Codon_SNP_p.M1I|ARHGAP19-SLIT1_ENST00000316676.8_Start_Codon_SNP_p.M1I|ARHGAP19-SLIT1_ENST00000358308.3_Start_Codon_SNP_p.M1I CCTCAGTCGCCATCTTCGTCA 0.572000 8 37 0.000274275 0.000302595 0.004482 1 0 PRKCB 5579 broad.mit.edu 37 16 24192149 24192149 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:24192149G>A ENST00000303531.7 + 13 1585 c.1433G>A c.(1432-1434)gGa>gAa p.G478E PRKCB_ENST00000321728.7_Missense_Mutation_p.G478E NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 478 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GATTCTGAGGGACACATCAAG 0.448000 11 74 0 0 0.000978 0 0 DCC 1630 broad.mit.edu 37 18 50918214 50918214 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:50918214C>T ENST00000442544.2 + 17 3261 c.2645C>T c.(2644-2646)aCc>aTc p.T882I DCC_ENST00000412726.1_Missense_Mutation_p.T710I|DCC_ENST00000581580.1_Missense_Mutation_p.T517I NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 882 Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CGACTTTACACCGTCCGGTGG 0.448000 30 40 0 0 0.007291 0 0 ABCC4 10257 broad.mit.edu 37 13 95858788 95858788 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:95858788G>A ENST00000376887.4 - 8 1273 c.1159C>T c.(1159-1161)Cag>Tag p.Q387* ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q387*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q312*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q387* NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 387 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) ACACCAACCTGGATTCTTCGG 0.468000 36 56 0 0 0.006999 0 0 SIN3B 23309 broad.mit.edu 37 19 16977229 16977229 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:16977229C>T ENST00000379803.1 + 13 1778 c.1764C>T c.(1762-1764)ttC>ttT p.F588F SIN3B_ENST00000248054.5_Silent_p.F556F|SIN3B_ENST00000595541.1_Silent_p.F146F NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 588 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 AGCAGGGCTTCAACAAGATCT 0.607000 22 35 0 0 0.002299 0 0 MAP3K8 1326 broad.mit.edu 37 10 30747036 30747036 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:30747036C>T ENST00000263056.1 + 7 1593 c.897C>T c.(895-897)atC>atT p.I299I MAP3K8_ENST00000542547.1_Silent_p.I299I|MAP3K8_ENST00000375321.1_Silent_p.I299I NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 299 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) CAGAGGTCATCCTGTGCAGGG 0.537000 32 35 0 0 0.006230 0 0 PTPRG 5793 broad.mit.edu 37 3 62142809 62142809 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:62142809C>T ENST00000474889.1 + 7 1128 c.751C>T c.(751-753)Cgg>Tgg p.R251W PTPRG_ENST00000295874.10_Missense_Mutation_p.R251W NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 251 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CAGCTATTATCGGTACACAGG 0.512000 39 74 0 0 0.006230 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779173 31779173 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:31779173C>T ENST00000375654.4 - 2 766 c.577G>A c.(577-579)Gga>Aga p.G193R HSPA1L_ENST00000417199.3_Missense_Mutation_p.G193R NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 193 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TGTCGTTCTCCTTGACCTCCT 0.453000 190 353 0 0 0.003610 0 0 SLC9B2 133308 broad.mit.edu 37 4 103987640 103987640 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:103987640C>T ENST00000394785.3 - 3 746 c.115G>A c.(115-117)Ggt>Agt p.G39S SLC9B2_ENST00000339611.4_Missense_Mutation_p.G39S|SLC9B2_ENST00000362026.3_Missense_Mutation_p.G39S|SLC9B2_ENST00000503103.1_Missense_Mutation_p.G39S|SLC9B2_ENST00000503230.1_Missense_Mutation_p.G39S|SLC9B2_ENST00000505838.1_5'UTR NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 39 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity GCATCTATACCTTTGAGCTTC 0.323000 28 68 0 0 0.008361 0 0 CTR9 9646 broad.mit.edu 37 11 10773005 10773005 + Splice_Site SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:10773005G>T ENST00000361367.2 + 1 471 c.e1+1 NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CACTGACGAGGTAAGTGTCGT 0.622000 14 17 1.5739e-10 1.75196e-10 0.004007 1 0 LRRN1 57633 broad.mit.edu 37 3 3887534 3887534 + Silent SNP C C T rs113247781 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:3887534C>T ENST00000319331.3 + 2 1970 c.1209C>T c.(1207-1209)ccC>ccT p.P403P SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 403 LRRCT. integral to membrane p.P403P(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CCATGCCGCCCGAATATAAAG 0.493000 20 77 0 0 0.008871 0 0 ZNF536 9745 broad.mit.edu 37 19 30935917 30935917 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:30935917G>A ENST00000355537.3 + 2 1595 c.1448G>A c.(1447-1449)gGg>gAg p.G483E NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 483 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) GTCCCGGAGGGGGACAAGCAC 0.652000 24 51 0 0 0.003954 0 0 PKD2 5311 broad.mit.edu 37 4 88959628 88959628 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:88959628C>T ENST00000237596.2 + 4 1135 c.1069C>T c.(1069-1071)Ccc>Tcc p.P357S NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 357 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) AGATAGGGCTCCCTTTGGGCC 0.458000 33 69 0 0 0.004289 0 0 OR6C65 403282 broad.mit.edu 37 12 55794584 55794584 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:55794584C>T ENST00000379665.2 + 1 371 c.272C>T c.(271-273)tCc>tTc p.S91F NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S91F(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 ACAACCATTTCCTATAATGCT 0.353000 33 59 0 0 0.004289 0 0 HTR1A 3350 broad.mit.edu 37 5 63256578 63256578 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:63256578C>T ENST00000323865.3 - 1 1202 c.969G>A c.(967-969)agG>agA p.R323R RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 323 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCTCATTTTTCCTCTCGAAAG 0.607000 28 53 0 0 0.001786 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811415 5811415 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:5811415T>A ENST00000381095.3 - 6 2521 c.1894A>T c.(1894-1896)Ata>Tta p.I632L NLGN4X_ENST00000275857.6_Missense_Mutation_p.I632L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I632L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I632L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I652L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 632 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GTTGGCCATATCTTGGCGGGA 0.502000 29 53 0 0 0.003755 0 0 SOBP 55084 broad.mit.edu 37 6 107955595 107955595 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:107955595C>T ENST00000317357.5 + 6 2206 c.1547C>T c.(1546-1548)cCg>cTg p.P516L NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 516 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TCGCTTGCCCCGCTGGTGCCG 0.677000 4 2 0 0 0.000602 0 0 SLC8A1 6546 broad.mit.edu 37 2 40405527 40405527 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:40405527C>T ENST00000542756.1 - 3 1938 c.1915_splice c.e3+1 p.A639_splice SLC8A1_ENST00000332839.4_Splice_Site_p.A639_splice|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000403092.1_Splice_Site_p.A639_splice|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405901.3_Splice_Site_p.A639_splice|SLC8A1-AS1_ENST00000435515.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 639 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) GCTCCCCCACCTTTCTTCTCA 0.512000 89 80 0 0 0.003610 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115861 220115861 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:220115861G>A ENST00000392088.2 - 4 1070 c.515C>T c.(514-516)tCt>tTt p.S172F TUBA4A_ENST00000248437.4_Missense_Mutation_p.S187F|TUBA4A_ENST00000498660.1_5'UTR NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 187 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCAGGATAGAGTTGTAGGG 0.552000 40 63 0 0 0.008740 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881021 142881021 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:142881021C>T ENST00000446620.1 + 1 510 c.510C>T c.(508-510)ttC>ttT p.F170F NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 170 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TTATTTCCTTCAGTCACAGCA 0.433000 29 54 0 0 0.005443 0 0 TRHDE 29953 broad.mit.edu 37 12 72956677 72956677 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:72956677G>A ENST00000261180.4 + 9 1860 c.1764G>A c.(1762-1764)atG>atA p.M588I TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 588 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AAGAAGTAATGGATCAGTGGA 0.303000 20 81 0 0 0.002299 0 0 PTX4 390667 broad.mit.edu 37 16 1537410 1537410 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:1537410C>T ENST00000447419.2 - 2 728 c.703G>A c.(703-705)Gag>Aag p.E235K PTX4_ENST00000293922.1_Missense_Mutation_p.E230K|PTX4_ENST00000440447.2_Intron Q96A99 PTX4_HUMAN pentraxin 4, long 235 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GCTGGAGGCTCCCGCCTCCCT 0.662000 32 22 0 0 0.002445 0 0 GANC 2595 broad.mit.edu 37 15 42641675 42641675 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:42641675C>T ENST00000318010.8 + 22 2753 c.2513C>T c.(2512-2514)tCc>tTc p.S838F RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 838 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TCATTCTGTTCCAGTGTTCTG 0.398000 39 68 0 0 0.006999 0 0 MGMT 4255 broad.mit.edu 37 10 131565116 131565116 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:131565116G>A ENST00000306010.7 + 5 604 c.572G>A c.(571-573)gGa>gAa p.G191E NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 191 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) AACTACTCCGGAGGACTGGCC 0.652000 Direct reversal of damage 7 22 0 0 0.003080 0 0 USB1 79650 broad.mit.edu 37 16 58043978 58043978 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:58043978C>T ENST00000219281.3 + 3 522 c.411C>T c.(409-411)ttC>ttT p.F137F USB1_ENST00000423271.3_Silent_p.F137F|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Silent_p.F137F|USB1_ENST00000561743.1_Silent_p.F86F|USB1_ENST00000563149.1_Silent_p.F137F NM_024598.3 NP_078874.2 U6 snRNA biogenesis 1 TCCTCCCCTTCGTGCAGGCTC 0.602000 25 33 0 0 0.007291 0 0 CACNB2 783 broad.mit.edu 37 10 18828607 18828607 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:18828607G>A ENST00000396576.2 + 13 2273 c.1772G>A c.(1771-1773)cGg>cAg p.R591Q CACNB2_ENST00000377319.3_Missense_Mutation_p.R553Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.R592Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R622Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.R646Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.R598Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.R396Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.R618Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.R594Q NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 646 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCAAAAAAACGGAATGAGGCT 0.428000 40 48 0 0 0.002852 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169539882 169539882 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:169539882A>C ENST00000340806.6 + 1 173 c.173A>C c.(172-174)aAc>aCc p.N58T NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 58 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TTGGAGAATAACCAGATTGAA 0.448000 28 75 0 0 0.007291 0 0 NCOA2 10499 broad.mit.edu 37 8 71039106 71039106 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:71039106C>T ENST00000452400.2 - 19 4039 c.3858G>A c.(3856-3858)atG>atA p.M1286I NCOA2_ENST00000267974.4_Missense_Mutation_p.M374I NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1286 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GAGGGTTGCTCATAGTTGCTG 0.488000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 17 35 0 0 0.007413 0 0 CRIM1 51232 broad.mit.edu 37 2 36740728 36740728 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:36740728C>T ENST00000280527.2 + 11 2177 c.1810C>T c.(1810-1812)Ctg>Ttg p.L604L NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 604 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GCCACCCATCCTGTCGGGCAC 0.537000 49 54 0 0 0.003610 0 0 CCDC40 55036 broad.mit.edu 37 17 78073401 78073401 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:78073401C>T ENST00000397545.4 + 20 3283 c.3256C>T c.(3256-3258)Ctg>Ttg p.L1086L NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1086 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CTACGTGTTCCTGTTCCGCTC 0.607000 8 56 0 0 0.003080 0 0 FRAS1 80144 broad.mit.edu 37 4 79366681 79366681 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:79366681C>T ENST00000264895.6 + 42 6111 c.5671C>T c.(5671-5673)Cgt>Tgt p.R1891C FRAS1_ENST00000325942.6_Missense_Mutation_p.R1891C NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1890 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 TGCAGGTGATCGTTTTGGCCC 0.393000 18 43 0 0 0.004990 0 0 C1orf94 84970 broad.mit.edu 37 1 34663070 34663070 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:34663070G>A ENST00000488417.1 + 2 685 c.565G>A c.(565-567)Gtg>Atg p.V189M C1orf94_ENST00000373374.3_5'UTR NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 0 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) GAAGCAGAAGGTGGCCATGCC 0.572000 20 47 0 0 0.001882 0 0 AURKC 6795 broad.mit.edu 37 19 57743452 57743452 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57743452G>A ENST00000302804.7 + 3 342 c.156G>A c.(154-156)ggG>ggA p.G52G AURKC_ENST00000599062.1_Silent_p.G49G|AURKC_ENST00000415300.2_Silent_p.G33G|AURKC_ENST00000598785.1_Silent_p.G18G|AURKC_ENST00000448930.1_Silent_p.G18G NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 52 Protein kinase. G -> E (in a lung adenocarcinoma sample; somatic mutation). cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TGGGCAAGGGGAAATTTGGGA 0.547000 16 43 0 0 0.006122 0 0 PKM 5315 broad.mit.edu 37 15 72502030 72502030 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:72502030G>A ENST00000319622.6 - 5 1005 c.549C>T c.(547-549)ctC>ctT p.L183L PKM_ENST00000568883.1_Intron|PKM_ENST00000449901.2_Silent_p.L168L|PKM_ENST00000565154.1_Silent_p.L183L|PKM_ENST00000389093.3_Silent_p.L183L|PKM_ENST00000565184.1_Silent_p.L183L|PKM_ENST00000335181.5_Silent_p.L183L|PKM_ENST00000568459.1_Silent_p.L183L NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 GCTTCACCTGGAGAGAAATAA 0.473000 69 131 0 0 0.003610 0 0 IL16 3603 broad.mit.edu 37 15 81578072 81578072 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:81578072C>T ENST00000394660.2 + 10 1593 c.1233C>T c.(1231-1233)tcC>tcT p.S411S IL16_ENST00000302987.4_Silent_p.S411S NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 411 Interaction with GRIN2A.|PDZ 2. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TCAGTGATTCCCCTGTGCACT 0.507000 36 55 0 0 0.004289 0 0 OR51I2 390064 broad.mit.edu 37 11 5475610 5475610 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5475610G>A ENST00000341449.2 + 1 973 c.892G>A c.(892-894)Gaa>Aaa p.E298K AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGACAAAGGAAATCCGCCG 0.438000 58 113 0 0 0.003610 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021110 142021110 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:142021110G>A ENST00000390381.3 + 0 399 CAAGATATCTGATCAAAACGA 0.547000 15 23 0 0 0.003163 0 0 OR8K3 219473 broad.mit.edu 37 11 56086643 56086643 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56086643G>A ENST00000312711.1 + 1 861 c.861G>A c.(859-861)ttG>ttA p.L287L NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TGAATCCCTTGATCTATAGTT 0.353000 11 31 0 0 0.001368 0 0 CHTF18 63922 broad.mit.edu 37 16 843212 843212 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:843212G>A ENST00000317063.6 + 15 2310 c.2310G>A c.(2308-2310)aaG>aaA p.K770K CHTF18_ENST00000262315.9_Silent_p.K580K|CHTF18_ENST00000455171.2_Silent_p.K608K Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 580 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) TGGGCCTCAAGGACCAGCGCA 0.687000 8 7 0 0 0.004482 0 0 THBS4 7060 broad.mit.edu 37 5 79357628 79357628 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:79357628G>A ENST00000350881.2 + 8 1288 c.1098G>A c.(1096-1098)ggG>ggA p.G366G CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.G275G NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 366 EGF-like 2; calcium-binding (Potential). endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) AGGGTGTTGGGATCAGTTTTG 0.507000 18 26 0 0 0.004990 0 0 LUM 4060 broad.mit.edu 37 12 91502721 91502721 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:91502721C>T ENST00000266718.4 - 2 490 c.36G>A c.(34-36)ttG>ttA p.L12L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 12 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TACCACCAATCAATGCCAGGA 0.343000 10 22 0 0 0.008291 0 0 RAB22A 57403 broad.mit.edu 37 20 56928332 56928332 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:56928332C>T ENST00000244040.3 + 4 483 c.202C>T c.(202-204)Cgt>Tgt p.R68C NM_020673.2 NP_065724.1 Q9UL26 RB22A_HUMAN RAB22A, member RAS oncogene family 68 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) TCTGCAGTTTCGTGCCTTAGC 0.343000 38 48 0 0 0.008740 0 0 NLRP8 126205 broad.mit.edu 37 19 56463966 56463966 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56463966G>A ENST00000291971.3 + 2 501 c.430G>A c.(430-432)Gaa>Aaa p.E144K NLRP8_ENST00000590542.1_Missense_Mutation_p.E144K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 144 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAATCTGGAGGAAGGAGAATC 0.483000 27 72 0 0 0.002096 0 0 IFLTD1 160492 broad.mit.edu 37 12 25699394 25699394 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:25699394C>T ENST00000539744.1 - 4 530 c.51G>A c.(49-51)aaG>aaA p.K17K IFLTD1_ENST00000445693.1_Silent_p.K51K|IFLTD1_ENST00000458174.2_Silent_p.K135K|IFLTD1_ENST00000282881.6_Silent_p.K114K|IFLTD1_ENST00000413632.2_Silent_p.K135K NM_001256266.1 NP_001243195.1 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 114 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) CTGTAAGTTTCTTTGAATCAC 0.368000 22 37 0 0 0.002299 0 0 THBS1 7057 broad.mit.edu 37 15 39877740 39877740 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:39877740G>A ENST00000260356.5 + 7 1261 c.1096G>A c.(1096-1098)Gga>Aga p.G366R NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 366 VWFC. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) AGTTCCTGATGGAGAATGCTG 0.502000 30 35 0 0 0.004289 0 0 IL4R 3566 broad.mit.edu 37 16 27375055 27375055 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:27375055C>T ENST00000395762.2 + 11 2641 c.2382C>T c.(2380-2382)tcC>tcT p.S794S IL4R_ENST00000170630.2_Silent_p.S794S|IL4R_ENST00000380922.3_Silent_p.S779S|IL4R_ENST00000543915.2_Silent_p.S794S NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 794 Poly-Ser. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CCTCATCATCCTTCCATCCTG 0.587000 18 70 0 0 0.006122 0 0 DCC 1630 broad.mit.edu 37 18 50450136 50450136 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:50450136G>A ENST00000442544.2 + 4 1373 c.757G>A c.(757-759)Gaa>Aaa p.E253K DCC_ENST00000412726.1_Missense_Mutation_p.E101K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 253 Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.E253*(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGTAGCCATTGAAGGAAAAGA 0.423000 29 25 0 0 0.007291 0 0 PPP1CB 5500 broad.mit.edu 37 2 29001786 29001786 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:29001786C>T ENST00000395366.2 + 3 568 c.296C>T c.(295-297)tCt>tTt p.S99F PPP1CB_ENST00000296122.6_Missense_Mutation_p.S99F|PPP1CB_ENST00000358506.2_Missense_Mutation_p.S99F NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 99 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GGAAAGCAGTCTTTGGAAACC 0.368000 31 29 0 0 0.001786 0 0 SRRM2 23524 broad.mit.edu 37 16 2814308 2814308 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:2814308T>C ENST00000301740.8 + 11 4328 c.3779T>C c.(3778-3780)cTt>cCt p.L1260P NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1260 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TCTTCAGAACTTAAAGAAATG 0.443000 40 138 0 0 0.006230 0 0 STAB2 55576 broad.mit.edu 37 12 104046444 104046444 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:104046444C>T ENST00000388887.2 + 12 1572 c.1368C>T c.(1366-1368)acC>acT p.T456T NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 456 FAS1 1. 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 TGTTCTACACCTTGACTGGAA 0.398000 13 35 0 0 0.004007 0 0 SYT3 84258 broad.mit.edu 37 19 51129204 51129204 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:51129204G>A ENST00000338916.4 - 5 1985 c.1352C>T c.(1351-1353)aCc>aTc p.T451I SYT3_ENST00000600079.1_Missense_Mutation_p.T451I|SYT3_ENST00000593901.1_Missense_Mutation_p.T451I|SYT3_ENST00000544769.1_Missense_Mutation_p.T451I NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 451 C2 2. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TTTGATGATGGTCACGGTGAG 0.592000 7 36 0 0 0.003080 0 0 SLC13A3 64849 broad.mit.edu 37 20 45221074 45221074 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:45221074T>G ENST00000279027.4 - 6 907 c.889A>C c.(889-891)Atc>Ctc p.I297L SLC13A3_ENST00000396360.1_Missense_Mutation_p.I250L|SLC13A3_ENST00000372121.1_Missense_Mutation_p.I247L|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.I250L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I250L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I250L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.I247L NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 297 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) AGGAAGGAGATCCAGAGCCAG 0.507000 22 29 0 0 0.002780 0 0 OR51I2 390064 broad.mit.edu 37 11 5474973 5474973 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5474973C>T ENST00000341449.2 + 1 336 c.255C>T c.(253-255)ttC>ttT p.F85F AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCGAACCTTCTGCCTCAATG 0.488000 29 121 0 0 0.002836 0 0 BPIFA1 51297 broad.mit.edu 37 20 31828038 31828038 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:31828038G>A ENST00000354297.4 + 5 499 c.e5-1 BPIFA1_ENST00000375422.2_Splice_Site|BPIFA1_ENST00000375413.4_Splice_Site NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 innate immune response extracellular region lipid binding p.?(1) CTCCTTTGCAGGCCCCTGGTC 0.527000 84 156 0 0 0.003610 0 0 IMPG1 3617 broad.mit.edu 37 6 76660288 76660288 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:76660288G>A ENST00000369950.3 - 13 2004 c.1815C>T c.(1813-1815)ttC>ttT p.F605F IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 605 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCAGCTGTGTGAATTGTTGCT 0.433000 11 26 0 0 0.001368 0 0 BRCA2 675 broad.mit.edu 37 13 32930715 32930715 + Missense_Mutation SNP G G A rs120074200 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:32930715G>A ENST00000544455.1 + 15 7813 c.7586G>A c.(7585-7587)gGc>gAc p.G2529D BRCA2_ENST00000380152.3_Missense_Mutation_p.G2529D NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2529 Interaction with FANCD2. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GCAGTAGGAGGCCAAGTTCCC 0.418000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 34 69 0 0 0.002836 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204236603 204236603 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:204236603C>T ENST00000272203.3 - 5 596 c.280_splice c.e5+1 p.D94_splice PLEKHA6_ENST00000414478.1_Splice_Site_p.D94_splice NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 94 PH. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCAAGCTCACCTTTATAGTAG 0.577000 21 40 0 0 0.001882 0 0 HHIP 64399 broad.mit.edu 37 4 145567837 145567837 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:145567837A>C ENST00000296575.3 + 1 665 c.10A>C c.(10-12)Atg>Ctg p.M4L HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.M4L NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 4 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GATGCTGAAGATGCTCTCCTT 0.627000 OREG0016346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 69 0 0 0.002522 0 0 GALNTL5 168391 broad.mit.edu 37 7 151668142 151668142 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:151668142G>A ENST00000392800.2 + 3 614 c.360G>A c.(358-360)agG>agA p.R120R GALNTL5_ENST00000431418.2_Silent_p.R120R NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 120 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CAGATACCAGGAGTAAAATGT 0.328000 7 34 0 0 0.001984 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781825 128781825 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:128781825C>T ENST00000529694.1 + 2 1033 c.657C>T c.(655-657)ttC>ttT p.F219F KCNJ5_ENST00000338350.4_Silent_p.F219F|KCNJ5_ENST00000533599.1_Silent_p.F219F NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 219 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GCCTCATGTTCCGGGTGGGCG 0.587000 23 24 0 0 0.002780 0 0 EFCAB6 64800 broad.mit.edu 37 22 44068170 44068170 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:44068170G>A ENST00000262726.7 - 14 1688 c.1435C>T c.(1435-1437)Ccc>Tcc p.P479S EFCAB6_ENST00000396231.2_Missense_Mutation_p.P327S NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 479 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) TCTGTACAGGGAGATGTCTTT 0.428000 16 28 0 0 0.006122 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844625 28844625 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:28844625C>T ENST00000336783.4 + 14 2072 c.1905C>T c.(1903-1905)ccC>ccT p.P635P RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Silent_p.P641P|ATXN2L_ENST00000570200.1_Silent_p.P635P|ATXN2L_ENST00000395547.2_Silent_p.P635P|ATXN2L_ENST00000382686.4_Silent_p.P635P|ATXN2L_ENST00000340394.8_Silent_p.P635P|ATXN2L_ENST00000325215.6_Silent_p.P635P NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 635 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CTGGCAGCCCCCCGGTGGGCC 0.632000 13 38 0 0 0.001855 0 0 KDM6B 23135 broad.mit.edu 37 17 7750924 7750924 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:7750924C>T ENST00000254846.5 + 11 1707 c.1318C>T c.(1318-1320)Ccc>Tcc p.P440S KDM6B_ENST00000448097.2_Missense_Mutation_p.P440S NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 440 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCGCCTGGGGCCCTCGGCACA 0.662000 7 13 0 0 0.003080 0 0 ITK 3702 broad.mit.edu 37 5 156608032 156608032 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:156608032C>T ENST00000422843.3 + 1 196 c.44C>T c.(43-45)tCc>tTc p.S15F NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 15 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCAAGAAATCCCAACAAAAG 0.448000 T SYK peripheral T-cell lymphoma 53 225 0 0 0.003610 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249015 140249015 + Silent SNP C C T rs73793507 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140249015C>T ENST00000398640.2 + 1 327 c.327C>T c.(325-327)atC>atT p.I109I PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_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) TGGAGGTGATCGTGGACAGGC 0.547000 40 176 0 0 0.007835 0 0 GAK 2580 broad.mit.edu 37 4 843549 843549 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:843549G>A ENST00000314167.4 - 28 3958 c.3848C>T c.(3847-3849)cCg>cTg p.P1283L GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.P1204L NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1283 J. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CTGCTCGTACGGCTGCCCCGC 0.672000 6 25 0 0 0.001984 0 0 VPS13A 23230 broad.mit.edu 37 9 79959077 79959077 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:79959077C>T ENST00000360280.3 + 51 7295 c.7035C>T c.(7033-7035)ccC>ccT p.P2345P VPS13A_ENST00000376634.4_Silent_p.P2345P|VPS13A_ENST00000376636.3_Silent_p.P2306P|VPS13A_ENST00000357409.5_Silent_p.P2345P NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2345 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 AGTGTATCCCCTTTTGGCCTG 0.284000 19 23 0 0 0.006122 0 0 SCNN1G 6340 broad.mit.edu 37 16 23223406 23223406 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:23223406G>T ENST00000300061.2 + 8 1371 c.1228G>T c.(1228-1230)Gcc>Tcc p.A410S CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 410 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ATGTGGGTGTGCCCAGTACAG 0.542000 32 42 5.90632e-09 6.55301e-09 0.002445 1 0 AKR1D1 6718 broad.mit.edu 37 7 137791374 137791374 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:137791374C>T ENST00000242375.3 + 6 642 c.600C>T c.(598-600)ttC>ttT p.F200F AKR1D1_ENST00000432161.1_Silent_p.F200F|AKR1D1_ENST00000411726.2_Silent_p.F159F|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 200 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 ATCCGTATTTCACCCAGCCAA 0.403000 16 46 0 0 0.007413 0 0 ITGA11 22801 broad.mit.edu 37 15 68657105 68657105 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:68657105C>T ENST00000423218.2 - 4 392 c.297G>A c.(295-297)cgG>cgA p.R99R ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Silent_p.R99R Q9UKX5 ITA11_HUMAN integrin, alpha 11 99 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) TGTTGTCTTTCCGCTCGGACA 0.637000 31 45 0 0 0.003755 0 0 DSG3 1830 broad.mit.edu 37 18 29054340 29054340 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29054340G>A ENST00000257189.4 + 15 2441 c.2358G>A c.(2356-2358)atG>atA p.M786I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 786 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) CGATAAGCATGAATTTTCTGG 0.398000 19 65 0 0 0.001882 0 0 OR4D11 219986 broad.mit.edu 37 11 59271968 59271968 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:59271968C>T ENST00000313253.1 + 1 920 c.920C>T c.(919-921)cCt>cTt p.P307L NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P307L(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 AGACTCGTGCCTTCTGAAAGG 0.522000 11 21 0 0 0.000978 0 0 GPR174 84636 broad.mit.edu 37 X 78426748 78426748 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:78426748C>T ENST00000276077.1 + 1 280 c.244C>T c.(244-246)Cat>Tat p.H82Y NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 82 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CTACTTGAATCATGACTGGCC 0.418000 HNSCC(63;0.18) 16 8 0 0 0.003163 0 0 IKBKB 3551 broad.mit.edu 37 8 42174335 42174335 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:42174335C>T ENST00000520810.1 + 11 1224 c.1038C>T c.(1036-1038)atC>atT p.I346I IKBKB_ENST00000416505.2_Silent_p.I287I|IKBKB_ENST00000379708.3_Silent_p.I123I|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.I344I NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 346 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ACACGGGCATCCCAGAGGAGG 0.577000 17 30 0 0 0.004007 0 0 ABCC12 94160 broad.mit.edu 37 16 48130803 48130803 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:48130803A>G ENST00000311303.3 - 22 3394 c.3049T>C c.(3049-3051)Tac>Cac p.Y1017H ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1017 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CAGTTAAAGTAGAGGAGGTGA 0.458000 29 34 0 0 0.007291 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104999228 104999228 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:104999228A>T ENST00000372582.1 + 10 2006 c.1250A>T c.(1249-1251)gAc>gTc p.D417V IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D417V|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.D22V NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 417 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GATACTTTAGACTGTGACAAT 0.383000 50 23 0 0 0.003610 0 0 GPR149 344758 broad.mit.edu 37 3 154147351 154147351 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:154147351C>T ENST00000389740.2 - 1 153 c.54G>A c.(52-54)gaG>gaA p.E18E NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 18 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) AATTATGATTCTCTTTCCACA 0.373000 19 62 0 0 0.001523 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73302721 73302721 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:73302721G>A ENST00000258098.6 - 5 2130 c.1890C>T c.(1888-1890)atC>atT p.I630I RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 630 FIP-RBD. protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GCAGCCGGTCGATGTAGCTCT 0.652000 20 29 0 0 0.001523 0 0 ERC2 26059 broad.mit.edu 37 3 55922538 55922538 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:55922538C>T ENST00000288221.6 - 14 2698 c.2443G>A c.(2443-2445)Gaa>Aaa p.E815K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 815 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GCATCCAGTTCCTGTCTGGTC 0.512000 79 144 0 0 0.003610 0 0 GABRP 2568 broad.mit.edu 37 5 170222365 170222365 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:170222365G>A ENST00000518525.1 + 6 858 c.394G>A c.(394-396)Gaa>Aaa p.E132K GABRP_ENST00000519598.1_Missense_Mutation_p.E132K|GABRP_ENST00000519385.1_Missense_Mutation_p.E132K|GABRP_ENST00000265294.4_Missense_Mutation_p.E132K O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 132 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTCCTCCATGAAGTCACTGT 0.562000 37 57 0 0 0.006230 0 0 TNNI3K 51086 broad.mit.edu 37 1 74905279 74905279 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:74905279G>A ENST00000370891.2 + 22 2303 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCACTGGCGAAATTCCATT 0.438000 31 42 0 0 0.001786 0 0 SF3B2 10992 broad.mit.edu 37 11 65819988 65819988 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:65819988G>A ENST00000528302.1 + 1 187 c.133_splice c.e1+1 p.G45_splice SF3B2_ENST00000322535.6_Splice_Site_p.G45_splice Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 45 SAP. interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TCCGATCCAGGGTGAGGAACA 0.677000 21 22 0 0 0.008871 0 0 MYO15A 51168 broad.mit.edu 37 17 18059562 18059562 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:18059562A>G ENST00000205890.5 + 48 8851 c.8513A>G c.(8512-8514)aAc>aGc p.N2838S MYO15A_ENST00000585180.1_Silent_p.Q100Q|MYO15A_ENST00000418233.3_Missense_Mutation_p.N102S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2838 Tail. 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) CTGGAGTTCAACCTGGCCAGT 0.562000 27 15 0 0 0.001786 0 0 FOXR2 139628 broad.mit.edu 37 X 55650332 55650332 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:55650332G>A ENST00000339140.3 + 1 500 c.188G>A c.(187-189)aGg>aAg p.R63K NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 63 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CCTCAGAAGAGGAGACCCAGT 0.537000 18 20 0 0 0.001523 0 0 CIITA 4261 broad.mit.edu 37 16 10995407 10995407 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:10995407G>A ENST00000324288.8 + 6 606 c.473G>A c.(472-474)tGg>tAg p.W158* CIITA_ENST00000381835.5_Nonsense_Mutation_p.W158*|CIITA_ENST00000537380.1_3'UTR NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 158 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CTGAAGCACTGGAAGCCAGGT 0.607000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 10 17 0 0 0.000978 0 0 PTPRT 11122 broad.mit.edu 37 20 40747109 40747109 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:40747109C>T ENST00000373198.3 - 22 3217 c.2982G>A c.(2980-2982)tgG>tgA p.W994* PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W981*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W971*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W975*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W972* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 972 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) AGATCATTCTCCAAAAGTCCT 0.542000 18 74 0 0 0.001523 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597569 136597569 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:136597569C>T ENST00000531224.1 - 5 1346 c.1094G>A c.(1093-1095)gGa>gAa p.G365E BCLAF1_ENST00000527759.1_Missense_Mutation_p.G363E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G363E|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G365E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G363E NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 365 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) TTTCTCTGATCCTTTCTCTTT 0.413000 16 245 0 0 0.006122 0 0 C12orf50 160419 broad.mit.edu 37 12 88391931 88391931 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:88391931G>A ENST00000298699.2 - 4 350 c.170C>T c.(169-171)cCa>cTa p.P57L C12orf50_ENST00000550553.1_Missense_Mutation_p.P57L NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 57 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GGACTGGAGTGGAATTCCTTC 0.368000 8 14 0 0 0.008291 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770483 31770483 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:31770483C>A ENST00000240587.4 - 2 543 c.216G>T c.(214-216)atG>atT p.M72I NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 72 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) ACTCGCTGTCCATTTCATGGC 0.597000 13 19 2.32078e-09 2.57873e-09 0.003163 1 0 TTN 7273 broad.mit.edu 37 2 179606297 179606297 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179606297C>T ENST00000589042.1 - 48 11887 c.11663G>A c.(11662-11664)gGa>gAa p.G3888E TTN_ENST00000359218.5_Missense_Mutation_p.G3650E|TTN_ENST00000342175.6_Missense_Mutation_p.G3717E|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G3571E|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G3525E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3571 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) TGTATACTCTCCCTCATCCTC 0.383000 40 45 0 0 0.005524 0 0 PROX2 283571 broad.mit.edu 37 14 75330247 75330247 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:75330247C>T ENST00000556084.2 - 1 290 c.291G>A c.(289-291)aaG>aaA p.K97K PROX2_ENST00000445876.1_Silent_p.K97K|PROX2_ENST00000556489.2_Silent_p.K97K NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 97 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) CTCGGGCCTTCTTTGGGCAGC 0.642000 8 17 0 0 0.003080 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166839 96166839 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:96166839G>A ENST00000315367.3 + 2 808 c.567G>A c.(565-567)aaG>aaA p.K189K PLEKHF2_ENST00000519516.1_Silent_p.K189K NM_024613.3 NP_078889.1 Q9H8W4 PKHF2_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 2 189 transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) GCTCTGAAAAGAGATTTCTTC 0.498000 325 488 0 0 0.003610 0 0 GJA10 84694 broad.mit.edu 37 6 90605545 90605545 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:90605545G>A ENST00000369352.1 + 1 1358 c.1358G>A c.(1357-1359)cGg>cAg p.R453Q NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 453 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TCTGGTTCTCGGAATAGCTCC 0.522000 47 84 0 0 0.003610 0 0 ZMYND8 23613 broad.mit.edu 37 20 45905204 45905204 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:45905204G>A ENST00000311275.7 - 11 1527 c.1274C>T c.(1273-1275)tCc>tTc p.S425F ZMYND8_ENST00000471951.2_Missense_Mutation_p.S445F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S445F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S445F|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S425F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S420F|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S420F|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S425F|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S452F|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S362F|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S420F|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S425F|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S420F Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 425 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) ATCCGACAAGGAAATCCGGCG 0.592000 13 70 0 0 0.003163 0 0 OR51I1 390063 broad.mit.edu 37 11 5462353 5462353 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5462353G>A ENST00000380211.1 - 1 391 c.392C>T c.(391-393)cCa>cTa p.P131L AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 131 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) ATAGCGTAATGGATAACAAAT 0.483000 27 50 0 0 0.005443 0 0 CEP250 11190 broad.mit.edu 37 20 34050232 34050232 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:34050232C>T ENST00000397527.1 + 4 760 c.40C>T c.(40-42)Cag>Tag p.Q14* CEP250_ENST00000397524.1_Nonsense_Mutation_p.Q14*|CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q14* NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 14 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CATGAAGCCCCAGTCACTGCA 0.592000 3 9 0 0 0.000248 0 0 COL4A4 1286 broad.mit.edu 37 2 227886775 227886775 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:227886775G>A ENST00000396625.3 - 44 4412 c.4205C>T c.(4204-4206)cCc>cTc p.P1402L COL4A4_ENST00000329662.7_Missense_Mutation_p.P1399L NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1402 Triple-helical region. P -> S. 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) TGGTCCTGAGGGGCCTCTCAT 0.488000 69 97 0 0 0.003610 0 0 GRID2 2895 broad.mit.edu 37 4 94344033 94344033 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:94344033G>A ENST00000282020.4 + 10 1717 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K GRID2_ENST00000510992.1_Missense_Mutation_p.E392K NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 487 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.E487Q(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTTTAACTACGAAATTTACGT 0.418000 26 35 0 0 0.003330 0 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847262 32847262 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:32847262G>A ENST00000420261.1 - 0 363 TCTTGTTCCTGAACCTGATAC 0.443000 7 16 0 0 0.001984 0 0 C10orf54 64115 broad.mit.edu 37 10 73533131 73533131 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:73533131G>C ENST00000394957.3 - 1 124 c.66C>G c.(64-66)ttC>ttG p.F22L CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 22 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 ACGCAGCCAGGAAGAGAGCGA 0.677000 4 6 0 0 0.000602 0 0 CATSPER3 347732 broad.mit.edu 37 5 134347235 134347235 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:134347235C>T ENST00000282611.6 + 8 1205 c.1119C>T c.(1117-1119)atC>atT p.I373I NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 373 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTATGAGATCGTGCATGTGC 0.557000 7 17 0 0 0.001984 0 0 LPHN2 23266 broad.mit.edu 37 1 82456395 82456395 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:82456395C>T ENST00000370728.1 + 25 4591 c.3946C>T c.(3946-3948)Ctg>Ttg p.L1316L LPHN2_ENST00000370725.1_Silent_p.L1331L|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.L1318L|LPHN2_ENST00000319517.6_Silent_p.L1260L|LPHN2_ENST00000370723.1_Silent_p.L1318L|LPHN2_ENST00000370730.1_Silent_p.L1273L|LPHN2_ENST00000335786.5_Silent_p.L1273L|LPHN2_ENST00000359929.3_Silent_p.L1260L|LPHN2_ENST00000370721.1_Silent_p.L1241L|LPHN2_ENST00000370727.1_Silent_p.L1288L|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Silent_p.L1288L|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.L1331L O95490 LPHN2_HUMAN latrophilin 2 1316 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAACCCAGGGCTGGAGCTCCA 0.512000 29 88 0 0 0.003271 0 0 WASF3 10810 broad.mit.edu 37 13 27255355 27255355 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:27255355G>A ENST00000361042.4 + 8 1097 c.872G>A c.(871-873)aGg>aAg p.R291K WASF3_ENST00000335327.5_Missense_Mutation_p.R294K Q9UPY6 WASF3_HUMAN WAS protein family, member 3 294 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GCCTCGGCGAGGCACATGGCC 0.692000 31 49 0 0 0.003271 0 0 C9orf173 441476 broad.mit.edu 37 9 140146525 140146525 + Missense_Mutation SNP C C T rs143046453 by1000genomes TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:140146525C>T ENST00000388931.3 + 3 367 c.341C>T c.(340-342)cCg>cTg p.P114L C9orf173_ENST00000412566.1_Missense_Mutation_p.P114L NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1 NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1 Q8N7X2 CI173_HUMAN chromosome 9 open reading frame 173 114 kidney(1)|large_intestine(1)|lung(5)|pancreas(1) 8 GTGCCGAGCCCGTCCGTACGA 0.672000 6 7 0 0 0.001984 0 0 INHBA 3624 broad.mit.edu 37 7 41739583 41739583 + Splice_Site SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:41739583A>G ENST00000242208.4 - 2 635 c.e2+1 INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Splice_Site|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GCCAGCACCAACCTGACTCGG 0.522000 TSP Lung(11;0.080) 54 93 0 0 0.003610 0 0 MYT1L 23040 broad.mit.edu 37 2 1891327 1891327 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:1891327C>T ENST00000399161.2 - 17 3322 c.2575G>A c.(2575-2577)Gag>Aag p.E859K MYT1L_ENST00000428368.2_Missense_Mutation_p.E857K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 859 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ATGGTCACCTCCCCGGGATAC 0.498000 21 88 0 0 0.001523 0 0 CASP2 835 broad.mit.edu 37 7 142991774 142991774 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:142991774C>T ENST00000310447.5 + 6 896 c.655C>T c.(655-657)Cgc>Tgc p.R219C CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 219 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) ACTGGAATTTCGCTCTGGAGG 0.527000 47 62 0 0 0.003610 0 0 LILRB1 10859 broad.mit.edu 37 19 55147037 55147037 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55147037G>A ENST00000396331.1 + 14 1984 c.1627G>A c.(1627-1629)Gat>Aat p.D543N LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.D543N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D593N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D527N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D544N|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.D543N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D544N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D543N|LILRB1_ENST00000396317.1_Missense_Mutation_p.D527N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D544N NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 543 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) ACAGCCTGAGGATGGGGTGGA 0.612000 HNSCC(37;0.09) 59 77 0 0 0.003610 0 0 PLCH1 23007 broad.mit.edu 37 3 155200219 155200219 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:155200219T>C ENST00000460012.1 - 23 3863 c.3506A>G c.(3505-3507)aAc>aGc p.N1169S PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1169S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N1207S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1169S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1207 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) AGCCTGATTGTTGGTCTCATC 0.453000 29 36 0 0 0.002836 0 0 LTF 4057 broad.mit.edu 37 3 46497331 46497331 + Missense_Mutation SNP G G A rs146006710 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:46497331G>A ENST00000231751.4 - 4 749 c.454C>T c.(454-456)Cgt>Tgt p.R152C LTF_ENST00000426532.2_Missense_Mutation_p.R108C|LTF_ENST00000417439.1_Missense_Mutation_p.R152C NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 152 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) AAGAATGGACGAAGTGTCCCT 0.572000 25 22 0 0 0.002780 0 0 CCDC60 160777 broad.mit.edu 37 12 119968818 119968818 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:119968818G>A ENST00000327554.2 + 13 1966 c.1501G>A c.(1501-1503)Gat>Aat p.D501N RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 501 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGTGCTGCAGGATCTGAGGAT 0.527000 41 59 0 0 0.003214 0 0 KMO 8564 broad.mit.edu 37 1 241714312 241714312 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:241714312A>C ENST00000366559.4 + 4 591 c.280A>C c.(280-282)Aag>Cag p.K94Q KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.K94Q|KMO_ENST00000366557.4_Missense_Mutation_p.K94Q NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 94 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) TTCAGGAAAAAAGTCTGCAAT 0.403000 78 116 0 0 0.003610 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635679 141635679 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:141635679C>T ENST00000546910.1 - 5 476 c.280G>A c.(280-282)Gaa>Aaa p.E94K CLEC5A_ENST00000438351.1_Missense_Mutation_p.E71K|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E71K|CLEC5A_ENST00000470595.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 94 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TCCCTGCTTTCATTCCAAGAT 0.428000 33 62 0 0 0.002836 0 0 USB1 79650 broad.mit.edu 37 16 58036463 58036463 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:58036463C>T ENST00000219281.3 + 2 290 c.179C>T c.(178-180)cCt>cTt p.P60L USB1_ENST00000423271.3_Missense_Mutation_p.P60L|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Missense_Mutation_p.P60L|USB1_ENST00000561743.1_Missense_Mutation_p.P9L|USB1_ENST00000563149.1_Missense_Mutation_p.P60L NM_024598.3 NP_078874.2 U6 snRNA biogenesis 1 GAGGAGGGGCCTGAAGATGAC 0.572000 23 67 0 0 0.002299 0 0 LILRB4 11006 broad.mit.edu 37 19 55176615 55176615 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55176615G>A ENST00000391736.1 + 8 1056 c.741G>A c.(739-741)ggG>ggA p.G247G LILRB4_ENST00000270452.2_Silent_p.G247G|LILRB4_ENST00000391733.3_Silent_p.G247G|LILRB4_ENST00000430952.2_Silent_p.G247G|LILRB4_ENST00000391734.3_Silent_p.G247G NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 247 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGCCTACAGGGTCAGTCCCCC 0.647000 12 24 0 0 0.002450 0 0 CDH26 60437 broad.mit.edu 37 20 58563960 58563960 + Splice_Site SNP C C T rs36098341 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:58563960C>T ENST00000348616.4 + 9 1325 c.1023_splice c.e9-1 p.P342_splice CDH26_ENST00000244047.5_Splice_Site_p.P342_splice NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 342 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GGGTTCCAGCCTTTGGATTAT 0.547000 18 34 0 0 0.006122 0 0 LAMA3 3909 broad.mit.edu 37 18 21357521 21357521 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:21357521G>A ENST00000313654.9 + 11 1647 c.1405_splice c.e11-1 p.R469_splice LAMA3_ENST00000399516.3_Splice_Site_p.R469_splice NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 469 Domain V.|Laminin EGF-like 3. 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) ATTTTTACAGGAATTCCCATT 0.343000 4 51 0 0 0.000602 0 0 DNAH1 25981 broad.mit.edu 37 3 52407021 52407021 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:52407021T>C ENST00000420323.2 + 44 7198 c.6937T>C c.(6937-6939)Ttg>Ctg p.L2313L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2313 AAA 3 (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) CATCGAGCTGTTGCGCCAGTG 0.612000 22 23 0 0 0.002299 0 0 PANK3 79646 broad.mit.edu 37 5 167990990 167990990 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:167990990G>A ENST00000239231.6 - 4 1032 c.716C>T c.(715-717)tCc>tTc p.S239F PANK3_ENST00000520504.1_Intron NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 239 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) ATCACCTTTGGATGCCATTTC 0.423000 40 156 0 0 0.002222 0 0 CDH12 1010 broad.mit.edu 37 5 21854885 21854885 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:21854885G>A ENST00000382254.1 - 7 1627 c.541C>T c.(541-543)Cag>Tag p.Q181* CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q181*|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 181 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GCCTTGACCTGGAGTACATAT 0.418000 HNSCC(59;0.17) 19 28 0 0 0.007413 0 0 NOMO1 23420 broad.mit.edu 37 16 14970343 14970343 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:14970343C>T ENST00000287667.7 + 21 2655 c.2484C>T c.(2482-2484)atC>atT p.I828I NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 828 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CACCGCTGATCACAGTCTTTA 0.542000 52 53 0 0 0.003610 0 0 HMCN1 83872 broad.mit.edu 37 1 185964216 185964216 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:185964216C>T ENST00000271588.4 + 24 4004 c.3775C>T c.(3775-3777)Caa>Taa p.Q1259* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q1259* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1259 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 GCTACATGTCCAAGGTGATTC 0.408000 20 42 0 0 0.001882 0 0 OR4N5 390437 broad.mit.edu 37 14 20612138 20612138 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:20612138T>C ENST00000333629.1 + 1 244 c.244T>C c.(244-246)Ttg>Ctg p.L82L NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 82 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) TCCCAGGATGTTGGTGGACTT 0.488000 68 133 0 0 0.003610 0 0 COL4A2 1284 broad.mit.edu 37 13 111147733 111147733 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:111147733G>A ENST00000360467.5 + 40 3985 c.3679G>A c.(3679-3681)Gaa>Aaa p.E1227K NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1227 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) CCCTCCTGGGGAAAGAGGTGA 0.567000 31 84 0 0 0.008361 0 0 FAM83B 222584 broad.mit.edu 37 6 54805506 54805506 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:54805506G>A ENST00000306858.7 + 5 1853 c.1737G>A c.(1735-1737)gaG>gaA p.E579E NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 579 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CACCTAAAGAGGTCCCAGACA 0.453000 21 38 0 0 0.002299 0 0 CALD1 800 broad.mit.edu 37 7 134632263 134632263 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:134632263C>T ENST00000361388.2 + 8 1316 c.850C>T c.(850-852)Cct>Tct p.P284S CALD1_ENST00000543443.1_Missense_Mutation_p.P263S|CALD1_ENST00000361675.2_Missense_Mutation_p.P513S|CALD1_ENST00000393118.2_Missense_Mutation_p.P278S|CALD1_ENST00000417172.1_Missense_Mutation_p.P258S|CALD1_ENST00000361901.2_Missense_Mutation_p.P258S|CALD1_ENST00000424922.1_Missense_Mutation_p.P252S|CALD1_ENST00000422748.1_Missense_Mutation_p.P284S|CALD1_ENST00000495522.1_Missense_Mutation_p.P278S NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 513 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 CCACAGCCGCCCTGGAGGGAG 0.657000 5 5 0 0 0.001168 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973843 29973843 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:29973843C>T ENST00000378993.1 + 11 2670 c.1997C>T c.(1996-1998)tCg>tTg p.S666L IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S666L NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 666 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 CAGACAAAATCGAGCAGGGAG 0.532000 14 3 0 0 0.002450 0 0 DDX26B 203522 broad.mit.edu 37 X 134711293 134711293 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:134711293C>T ENST00000370752.4 + 14 2283 c.1949C>T c.(1948-1950)cCc>cTc p.P650L DDX26B_ENST00000493637.1_Intron NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 650 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) AAGGGACCACCCTCAGCCTCG 0.483000 50 11 0 0 0.003610 0 0 DUSP22 56940 broad.mit.edu 37 6 345884 345884 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:345884C>T ENST00000419235.2 + 5 297 c.219C>T c.(217-219)ttC>ttT p.F73F DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.F73F|DUSP22_ENST00000605863.1_5'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 73 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GTATTAAATTCATTCACGAGT 0.418000 13 61 0 0 0.002450 0 0 LOC101243545 101243545 broad.mit.edu 37 3 161146971 161146971 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:161146971G>A ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 GGAGCCAGTCGAACATATGCC 0.418000 37 47 0 0 0.003610 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090556 115090556 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:115090556C>T ENST00000361283.1 + 3 1548 c.1239C>T c.(1237-1239)ccC>ccT p.P413P NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 413 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AGGCAGTTCCCCCAGTGTCTC 0.577000 15 95 0 0 0.003163 0 0 ARMC4 55130 broad.mit.edu 37 10 28233286 28233286 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28233286G>A ENST00000305242.5 - 12 1700 c.1608C>T c.(1606-1608)ggC>ggT p.G536G ARMC4_ENST00000545014.1_Silent_p.G61G|ARMC4_ENST00000537576.1_Silent_p.G228G NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 536 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 TAATTGGTAAGCCCCCAAGGT 0.383000 12 40 0 0 0.001855 0 0 CPA6 57094 broad.mit.edu 37 8 68346349 68346349 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:68346349G>A ENST00000297770.4 - 9 1180 c.965C>T c.(964-966)tCc>tTc p.S322F CPA6_ENST00000297769.4_Intron NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 322 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TGCATGAAAGGAGAGATAAGC 0.413000 32 47 0 0 0.002445 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156928584 156928584 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:156928584G>A ENST00000368194.3 - 17 2491 c.1452C>T c.(1450-1452)ctC>ctT p.L484L ARHGEF11_ENST00000361409.2_Silent_p.L444L NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 444 RGSL. 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 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) GGCGCTCTCGGAGAGGGTCCC 0.542000 18 35 0 0 0.004990 0 0 ZNF317 57693 broad.mit.edu 37 19 9270815 9270815 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9270815C>T ENST00000247956.6 + 7 799 c.494C>T c.(493-495)tCc>tTc p.S165F ZNF317_ENST00000360385.3_Missense_Mutation_p.S133F NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GGAGAGAAGTCCACTGAATAC 0.517000 19 43 0 0 0.001882 0 0 COL4A4 1286 broad.mit.edu 37 2 227945175 227945175 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:227945175C>T ENST00000396625.3 - 24 1994 c.1787G>A c.(1786-1788)gGg>gAg p.G596E COL4A4_ENST00000329662.7_Missense_Mutation_p.G596E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 596 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) TCCTGGATCCCCTTTTTCTCC 0.463000 54 76 0 0 0.003610 0 0 CACNA1F 778 broad.mit.edu 37 X 49070637 49070637 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:49070637G>A ENST00000376265.2 - 30 3784 c.3723C>T c.(3721-3723)atC>atT p.I1241I CACNA1F_ENST00000376251.1_Silent_p.I1176I|CACNA1F_ENST00000323022.5_Silent_p.I1230I NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1241 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) TGAAGGCGATGATTTTGAGCA 0.542000 34 11 0 0 0.003755 0 0 CDKL1 8814 broad.mit.edu 37 14 50862430 50862430 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:50862430G>A ENST00000216378.2 - 2 804 c.160C>T c.(160-162)Cga>Tga p.R54* CDKL1_ENST00000395834.1_Nonsense_Mutation_p.R54*|CDKL1_ENST00000356146.1_5'UTR Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 (CDC2-related kinase) 53 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) TTGAGCATTCGGATTTCCCGA 0.438000 40 55 0 0 0.008740 0 0 FCRL1 115350 broad.mit.edu 37 1 157766900 157766900 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:157766900C>T ENST00000358292.3 - 9 1133 c.1082G>A c.(1081-1083)tGg>tAg p.W361* FCRL1_ENST00000491942.1_Missense_Mutation_p.M402I|FCRL1_ENST00000368176.3_Missense_Mutation_p.M403I|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 0 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTTGTCCTCCATATGTGTCC 0.393000 15 50 0 0 0.007413 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805983 20805983 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:20805983C>T ENST00000577537.1 + 0 1167 RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA TAGAACATCCCGAACCCGTGA 0.617000 6 3 0 0 0.001168 0 0 TFEC 22797 broad.mit.edu 37 7 115580967 115580967 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:115580967G>A ENST00000265440.7 - 8 862 c.682C>T c.(682-684)Cgt>Tgt p.R228C TFEC_ENST00000320239.7_Missense_Mutation_p.R199C|TFEC_ENST00000457268.1_Missense_Mutation_p.R161C|TFEC_ENST00000393485.1_3'UTR NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 228 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) CCATGAGTACGAGCCTGAATT 0.398000 26 67 0 0 0.006320 0 0 SCN5A 6331 broad.mit.edu 37 3 38618268 38618268 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:38618268G>A ENST00000413689.1 - 19 3588 c.3395C>T c.(3394-3396)cCa>cTa p.P1132L SCN5A_ENST00000333535.4_Missense_Mutation_p.P1132L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1132L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1131L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1078L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1078L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1078L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1131L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1132L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1131L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1132 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACTGTCCTCTGGGGTCTATGG 0.617000 8 12 0 0 0.000978 0 0 DLGAP2 9228 broad.mit.edu 37 8 1513858 1513858 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:1513858G>A ENST00000421627.2 + 3 1134 c.1000G>A c.(1000-1002)Gat>Aat p.D334N RP11-666I19.2_ENST00000518063.1_RNA NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 413 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGTACCTCAGGATGAGTGGGG 0.512000 10 4 0 0 0.000978 0 0 CELSR3 1951 broad.mit.edu 37 3 48677320 48677320 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:48677320C>T ENST00000544264.1 - 35 9993 c.9713G>A c.(9712-9714)gGc>gAc p.G3238D CELSR3_ENST00000164024.4_Missense_Mutation_p.G3233D Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3233 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATGGCTGGGGCCACTGACCGA 0.612000 45 91 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923318 9923318 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:9923318C>T ENST00000396573.2 - 10 2278 c.1969G>A c.(1969-1971)Gaa>Aaa p.E657K GRIN2A_ENST00000330684.3_Missense_Mutation_p.E657K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E657K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E657K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E500K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E657K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 657 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) TCCACAAATTCCTCTTGGATC 0.502000 10 44 0 0 0.006214 0 0 DNAH11 8701 broad.mit.edu 37 7 21847502 21847502 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:21847502G>A ENST00000328843.6 + 64 10219 c.10186_splice c.e64-1 p.K3396_splice DNAH11_ENST00000409508.3_Splice_Site_p.K3389_splice Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3396 Stalk (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 TTCAGTCAGAGAAGATTCGCT 0.443000 Kartagener syndrome 9 24 0 0 0.008291 0 0 ZFPM2 23414 broad.mit.edu 37 8 106646513 106646513 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:106646513C>T ENST00000407775.2 + 5 710 c.460C>T c.(460-462)Ccc>Tcc p.P154S ZFPM2_ENST00000517361.1_Missense_Mutation_p.P22S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P22S NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 154 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) GACTGCTGGTCCCAAGTGGTT 0.423000 5 20 0 0 0.001168 0 0 AGAP2-AS1 100130776 broad.mit.edu 37 12 58121399 58121399 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:58121399G>A ENST00000542466.2 + 2 760 c.624G>A c.(622-624)ccG>ccA p.P208P AGAP2_ENST00000257897.3_Intron|AGAP2_ENST00000547588.1_Intron GCTCCCAGCCGGGCAGCACAG 0.657000 3 9 0 0 0.004672 0 0 PARD3 56288 broad.mit.edu 37 10 34649112 34649112 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:34649112C>T ENST00000374789.3 - 13 2108 c.1783G>A c.(1783-1785)Gat>Aat p.D595N PARD3_ENST00000374773.1_Missense_Mutation_p.D595N|PARD3_ENST00000544292.1_Missense_Mutation_p.D312N|PARD3_ENST00000545693.1_Missense_Mutation_p.D582N|PARD3_ENST00000545260.1_Missense_Mutation_p.D538N|PARD3_ENST00000374768.1_Missense_Mutation_p.D33N|PARD3_ENST00000346874.4_Missense_Mutation_p.D595N|PARD3_ENST00000374788.3_Missense_Mutation_p.D595N|PARD3_ENST00000374794.3_Missense_Mutation_p.D538N|PARD3_ENST00000350537.4_Missense_Mutation_p.D582N|PARD3_ENST00000340077.5_Missense_Mutation_p.D595N|PARD3_ENST00000374790.3_Missense_Mutation_p.D538N|PARD3_ENST00000374776.1_Missense_Mutation_p.D582N NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 595 PDZ 3. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GATCCTGAATCATTAAGTGGG 0.428000 19 57 0 0 0.008871 0 0 NRXN3 9369 broad.mit.edu 37 14 79181112 79181112 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:79181112G>A ENST00000554719.1 + 5 1046 c.555G>A c.(553-555)gtG>gtA p.V185V NRXN3_ENST00000335750.5_Silent_p.V185V NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 189 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) CTATATCAGTGAACAGCAGGC 0.572000 29 101 0 0 0.003271 0 0 VAV3 10451 broad.mit.edu 37 1 108145775 108145775 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:108145775C>T ENST00000370056.4 - 23 2300 c.2026G>A c.(2026-2028)Gca>Aca p.A676T VAV3_ENST00000415432.2_Missense_Mutation_p.A116T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.A676T|VAV3_ENST00000544443.1_Missense_Mutation_p.A80T NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 676 SH2. 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) CTTTCCATTGCTCCAGCATAC 0.358000 39 47 0 0 0.008740 0 0 ATP8B1 5205 broad.mit.edu 37 18 55319961 55319961 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:55319961C>T ENST00000536015.1 - 25 3135 c.3015_splice c.e25-1 p.D1006_splice RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Splice_Site_p.D1006_splice NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1006 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TCACTCACATCCTTAAGGAGA 0.363000 32 30 0 0 0.003755 0 0 NACAP1 83955 broad.mit.edu 37 8 102381730 102381730 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:102381730G>A ENST00000419462.1 + 0 1142 NR_002182.1 TCCGAGCCCTGAAGAACAGTA 0.403000 8 31 0 0 0.003080 0 0 ESPNP 284729 broad.mit.edu 37 1 17023276 17023276 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:17023276G>A ENST00000492551.1 - 0 1671 NR_026567.1 CCGCCTACCTGGAAGGCCGGC 0.677000 5 61 0 0 0.001168 0 0 DNAJC10 54431 broad.mit.edu 37 2 183623942 183623942 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:183623942C>T ENST00000264065.6 + 21 2468 c.2053C>T c.(2053-2055)Cta>Tta p.L685L NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 685 Thioredoxin 4. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGAAAAAGTTCTACAAGGGAA 0.373000 10 29 0 0 0.006214 0 0 PDZRN4 29951 broad.mit.edu 37 12 41957359 41957359 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:41957359G>A ENST00000298919.7 + 8 983 c.595G>A c.(595-597)Gaa>Aaa p.E199K PDZRN4_ENST00000402685.2_Missense_Mutation_p.E459K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E201K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 459 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) GATAAATGGGGAAGATGTCCA 0.418000 23 46 0 0 0.004656 0 0 KDR 3791 broad.mit.edu 37 4 55968569 55968569 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:55968569G>A ENST00000263923.4 - 14 2389 c.2094C>T c.(2092-2094)atC>atT p.I698I NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 698 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TAAACCACATGATCTGTGGAG 0.458000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 37 70 0 0 0.006230 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766905 27766905 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:27766905C>T ENST00000451261.2 + 5 2292 c.1893C>T c.(1891-1893)tcC>tcT p.S631S 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 GCATGCCATCCTGAAGGCCTC 0.433000 14 2 0 0 0.006122 0 0 PRSS55 203074 broad.mit.edu 37 8 10387074 10387074 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:10387074G>A ENST00000328655.3 + 2 252 c.212G>A c.(211-213)gGg>gAg p.G71E PRSS55_ENST00000522210.1_Missense_Mutation_p.G71E|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 71 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 ATCACAGGGGGGATGGAGGCG 0.502000 107 149 0 0 0.003610 0 0 FBXL16 146330 broad.mit.edu 37 16 746788 746788 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:746788C>T ENST00000397621.1 - 2 949 c.618G>A c.(616-618)acG>acA p.T206T FBXL16_ENST00000324361.5_Silent_p.T206T NM_153350.3 NP_699181.2 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 206 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) GGCCTGCGTCCGTGATGGTGG 0.632000 11 22 0 0 0.000978 0 0 ZNF592 9640 broad.mit.edu 37 15 85342003 85342003 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:85342003C>T ENST00000299927.3 + 5 2943 c.2921C>T c.(2920-2922)gCc>gTc p.A974V ZNF592_ENST00000560079.2_Missense_Mutation_p.A974V Q92610 ZN592_HUMAN zinc finger protein 592 974 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGGTGGAAGCCAGGCCGCGG 0.647000 8 10 0 0 0.003080 0 0 CREB3L1 90993 broad.mit.edu 37 11 46341910 46341910 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:46341910G>A ENST00000529193.1 + 11 1805 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K CREB3L1_ENST00000288400.3_Missense_Mutation_p.E452K Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 452 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) AGATGGCTGGGAAATCAACCC 0.652000 T FUS myxofibrosarcoma 4 12 0 0 0.001168 0 0 PLSCR2 57047 broad.mit.edu 37 3 146167009 146167009 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:146167009C>T ENST00000497985.1 - 8 1287 c.848G>A c.(847-849)gGt>gAt p.G283D PLSCR2_ENST00000336685.2_Missense_Mutation_p.G210D NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 210 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 GAAACAGGCACCAATCATCAC 0.373000 46 37 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9027222 9027222 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9027222G>A ENST00000397910.4 - 13 36867 c.36664C>T c.(36664-36666)Ccc>Tcc p.P12222S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12224 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 TTACTCGTGGGGCTGGGGCTG 0.478000 5 14 0 0 0.001168 0 0 PRTG 283659 broad.mit.edu 37 15 55972763 55972763 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:55972763G>A ENST00000389286.4 - 5 787 c.740C>T c.(739-741)tCt>tTt p.S247F RP11-420M1.2_ENST00000561155.1_RNA NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 247 Ig-like 3. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CTGATGAAGAGATGTTGTTAT 0.383000 51 84 0 0 0.003610 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308012 140308012 + Missense_Mutation SNP C C T rs137957181 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140308012C>T ENST00000253807.2 + 1 1535 c.1535C>T c.(1534-1536)tCc>tTc p.S512F PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S512F|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAAAACTTCCTTTGACTTT 0.493000 29 90 0 0 0.005443 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38682858 38682858 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38682858C>T ENST00000222345.6 + 17 5013 c.4504C>T c.(4504-4506)Cca>Tca p.P1502S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1502 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTCCGGTCACCACGGAAGAA 0.552000 22 32 0 0 0.002299 0 0 TENM2 57451 broad.mit.edu 37 5 167674649 167674649 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:167674649G>A ENST00000519204.1 + 26 6460 c.6342G>A c.(6340-6342)ctG>ctA p.L2114L TENM2_ENST00000403607.2_Silent_p.L2059L|TENM2_ENST00000545108.1_Silent_p.L2234L|TENM2_ENST00000518659.1_Silent_p.L2235L|TENM2_ENST00000520394.1_Silent_p.L1996L teneurin transmembrane protein 2 TCCACTTACTGAACCCAGGCA 0.572000 13 15 0 0 0.001855 0 0 ADCY6 112 broad.mit.edu 37 12 49166193 49166193 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:49166193C>T ENST00000307885.4 - 17 3366 c.2672G>A c.(2671-2673)aGg>aAg p.R891K ADCY6_ENST00000357869.3_Missense_Mutation_p.R838K|ADCY6_ENST00000550422.1_Missense_Mutation_p.R838K NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 891 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 ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GAGGGCCACCCTCCCTGCAGC 0.557000 19 32 0 0 0.001882 0 0 ACPL2 92370 broad.mit.edu 37 3 141006222 141006222 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:141006222C>T ENST00000508812.1 + 4 2312 c.405C>T c.(403-405)ttC>ttT p.F135F ACPL2_ENST00000286353.4_Silent_p.F144F|ACPL2_ENST00000393010.2_Silent_p.F144F|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Silent_p.F127F|ACPL2_ENST00000393007.1_Silent_p.F128F|ACPL2_ENST00000502783.1_Silent_p.F106F Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 144 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GAGCCTCTTTCGAAAGCCCCT 0.493000 5 118 0 0 0.001168 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454684 84454684 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:84454684C>T ENST00000377084.2 - 1 1844 c.959G>A c.(958-960)aGa>aAa p.R320K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 320 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) TGCTGTGGGTCTGATTTTGAT 0.557000 25 56 0 0 0.003330 0 0 OR5M11 219487 broad.mit.edu 37 11 56310287 56310287 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56310287G>A ENST00000528616.2 - 1 470 c.447C>T c.(445-447)gtC>gtT p.V149V NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 AGAAGCCATAGACATAGGGAA 0.527000 7 13 0 0 0.001984 0 0 ZNF70 7621 broad.mit.edu 37 22 24087234 24087234 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:24087234C>T ENST00000341976.3 - 2 554 c.94G>A c.(94-96)Ggg>Agg p.G32R NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 32 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 AAAGGGTCCCCCAGGTCCTCC 0.488000 46 69 0 0 0.003610 0 0 RGS6 9628 broad.mit.edu 37 14 72976970 72976970 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:72976970C>T ENST00000553530.1 + 14 1281 c.1074C>T c.(1072-1074)ttC>ttT p.F358F RGS6_ENST00000402788.2_Silent_p.F358F|RGS6_ENST00000355512.6_Silent_p.F358F|RGS6_ENST00000404301.2_Silent_p.F358F|RGS6_ENST00000554782.1_Silent_p.F219F|RGS6_ENST00000343854.6_Silent_p.F321F|RGS6_ENST00000434263.2_Silent_p.F289F|RGS6_ENST00000406236.4_Silent_p.F358F|RGS6_ENST00000553525.1_Silent_p.F358F|RGS6_ENST00000407322.4_Silent_p.F358F|RGS6_ENST00000555571.1_Silent_p.F358F|RGS6_ENST00000556437.1_Silent_p.F358F 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 6 358 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(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) AGTCCGAATTCAGTTCAGAAA 0.468000 61 98 0 0 0.003610 0 0 CPA3 1359 broad.mit.edu 37 3 148596253 148596253 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:148596253G>A ENST00000296046.3 + 4 347 c.295G>A c.(295-297)Gag>Aag p.E99K RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 99 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) TCTACAAGAAGAGATTGAGAA 0.343000 25 29 0 0 0.008361 0 0 ALPI 248 broad.mit.edu 37 2 233320917 233320917 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:233320917G>A ENST00000295463.3 + 1 85 c.8G>A c.(7-9)gGg>gAg p.G3E NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 3 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GACATGCAGGGGCCCTGGGTG 0.652000 15 13 0 0 0.003163 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355115 33355115 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:33355115G>A ENST00000023064.4 - 4 556 c.365C>T c.(364-366)cCc>cTc p.P122L SLC7A9_ENST00000590341.1_Missense_Mutation_p.P122L|SLC7A9_ENST00000587772.1_Missense_Mutation_p.P122L NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 122 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GAAGGACGTGGGCTTAATGAC 0.577000 17 37 0 0 0.008871 0 0 CACNA1E 777 broad.mit.edu 37 1 181701970 181701970 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:181701970G>A ENST00000526775.1 + 19 2856 c.2691G>A c.(2689-2691)caG>caA p.Q897Q CACNA1E_ENST00000358338.5_Silent_p.Q848Q|CACNA1E_ENST00000367573.2_Silent_p.Q916Q|CACNA1E_ENST00000367567.4_Silent_p.Q523Q|CACNA1E_ENST00000357570.5_Silent_p.Q867Q|CACNA1E_ENST00000367570.1_Silent_p.Q916Q|CACNA1E_ENST00000360108.3_Silent_p.Q897Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 916 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 GGCACAGGCAGAGCCAACGGC 0.662000 25 77 0 0 0.006320 0 0 SLC6A17 388662 broad.mit.edu 37 1 110734611 110734611 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:110734611C>T ENST00000331565.4 + 7 1367 c.882C>T c.(880-882)gaC>gaT p.D294D NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 294 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) AGATGCTGGACCCCCAGGTGT 0.547000 36 20 0 0 0.007835 0 0 ZEB1 6935 broad.mit.edu 37 10 31809938 31809938 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:31809938C>T ENST00000446923.2 + 7 2018 c.1627C>T c.(1627-1629)Cct>Tct p.P543S ZEB1_ENST00000320985.10_Missense_Mutation_p.P559S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P539S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P560S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P492S NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 559 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TACTCAGCCTCCTCCACTCCC 0.463000 13 44 0 0 0.001368 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209936196 209936196 + Missense_Mutation SNP G G A rs150703631 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:209936196G>A ENST00000367024.1 + 5 1048 c.532G>A c.(532-534)Gat>Aat p.D178N TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D158N|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.D158N|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D158N|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D178N Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 178 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) AATTAAGAACGATGCCAGTCA 0.468000 53 72 0 0 0.003610 0 0 FOLR1 2348 broad.mit.edu 37 11 71903380 71903380 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:71903380G>A ENST00000393679.1 + 2 599 c.163G>A c.(163-165)Gag>Aag p.E55K FOLR1_ENST00000393681.2_Missense_Mutation_p.E55K|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.E55K|FOLR1_ENST00000393676.3_Missense_Mutation_p.E55K P15328 FOLR1_HUMAN folate receptor 1 (adult) 55 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 CAAGTTGCATGAGCAGGTGGG 0.562000 36 140 0 0 0.006230 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455424 187455424 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:187455424C>T ENST00000307161.5 - 2 673 c.472G>A c.(472-474)Gcc>Acc p.A158T RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 158 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GGCAGGACGGCCGCCAGCGTC 0.602000 22 45 0 0 0.002780 0 0 KRT222 125113 broad.mit.edu 37 17 38812820 38812820 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:38812820C>T ENST00000476049.1 - 6 763 c.722G>A c.(721-723)cGa>cAa p.R241Q KRT222_ENST00000394052.3_Missense_Mutation_p.R241Q Q8N1A0 KT222_HUMAN keratin 222 241 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 TTTCCTCAATCGAGGGTTATC 0.338000 27 48 0 0 0.007291 0 0 OR2G3 81469 broad.mit.edu 37 1 247769031 247769031 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:247769031C>T ENST00000320002.2 + 1 176 c.144C>T c.(142-144)atC>atT p.I48I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAATCATCATCTCATATCTGG 0.463000 83 153 0 0 0.003610 0 0 HDAC6 10013 broad.mit.edu 37 X 48674442 48674442 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:48674442C>T ENST00000334136.5 + 17 1654 c.1476C>T c.(1474-1476)caC>caT p.H492H HDAC6_ENST00000376619.2_Silent_p.H492H|HDAC6_ENST00000444343.2_Silent_p.H506H Q9UBN7 HDAC6_HUMAN histone deacetylase 6 492 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) TGATGAATCACTGCAACTTGT 0.567000 25 11 0 0 0.004656 0 0 ATP7B 540 broad.mit.edu 37 13 52539167 52539167 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:52539167G>A ENST00000242839.4 - 5 1866 c.1710C>T c.(1708-1710)atC>atT p.I570I ATP7B_ENST00000448424.2_Silent_p.I570I|ATP7B_ENST00000400366.3_Silent_p.I459I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.I570I|ATP7B_ENST00000344297.5_Silent_p.I570I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 570 HMA 6. 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) TCATCCCTGTGATCTGCAACA 0.537000 Wilson disease 15 46 0 0 0.002450 0 0 ASIC2 40 broad.mit.edu 37 17 31350947 31350947 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:31350947C>T ENST00000225823.2 - 6 2153 c.1281G>A c.(1279-1281)gtG>gtA p.V427V ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.V376V NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 376 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TGGGGATCTTCACCATGGAGA 0.478000 31 22 0 0 0.003755 0 0 TMC5 79838 broad.mit.edu 37 16 19505675 19505675 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:19505675G>A ENST00000396229.2 + 20 3667 c.2918G>A c.(2917-2919)aGg>aAg p.R973K TMC5_ENST00000381414.4_Missense_Mutation_p.R915K|TMC5_ENST00000564959.1_Missense_Mutation_p.R656K|TMC5_ENST00000561503.1_Missense_Mutation_p.R614K|TMC5_ENST00000542583.2_Missense_Mutation_p.R973K|TMC5_ENST00000541464.1_Missense_Mutation_p.R921K|TMC5_ENST00000219821.5_Missense_Mutation_p.R727K NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 973 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 GTTCTGGAAAGGAGAGAGGTG 0.498000 18 55 0 0 0.006122 0 0 GRIA1 2890 broad.mit.edu 37 5 153190743 153190743 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:153190743G>A ENST00000285900.5 + 16 3022 c.2679G>A c.(2677-2679)atG>atA p.M893I GRIA1_ENST00000448073.4_Missense_Mutation_p.M903I|GRIA1_ENST00000340592.5_Missense_Mutation_p.M893I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M813I|GRIA1_ENST00000521843.2_Missense_Mutation_p.M824I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M903I NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 893 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 p.M893I(1) 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) TTCCTTGCATGAGCCACAGTT 0.627000 9 33 0 0 0.006214 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27536472 27536472 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:27536472C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TTGTCAGGCCCCTGCTCTATG 0.552000 4 19 0 0 0.000248 0 0 AGAP7 653268 broad.mit.edu 37 10 51465404 51465404 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:51465404G>A ENST00000374095.5 - 7 1177 c.1052C>T c.(1051-1053)tCc>tTc p.S351F NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 351 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 GAAGCATATGGAGTCACCCAG 0.547000 42 165 0 0 0.002222 0 0 COL12A1 1303 broad.mit.edu 37 6 75833061 75833061 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:75833061G>A ENST00000322507.8 - 43 7240 c.6931C>T c.(6931-6933)Cca>Tca p.P2311S COL12A1_ENST00000483888.2_Missense_Mutation_p.P2311S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2311S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1147S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2311 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 CGGGCTGGTGGAATGGTGGGA 0.433000 5 12 0 0 0.001168 0 0 DNASE1L2 1775 broad.mit.edu 37 16 2287545 2287545 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:2287545G>A ENST00000564065.1 + 4 1487 c.486G>A c.(484-486)caG>caA p.Q162Q DNASE1L2_ENST00000567494.1_Silent_p.Q162Q|DNASE1L2_ENST00000382437.4_Silent_p.Q141Q|DNASE1L2_ENST00000320700.5_Silent_p.Q162Q Q92874 DNSL2_HUMAN deoxyribonuclease I-like 2 162 DNA catabolic process extracellular region calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding endometrium(1)|prostate(1)|skin(2) 4 CAGCAGCACAGAACCTGGTGC 0.701000 3 4 0 0 0.004672 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465272 37465272 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:37465272C>T ENST00000381792.2 - 16 2094 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652K Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 661 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CTGTCCTCTTCGTGGTACGGG 0.692000 7 15 0 0 0.006214 0 0 ZNF99 7652 broad.mit.edu 37 19 22941052 22941052 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22941052C>T ENST00000397104.3 - 5 1385 c.1386G>A c.(1384-1386)atG>atA p.M462I ZNF99_ENST00000596209.1_Missense_Mutation_p.M553I 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) TCTTATGTTTCATAAGGGTTG 0.333000 12 22 0 0 0.000978 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145781006 145781006 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:145781006G>A ENST00000276826.5 - 3 735 c.534C>T c.(532-534)ttC>ttT p.F178F ARHGAP39_ENST00000540274.1_Silent_p.F178F|ARHGAP39_ENST00000377307.2_Silent_p.F178F Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 178 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCTTCTCAAGGAACACTCCTG 0.453000 40 108 0 0 0.002522 0 0 LMO7 4008 broad.mit.edu 37 13 76408439 76408439 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:76408439G>A ENST00000357063.3 + 18 4558 c.3298G>A c.(3298-3300)Gat>Aat p.D1100N LMO7_ENST00000377534.3_Missense_Mutation_p.D1100N|LMO7_ENST00000341547.4_Missense_Mutation_p.D766N|LMO7_ENST00000526202.1_Missense_Mutation_p.D665N|LMO7_ENST00000321797.8_Missense_Mutation_p.D815N|LMO7_ENST00000465261.2_Missense_Mutation_p.D815N Q8WWI1 LMO7_HUMAN LIM domain 7 1100 PDZ. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTCATATAACGATTCAAAAGA 0.398000 41 79 0 0 0.006999 0 0 HFM1 164045 broad.mit.edu 37 1 91740330 91740330 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:91740330C>T ENST00000370425.3 - 33 3723 c.3625G>A c.(3625-3627)Gag>Aag p.E1209K HFM1_ENST00000370424.3_Missense_Mutation_p.E888K|HFM1_ENST00000294696.5_Missense_Mutation_p.E441K|HFM1_ENST00000462405.1_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1209 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AAACCAAACTCTTTAAGGTCC 0.303000 12 66 0 0 0.003163 0 0 HNRNPLL 92906 broad.mit.edu 37 2 38809232 38809232 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:38809232T>C ENST00000449105.2 - 5 1050 c.711A>G c.(709-711)ctA>ctG p.L237L HNRNPLL_ENST00000358367.4_Silent_p.L237L|HNRNPLL_ENST00000409636.1_Silent_p.L232L|HNRNPLL_ENST00000409328.1_Intron|HNRNPLL_ENST00000410076.1_Silent_p.L232L|HNRNPLL_ENST00000378915.3_Intron NM_138394.3 NP_612403.2 heterogeneous nuclear ribonucleoprotein L-like ATTCAATTTTTAGTGTGCAAC 0.338000 7 38 0 0 0.004482 0 0 PARD3 56288 broad.mit.edu 37 10 34636950 34636950 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:34636950C>T ENST00000374789.3 - 15 2486 c.2161G>A c.(2161-2163)Ggg>Agg p.G721R PARD3_ENST00000374773.1_Missense_Mutation_p.G721R|PARD3_ENST00000544292.1_Missense_Mutation_p.G438R|PARD3_ENST00000545693.1_Missense_Mutation_p.G708R|PARD3_ENST00000545260.1_Missense_Mutation_p.G664R|PARD3_ENST00000374768.1_Missense_Mutation_p.G159R|PARD3_ENST00000346874.4_Missense_Mutation_p.G721R|PARD3_ENST00000374788.3_Missense_Mutation_p.G721R|PARD3_ENST00000374794.3_Missense_Mutation_p.G664R|PARD3_ENST00000350537.4_Missense_Mutation_p.G708R|PARD3_ENST00000340077.5_Missense_Mutation_p.G721R|PARD3_ENST00000374790.3_Missense_Mutation_p.G664R|PARD3_ENST00000374776.1_Missense_Mutation_p.G708R NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 721 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CCCTCAATCCCACTGTAGAGG 0.488000 12 38 0 0 0.001855 0 0 FAM174B 400451 broad.mit.edu 37 15 93173526 93173526 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:93173526G>A ENST00000327355.5 - 2 692 c.394C>T c.(394-396)Cca>Tca p.P132S FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 132 integral to membrane endometrium(2)|lung(1) 3 CGCTCTGCTGGAGTGGTGATG 0.473000 9 36 0 0 0.006214 0 0 SKA1 220134 broad.mit.edu 37 18 47911610 47911610 + Silent SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:47911610T>G ENST00000285116.3 + 5 547 c.336T>G c.(334-336)ccT>ccG p.P112P SKA1_ENST00000398452.2_Silent_p.P112P|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Intron NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 112 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 ATCTTGATCCTGAAGAACCAA 0.373000 30 100 0 0 0.002096 0 0 C8orf44 56260 broad.mit.edu 37 8 67592026 67592026 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:67592026C>T ENST00000519561.1 + 3 468 c.317C>T c.(316-318)tCt>tTt p.S106F C8orf44_ENST00000390159.3_Missense_Mutation_p.S106F|C8orf44-SGK3_ENST00000519289.1_5'UTR|C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44_ENST00000518860.1_3'UTR NM_019607.2 NP_062553.1 Q96CB5 CH044_HUMAN chromosome 8 open reading frame 44 106 endometrium(1)|kidney(1)|lung(2) 4 Breast(64;0.186) Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149) CAAAAGGGGTCTTTGGCCATC 0.418000 31 45 0 0 0.002096 0 0 PRG3 10394 broad.mit.edu 37 11 57147044 57147044 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:57147044C>T ENST00000287143.2 - 3 407 c.298G>A c.(298-300)Gaa>Aaa p.E100K NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 100 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 CCCTGCACTTCAACAATGTCT 0.517000 32 104 0 0 0.008361 0 0 PPL 5493 broad.mit.edu 37 16 4934167 4934167 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:4934167C>T ENST00000345988.2 - 22 4578 c.4489G>A c.(4489-4491)Gag>Aag p.E1497K PPL_ENST00000590782.2_Missense_Mutation_p.E1495K NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1497 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 ACCACCTTCTCCTTGACCTCC 0.632000 24 26 0 0 0.006320 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62781359 62781359 + RNA SNP A A G rs3186956 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:62781359A>G ENST00000582986.1 - 0 2491 NR_024386.1 TCAGAGTGGGATCAGCAGAGG 0.607000 6 15 0 0 0.001168 0 0 DAPP1 27071 broad.mit.edu 37 4 100789302 100789302 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:100789302G>A ENST00000512369.1 + 9 871 c.803G>A c.(802-804)gGg>gAg p.G268E DAPP1_ENST00000296414.7_3'UTR NM_014395.2 NP_055210.2 Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 268 signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) CTCAACCAAGGGGAAGGCACG 0.428000 5 78 0 0 0.001168 0 0 XYLT1 64131 broad.mit.edu 37 16 17228497 17228497 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:17228497G>A ENST00000261381.6 - 9 1944 c.1860C>T c.(1858-1860)taC>taT p.Y620Y CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 620 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TACCTGCAGGGTAGTTCCCGT 0.567000 28 96 0 0 0.005443 0 0 FAM19A2 338811 broad.mit.edu 37 12 62104169 62104169 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:62104169C>T ENST00000551449.1 - 3 314 c.136G>A c.(136-138)Gat>Aat p.D46N FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000550003.1_3'UTR Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) CCTTGAGGATCACTTGATTTC 0.358000 52 146 0 0 0.003610 0 0 SLC4A10 57282 broad.mit.edu 37 2 162833319 162833319 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:162833319T>G ENST00000375514.5 + 25 3507 c.3220T>G c.(3220-3222)Ttg>Gtg p.L1074V SLC4A10_ENST00000446997.1_Missense_Mutation_p.L1093V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L1063V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L1063V|SLC4A10_ENST00000421911.1_Intron NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 1093 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 AAAGACTGCCTTGTGGAGGAA 0.343000 7 11 0 0 0.004482 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256527 24256527 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:24256527G>A ENST00000538205.1 + 10 1213 c.666G>A c.(664-666)aaG>aaA p.K222K ADAMDEC1_ENST00000256412.4_Silent_p.K301K|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.K222K|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 301 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TGGGGAAAAAGATCCACGACC 0.512000 10 31 0 0 0.000978 0 0 FRMPD2 143162 broad.mit.edu 37 10 49440233 49440233 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:49440233C>T ENST00000374201.3 - 10 1395 c.1093G>A c.(1093-1095)Gga>Aga p.G365R FRMPD2_ENST00000305531.3_Missense_Mutation_p.G341R|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G334R NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 365 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AAGACAGCTCCCACTGTTGAT 0.493000 33 38 0 0 0.003271 0 0 IGKV1OR2-118 339562 broad.mit.edu 37 2 90458670 90458670 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:90458670C>T ENST00000603238.1 + 2 346 c.346C>T c.(346-348)Cc>Tc p.116del CAGTACCCCTCCCACAGCGTT 0.517000 12 332 0 0 0.002450 0 0 CCDC136 64753 broad.mit.edu 37 7 128455871 128455871 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:128455871G>A ENST00000297788.4 + 16 3616 c.3249G>A c.(3247-3249)gaG>gaA p.E1083E CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1083 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 aaaatgaagaggacaaagagg 0.488000 9 8 0 0 0.006214 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146558 70146558 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70146558G>A ENST00000335568.5 + 1 342 c.340G>A c.(340-342)Gaa>Aaa p.E114K UGT2B28_ENST00000511240.1_Missense_Mutation_p.E114K NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 114 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) ACAAGAACAAGAAATCCTGTG 0.289000 62 88 0 0 0.003610 0 0 MCHR2 84539 broad.mit.edu 37 6 100403862 100403862 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:100403862G>A ENST00000281806.2 - 2 476 c.162C>T c.(160-162)ctC>ctT p.L54L MCHR2_ENST00000445970.1_Silent_p.L54L|MCHR2_ENST00000369212.1_Silent_p.L54L NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 54 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGAATACAATGAGGATGTTGC 0.388000 17 30 0 0 0.006122 0 0 ACMSD 130013 broad.mit.edu 37 2 135630063 135630063 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:135630063G>A ENST00000356140.5 + 8 837 c.701G>A c.(700-702)gGa>gAa p.G234E ACMSD_ENST00000283054.4_Missense_Mutation_p.G176E|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.G176E NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 234 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) TTCACAGTGGGAAGAATCTCC 0.468000 12 22 0 0 0.003163 0 0 RDH12 145226 broad.mit.edu 37 14 68193771 68193771 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:68193771C>T ENST00000551171.1 + 7 846 c.522C>T c.(520-522)tcC>tcT p.S174S RDH12_ENST00000539142.1_Silent_p.S174S|RDH12_ENST00000267502.3_Silent_p.S174S NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 174 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) TTAATGTGTCCTCGGTGGCTC 0.582000 14 48 0 0 0.004990 0 0 ERBB4 2066 broad.mit.edu 37 2 212426789 212426789 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:212426789C>T ENST00000342788.4 - 20 2636 c.2326G>A c.(2326-2328)Gat>Aat p.D776N ERBB4_ENST00000402597.1_Missense_Mutation_p.D766N|ERBB4_ENST00000436443.1_Missense_Mutation_p.D776N NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 776 Protein kinase. 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) TGTGGATGATCCATACTTGCC 0.433000 TSP Lung(8;0.080) 18 49 0 0 0.007413 0 0 LRRN1 57633 broad.mit.edu 37 3 3887126 3887126 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:3887126C>T ENST00000319331.3 + 2 1562 c.801C>T c.(799-801)ttC>ttT p.F267F SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 267 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATTTGAAATTCTTAGACCTCA 0.408000 25 38 0 0 0.004656 0 0 CSMD1 64478 broad.mit.edu 37 8 2830813 2830813 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:2830813G>A ENST00000602557.1 - 58 9307 c.8752C>T c.(8752-8754)Cct>Tct p.P2918S CSMD1_ENST00000602723.1_Missense_Mutation_p.P2860S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2859S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2860S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2917S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2918S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2918 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) CAGAATCCAGGATTATTTCCT 0.428000 100 181 0 0 0.003610 0 0 DPP10 57628 broad.mit.edu 37 2 116066841 116066841 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:116066841G>A ENST00000410059.1 + 2 567 c.87G>A c.(85-87)caG>caA p.Q29Q DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.Q22Q|DPP10_ENST00000393147.2_Silent_p.Q33Q NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 29 Mediates effects on KCND2. 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 GCCCTCCACAGAGAAACTGGA 0.393000 11 28 0 0 0.001368 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398203 77398203 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:77398203G>A ENST00000282849.5 - 5 1272 c.854C>T c.(853-855)tCa>tTa p.S285L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 285 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S285*(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 TTTTCCAGCTGATCTTCTGGG 0.483000 20 41 0 0 0.001882 0 0 ZNF676 163223 broad.mit.edu 37 19 22363177 22363177 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22363177G>A ENST00000397121.2 - 3 1659 c.1342C>T c.(1342-1344)Ccc>Tcc p.P448S NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CATTTGTAGGGTTTCTCTCCA 0.433000 30 42 0 0 0.001786 0 0 TRPC7 57113 broad.mit.edu 37 5 135583173 135583173 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:135583173G>A ENST00000513104.1 - 7 2112 c.1830C>T c.(1828-1830)aaC>aaT p.N610N TRPC7_ENST00000426057.2_Silent_p.N494N|TRPC7_ENST00000355180.3_Silent_p.N549N NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 610 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TAAACGCTGGGTTGTATTTGG 0.473000 33 23 0 0 0.002445 0 0 NEB 4703 broad.mit.edu 37 2 152512907 152512907 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:152512907G>A ENST00000427231.2 - 49 6457 c.6255C>T c.(6253-6255)ccC>ccT p.P2085P NEB_ENST00000409198.1_Silent_p.P2085P|NEB_ENST00000603639.1_Silent_p.P2085P|NEB_ENST00000172853.10_Silent_p.P2085P|NEB_ENST00000604864.1_Silent_p.P2085P|NEB_ENST00000397345.3_Silent_p.P2085P NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2085 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGACTAATTTGGGATCATCCT 0.413000 55 57 0 0 0.003610 0 0 OR8A1 390275 broad.mit.edu 37 11 124440061 124440061 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:124440061G>A ENST00000284287.3 + 1 169 c.97G>A c.(97-99)Ggt>Agt p.G33S NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) CATTCTCAAGGGTTTAACGAA 0.522000 26 16 0 0 0.006320 0 0 C11orf53 341032 broad.mit.edu 37 11 111156661 111156661 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:111156661T>A ENST00000280325.4 + 4 740 c.593T>A c.(592-594)gTg>gAg p.V198E NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 198 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CCGCCCAAGGTGGGGCCACTC 0.577000 50 21 0 0 0.003610 0 0 NEU2 4759 broad.mit.edu 37 2 233899191 233899191 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:233899191G>A ENST00000233840.3 + 2 567 c.567G>A c.(565-567)agG>agA p.R189R NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 189 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCATCCAAAGGCCGATCCCCT 0.662000 34 30 0 0 0.003755 0 0 KIF18B 146909 broad.mit.edu 37 17 43009596 43009596 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:43009596G>A ENST00000587309.1 - 10 1276 c.1253C>T c.(1252-1254)cCc>cTc p.P418L KIF18B_ENST00000339151.4_Missense_Mutation_p.P418L|KIF18B_ENST00000590129.1_Missense_Mutation_p.P427L|KIF18B_ENST00000438933.2_Missense_Mutation_p.P418L|KIF18B_ENST00000593135.1_Intron NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GGGTGGCAAGGGGGAGCTGGG 0.667000 20 22 0 0 0.001882 0 0 ROS1 6098 broad.mit.edu 37 6 117686325 117686325 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:117686325C>T ENST00000368508.3 - 20 3214 c.3016G>A c.(3016-3018)Gaa>Aaa p.E1006K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E1001K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1006 Fibronectin type-III 4. 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) TCCAGTCCTTCCACAGTAAAT 0.373000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 12 50 0 0 0.001855 0 0 TMCO5A 145942 broad.mit.edu 37 15 38233393 38233393 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:38233393A>T ENST00000558158.1 + 7 585 c.431A>T c.(430-432)aAg>aTg p.K144M TMCO5A_ENST00000559502.1_Missense_Mutation_p.K144M|TMCO5A_ENST00000540944.1_Missense_Mutation_p.K144M|TMCO5A_ENST00000319669.4_Missense_Mutation_p.K144M Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 144 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 TGCCAAGAGAAGGAGCTGCTC 0.423000 15 34 0 0 0.004990 0 0 SMPD3 55512 broad.mit.edu 37 16 68405116 68405116 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:68405116G>A ENST00000219334.5 - 3 1572 c.969C>T c.(967-969)ctC>ctT p.L323L SMPD3_ENST00000568373.1_Silent_p.L323L|SMPD3_ENST00000563226.1_Silent_p.L323L NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 323 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CCTTGTACAGGAGCTTGCTGT 0.697000 6 38 0 0 0.001168 0 0 ATG2A 23130 broad.mit.edu 37 11 64668368 64668368 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:64668368T>A ENST00000421419.2 - 30 4436 c.4322A>T c.(4321-4323)cAc>cTc p.H1441L ATG2A_ENST00000377264.3_Missense_Mutation_p.H1439L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1439 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 GTGGCCGGGGTGGGGGCCAAA 0.657000 3 4 0 0 0.004672 0 0 FRY 10129 broad.mit.edu 37 13 32811634 32811634 + Silent SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:32811634C>A ENST00000380250.3 + 44 6425 c.5929C>A c.(5929-5931)Cgg>Agg p.R1977R NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1977 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CGAACGGAGCCGGCATCAACG 0.537000 11 19 6.40141e-05 7.07494e-05 0.000978 1 0 ZNF812 729648 broad.mit.edu 37 19 9801330 9801330 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9801330C>T ENST00000457674.2 - 5 1367 c.849G>A c.(847-849)ggG>ggA p.G283G ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAGGCTTTCCCACATTCCG 0.378000 26 54 0 0 0.004656 0 0 NLRP10 338322 broad.mit.edu 37 11 7981952 7981952 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7981952C>T ENST00000328600.2 - 2 1368 c.1207G>A c.(1207-1209)Gag>Aag p.E403K NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 403 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGGGAAAGCTCGGAGCAGCCC 0.537000 24 52 0 0 0.003330 0 0 SEC14L1 6397 broad.mit.edu 37 17 75202465 75202465 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:75202465C>T ENST00000413679.2 + 12 1627 c.1324C>T c.(1324-1326)Cct>Tct p.P442S SEC14L1_ENST00000430767.4_Missense_Mutation_p.P442S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P442S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P442S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.P408S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P408S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P442S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P442S NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 442 CRAL-TRIO. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 CAGGGTATTTCCTGTGCTCTG 0.542000 28 37 0 0 0.002445 0 0 ATRN 8455 broad.mit.edu 37 20 3578606 3578606 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:3578606C>T ENST00000262919.5 + 22 3591 c.3523C>T c.(3523-3525)Cgc>Tgc p.R1175C ATRN_ENST00000446916.2_Missense_Mutation_p.R1175C NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1175 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GGAAGATGATCGCTATTACAC 0.318000 52 123 0 0 0.003610 0 0 CCDC141 285025 broad.mit.edu 37 2 179714883 179714883 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179714883C>T ENST00000420890.2 - 21 3367 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K CCDC141_ENST00000295723.5_Missense_Mutation_p.E509K NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 509 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TGTCCTTCTTCCAAACCTGGG 0.383000 19 22 0 0 0.007413 0 0 OR8B2 26595 broad.mit.edu 37 11 124252876 124252876 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:124252876G>A ENST00000375013.2 - 1 382 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GCCACATAGCGATCATATGCC 0.413000 15 10 0 0 0.002450 0 0 OR8D2 283160 broad.mit.edu 37 11 124189931 124189931 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:124189931G>A ENST00000357438.2 - 1 253 c.163C>T c.(163-165)Ctt>Ttt p.L55F NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 55 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) GGAGGGTAAAGTTGAGAACTG 0.433000 34 20 0 0 0.002096 0 0 FRAS1 80144 broad.mit.edu 37 4 79366899 79366899 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:79366899C>T ENST00000325942.6 + 42 6329 c.5889C>T c.(5887-5889)ccC>ccT p.P1963P FRAS1_ENST00000264895.6_Intron NM_001166133.1 NP_001159605.1 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 0 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 AGGTTGAGCCCTTGACCACAA 0.363000 76 107 0 0 0.003610 0 0 WDR7 23335 broad.mit.edu 37 18 54424156 54424156 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:54424156C>T ENST00000254442.3 + 15 2543 c.2332C>T c.(2332-2334)Cct>Tct p.P778S WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P778S NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 778 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AGAAAGTGATCCTGAATATCG 0.428000 6 26 0 0 0.001168 0 0 HOXD10 3236 broad.mit.edu 37 2 176982161 176982161 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:176982161G>T ENST00000249501.4 + 1 855 c.600G>T c.(598-600)aaG>aaT p.K200N HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 200 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) TGGAAAAGAAGATGAACGAGC 0.642000 9 37 0.000274275 0.000302595 0.004482 1 0 EZH2 2146 broad.mit.edu 37 7 148524336 148524336 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:148524336C>T ENST00000320356.2 - 7 769 c.648G>A c.(646-648)cgG>cgA p.R216R EZH2_ENST00000536783.1_Silent_p.R107R|EZH2_ENST00000476773.1_Silent_p.R207R|EZH2_ENST00000541220.1_Silent_p.R207R|EZH2_ENST00000478654.1_Silent_p.R207R|EZH2_ENST00000483967.1_Silent_p.R207R|EZH2_ENST00000460911.1_Silent_p.R216R|EZH2_ENST00000350995.2_Silent_p.R177R NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 216 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) AAGGAAATTTCCGAGGTGGGC 0.338000 Mis DLBCL 52 100 0 0 0.003610 0 0 FIGN 55137 broad.mit.edu 37 2 164466984 164466984 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:164466984G>A ENST00000333129.3 - 3 1672 c.1358C>T c.(1357-1359)tCc>tTc p.S453F FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 453 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 AGAGTGGTTGGATGAGGTAGC 0.542000 14 39 0 0 0.001855 0 0 LRRN1 57633 broad.mit.edu 37 3 3887429 3887429 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:3887429C>T ENST00000319331.3 + 2 1865 c.1104C>T c.(1102-1104)atC>atT p.I368I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 368 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AGATCAGTATCCATAGCAATC 0.493000 23 60 0 0 0.004656 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730451 140730451 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140730451C>T ENST00000523390.1 + 1 624 c.624C>T c.(622-624)atC>atT p.I208I PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCGCTTAATCCTGACTGCCA 0.507000 13 67 0 0 0.001368 0 0 MPP4 58538 broad.mit.edu 37 2 202545643 202545643 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:202545643C>T ENST00000409474.3 - 10 1054 c.847G>A c.(847-849)Gat>Aat p.D283N MPP4_ENST00000409143.1_Missense_Mutation_p.D256N|MPP4_ENST00000447335.2_Missense_Mutation_p.D283N|MPP4_ENST00000359962.5_Missense_Mutation_p.D283N|MPP4_ENST00000396886.3_Missense_Mutation_p.D239N|MPP4_ENST00000428900.2_Missense_Mutation_p.D283N|MPP4_ENST00000315506.7_Missense_Mutation_p.D270N NM_033066.2 NP_149055.1 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 283 SH3. cytoplasm protein binding kidney(1)|lung(11) 12 CAGAGGGCATCATTCTGGTCC 0.567000 OREG0015145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0 0 0.000602 0 0 SLC6A5 9152 broad.mit.edu 37 11 20649547 20649547 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:20649547C>T ENST00000525748.1 + 9 1690 c.1417C>T c.(1417-1419)Cag>Tag p.Q473* NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 473 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.Q473E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TGCTGCCACTCAGATTTTCTT 0.493000 9 49 0 0 0.006214 0 0 DKK3 27122 broad.mit.edu 37 11 11986121 11986121 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:11986121C>T ENST00000396505.2 - 8 1181 c.943G>A c.(943-945)Gag>Aag p.E315K DKK3_ENST00000525493.1_Missense_Mutation_p.E329K|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.E315K|DKK3_ENST00000450094.2_Missense_Mutation_p.E287K NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 315 adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) CGCACCTCCTCCATGAAGCTG 0.637000 47 51 0 0 0.002522 0 0 KIAA1467 57613 broad.mit.edu 37 12 13232794 13232794 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:13232794C>T ENST00000197268.8 + 12 1834 c.1714C>T c.(1714-1716)Cca>Tca p.P572S NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 572 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CGAAGGCCATCCAGCAGCCCT 0.532000 21 38 0 0 0.002299 0 0 SEMG2 6407 broad.mit.edu 37 20 43850512 43850512 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:43850512G>A ENST00000372769.3 + 2 329 c.239G>A c.(238-240)cGa>cAa p.R80Q NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 80 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) GACTGGACCCGAAAAAGTCAG 0.368000 30 42 0 0 0.002836 0 0 NOTCH4 4855 broad.mit.edu 37 6 32190850 32190850 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:32190850C>T ENST00000375023.3 - 2 225 c.87G>A c.(85-87)ggG>ggA p.G29G NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 29 EGF-like 1. 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 CTGGGAAACTCCCACACAGCA 0.617000 86 158 0 0 0.003610 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375886 93375886 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:93375886G>A ENST00000375765.3 - 2 612 c.224C>T c.(223-225)tCc>tTc p.S75F NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 75 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 TTTGGAGATGGACAGCCGCTG 0.557000 35 34 0 0 0.002836 0 0 TP53BP1 7158 broad.mit.edu 37 15 43705380 43705380 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:43705380C>A ENST00000263801.3 - 24 5479 c.5227G>T c.(5227-5229)Gac>Tac p.D1743Y TP53BP1_ENST00000382044.4_Missense_Mutation_p.D1748Y|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D1698Y|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D1746Y NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1743 BRCT 1. 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) GCCAACTTGTCACTGGTTGTG 0.552000 Other conserved DNA damage response genes 20 47 1.96895e-08 2.18323e-08 0.002780 1 0 CASZ1 54897 broad.mit.edu 37 1 10713736 10713736 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:10713736G>A ENST00000377022.3 - 11 2695 c.2378C>T c.(2377-2379)tCg>tTg p.S793L CASZ1_ENST00000344008.5_Missense_Mutation_p.S793L|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 793 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGGCAGGCCCGAGTTGGAGAG 0.701000 21 36 0 0 0.004656 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643682 37643682 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:37643682C>T ENST00000356958.4 - 5 1377 c.1119G>A c.(1117-1119)caG>caA p.Q373Q ZNF585A_ENST00000292841.5_Silent_p.Q318Q|ZNF585A_ENST00000392157.2_Silent_p.Q318Q|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTGAATTCTCTGATGAATAA 0.423000 32 54 0 0 0.001786 0 0 FAM135A 57579 broad.mit.edu 37 6 71185130 71185130 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:71185130C>T ENST00000418814.2 + 6 789 c.175C>T c.(175-177)Cca>Tca p.P59S FAM135A_ENST00000505769.1_Missense_Mutation_p.P59S|FAM135A_ENST00000361499.3_Missense_Mutation_p.P59S|FAM135A_ENST00000505868.1_Missense_Mutation_p.P59S|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000370479.3_Intron NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 59 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TTTAGCCTTTCCAGCCTCAGT 0.269000 6 10 0 0 0.001984 0 0 YIF1B 90522 broad.mit.edu 37 19 38799966 38799966 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38799966G>A ENST00000392124.3 - 2 521 c.207C>T c.(205-207)atC>atT p.I69I YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000591784.1_Silent_p.I69I|YIF1B_ENST00000592694.1_Silent_p.I69I|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000339413.6_Silent_p.I100I|YIF1B_ENST00000337679.8_Silent_p.I97I|YIF1B_ENST00000591755.1_Silent_p.I97I|YIF1B_ENST00000329420.8_Silent_p.I85I NM_033557.3 NP_291035.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) 100 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGAAGCGGTCGATCTGGGGAG 0.587000 45 83 0 0 0.002852 0 0 SLC22A12 116085 broad.mit.edu 37 11 64367185 64367185 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:64367185G>A ENST00000377574.1 + 7 1855 c.1108G>A c.(1108-1110)Gac>Aac p.D370N SLC22A12_ENST00000377567.2_Missense_Mutation_p.D262N|SLC22A12_ENST00000336464.7_Missense_Mutation_p.D336N|SLC22A12_ENST00000473690.1_Missense_Mutation_p.D149N|SLC22A12_ENST00000377572.1_Missense_Mutation_p.D262N NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 370 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CCTGGCCCTGGACCTGCAGGC 0.657000 9 36 0 0 0.006214 0 0 PMPCB 9512 broad.mit.edu 37 7 102948111 102948111 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:102948111G>A ENST00000249269.4 + 7 843 c.805G>A c.(805-807)Gga>Aga p.G269R PMPCB_ENST00000420236.2_Missense_Mutation_p.G164R|PMPCB_ENST00000428154.1_Missense_Mutation_p.G269R NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 269 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACACACAAAGGAGAAATACC 0.393000 9 38 0 0 0.008291 0 0 CDT1 81620 broad.mit.edu 37 16 88872152 88872152 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:88872152T>C ENST00000301019.4 + 5 1326 c.707T>C c.(706-708)gTt>gCt p.V236A NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 236 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) GAGTGCAATGTTGGCCAGATC 0.652000 13 39 0 0 0.001855 0 0 SLC28A2 9153 broad.mit.edu 37 15 45545416 45545416 + Translation_Start_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:45545416G>A ENST00000347644.3 + 2 68 c.3G>A c.(1-3)atG>atA p.M1I CTD-2651B20.3_ENST00000559003.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 1 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) AACAGGAGATGGAGAAAGCAA 0.483000 19 16 0 0 0.001523 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432604 104432604 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:104432604C>T ENST00000361820.3 - 3 2690 c.2090G>A c.(2089-2091)tGg>tAg p.W697* NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 697 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGGACTCTTCCATTCATACAG 0.488000 54 40 0 0 0.003610 0 0 VPS13A 23230 broad.mit.edu 37 9 79865028 79865028 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:79865028C>T ENST00000360280.3 + 21 2313 c.2053C>T c.(2053-2055)Cgt>Tgt p.R685C VPS13A_ENST00000376634.4_Missense_Mutation_p.R685C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R685C|VPS13A_ENST00000357409.5_Missense_Mutation_p.R685C NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 685 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 GAGTAAAAGTCGTTCTGAATT 0.294000 20 14 0 0 0.001523 0 0 GPX6 257202 broad.mit.edu 37 6 28472197 28472197 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:28472197G>A ENST00000361902.1 - 5 587 c.538C>T c.(538-540)Cgc>Tgc p.R180C GPX6_ENST00000474923.1_Silent_p.S146S NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 180 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) AAGTTCCAGCGGATATCATGG 0.522000 24 56 0 0 0.002299 0 0 OR4A15 81328 broad.mit.edu 37 11 55135551 55135551 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55135551G>A ENST00000314706.3 + 1 192 c.192G>A c.(190-192)atG>atA p.M64I NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 64 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 TAATCTACATGGTGACGATAA 0.418000 27 32 0 0 0.004656 0 0 KIF26B 55083 broad.mit.edu 37 1 245852056 245852056 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:245852056C>T ENST00000366518.4 + 9 4732 c.4628C>T c.(4627-4629)tCc>tTc p.S1543F KIF26B_ENST00000407071.2_Missense_Mutation_p.S1924F Q2KJY2 KI26B_HUMAN kinesin family member 26B 1924 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) AACAGCAGCTCCGTGGGCGGC 0.716000 6 20 0 0 0.001984 0 0 SPPL2C 162540 broad.mit.edu 37 17 43924026 43924026 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:43924026C>T ENST00000329196.5 + 1 1771 c.1754C>T c.(1753-1755)aCc>aTc p.T585I MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 585 integral to membrane aspartic-type endopeptidase activity GAGATTGTCACCATATCTGAG 0.572000 48 74 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152286887 152286887 + Nonsense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:152286887T>A ENST00000368799.1 - 3 510 c.475A>T c.(475-477)Aaa>Taa p.K159* FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 159 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) TTTCTTTCTTTTTTTTCAGAA 0.348000 Ichthyosis 36 65 0 0 0.004289 0 0 FBXL18 80028 broad.mit.edu 37 7 5545201 5545201 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:5545201G>T ENST00000382368.3 - 2 202 c.79C>A c.(79-81)Cac>Aac p.H27N FBXL18_ENST00000453700.3_Missense_Mutation_p.H27N NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 27 F-box. FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CCTAGGAGGTGGACCCCGTCT 0.552000 36 70 1.30475e-32 1.46416e-32 0.002222 1 0 OLIG3 167826 broad.mit.edu 37 6 137814848 137814848 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:137814848C>G ENST00000367734.2 - 1 683 c.460G>C c.(460-462)Ggc>Cgc p.G154R NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GAGTGGTGGCCCCCATAGATC 0.662000 13 25 0 0 0.002450 0 0 COL11A1 1301 broad.mit.edu 37 1 103496800 103496800 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:103496800C>T ENST00000358392.2 - 5 969 c.651_splice c.e5-1 p.G218_splice COL11A1_ENST00000353414.4_Splice_Site_p.G218_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G218_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G218_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 218 TSP N-terminal. 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) TGAATGTCCCCCTGGGAAAAA 0.383000 5 14 0 0 0.000602 0 0 DAO 1610 broad.mit.edu 37 12 109284019 109284019 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:109284019G>A ENST00000228476.3 + 5 626 c.422G>A c.(421-423)gGa>gAa p.G141E DAO_ENST00000551281.1_Intron NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 141 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 ATTCTGGAGGGAAAGAACTAT 0.438000 30 46 0 0 0.002445 0 0 COL4A4 1286 broad.mit.edu 37 2 227896927 227896927 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:227896927G>A ENST00000396625.3 - 39 3850 c.3643C>T c.(3643-3645)Cct>Tct p.P1215S COL4A4_ENST00000329662.7_Missense_Mutation_p.P1215S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1215 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) GGGCTCCCAGGGTCTCCTCTC 0.512000 37 47 0 0 0.003755 0 0 ANK3 288 broad.mit.edu 37 10 61959913 61959913 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:61959913C>T ENST00000280772.1 - 13 1656 c.1465G>A c.(1465-1467)Gga>Aga p.G489R ANK3_ENST00000373827.2_Missense_Mutation_p.G483R|ANK3_ENST00000503366.1_Missense_Mutation_p.G472R NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 489 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 ACCTGAGCTCCGTCTTGTACC 0.428000 16 29 0 0 0.004990 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485261 97485261 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:97485261G>A ENST00000376705.2 + 2 1249 c.1225G>A c.(1225-1227)Gag>Aag p.E409K NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 409 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) GCAGCTTTACGAGTATGCAAA 0.572000 44 45 0 0 0.008740 0 0 RPTOR 57521 broad.mit.edu 37 17 78897336 78897336 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:78897336G>A ENST00000306801.3 + 23 3033 c.2671G>A c.(2671-2673)Gat>Aat p.D891N RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D733N NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 891 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CCTGACCAACGATGTGGCCAA 0.652000 19 29 0 0 0.001523 0 0 GXYLT2 727936 broad.mit.edu 37 3 73004310 73004310 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:73004310C>A ENST00000389617.4 + 4 823 c.662C>A c.(661-663)cCt>cAt p.P221H NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 221 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 TTTCTGAGACCTGTTGATGAC 0.517000 17 32 2.23348e-06 2.47141e-06 0.004007 1 0 VEGFC 7424 broad.mit.edu 37 4 177608341 177608341 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:177608341C>T ENST00000280193.2 - 6 1560 c.1145_splice c.e6+1 p.S382_splice RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 382 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GATCTCTTACCTGCATGTTTG 0.348000 64 87 0 0 0.003610 0 0 XPO5 57510 broad.mit.edu 37 6 43526285 43526285 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:43526285G>A ENST00000265351.7 - 12 1475 c.1265C>T c.(1264-1266)tCt>tTt p.S422F XPO5_ENST00000424378.2_5'UTR NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 422 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) ATCAAACCGAGAATATTCACA 0.423000 9 13 0 0 0.004482 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206902411 206902411 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:206902411C>T ENST00000367103.3 + 3 644 c.451C>T c.(451-453)Cag>Tag p.Q151* MAPKAPK2_ENST00000294981.4_Nonsense_Mutation_p.Q151* NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 151 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) TAGCCGAATCCAGGATCGAGG 0.567000 12 30 0 0 0.003163 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838578 16838578 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:16838578G>A ENST00000355661.3 - 11 1645 c.1635C>T c.(1633-1635)tcC>tcT p.S545S PLEKHA7_ENST00000531066.1_Silent_p.S545S|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.S545S Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 545 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGAACTCTGGGGAGCCAAGGC 0.697000 25 24 0 0 0.003954 0 0 PIGT 51604 broad.mit.edu 37 20 44047558 44047558 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:44047558C>T ENST00000535404.1 + 3 446 c.68C>T c.(67-69)tCa>tTa p.S23L PIGT_ENST00000543458.2_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000279036.6_Silent_p.F144F|PIGT_ENST00000372689.5_Silent_p.F144F|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Intron Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 0 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) CTCTCAACTTCATCGACTCCA 0.512000 54 74 0 0 0.003610 0 0 TMEM63C 57156 broad.mit.edu 37 14 77719649 77719649 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:77719649C>T ENST00000298351.4 + 23 2294 c.2148_splice c.e23-1 p.P717_splice NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 717 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CTGCTGCAGCCCGAGGAGGAG 0.622000 6 3 0 0 0.001168 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189903 58189903 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:58189903C>T ENST00000318203.5 + 5 1629 c.932C>T c.(931-933)tCa>tTa p.S311L NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 311 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) GTCCAAAAATCATACAAATGT 0.473000 21 38 0 0 0.002299 0 0 NLRP14 338323 broad.mit.edu 37 11 7059824 7059824 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7059824G>A ENST00000299481.4 + 2 353 c.7G>A c.(7-9)Gat>Aat p.D3N NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 3 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CAAGATGGCAGATTCATCATC 0.358000 34 69 0 0 0.004289 0 0 UGT1A3 54659 broad.mit.edu 37 2 234637957 234637957 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:234637957C>T ENST00000482026.1 + 1 204 c.185C>T c.(184-186)aCc>aTc p.T62I UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_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) GTGGTCCTCACCCCAGAGGTG 0.557000 21 67 0 0 0.001523 0 0 CLEC18B 497190 broad.mit.edu 37 16 74447545 74447545 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:74447545G>A ENST00000339953.5 - 4 607 c.486C>T c.(484-486)ggC>ggT p.G162G NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 162 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCCGCCCACAGCCCAGCTGGC 0.607000 16 98 0 0 0.007413 0 0 KMT2A 4297 broad.mit.edu 37 11 118366446 118366446 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:118366446C>T ENST00000534358.1 + 19 5418 c.5395C>T c.(5395-5397)Cct>Tct p.P1799S KMT2A_ENST00000354520.4_Missense_Mutation_p.P1758S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P1796S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGTGCTTCCACCTTCACTTGA 0.408000 35 25 0 0 0.004289 0 0 DCD 117159 broad.mit.edu 37 12 55039462 55039462 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:55039462C>T ENST00000456047.2 - 3 316 c.127G>A c.(127-129)Gaa>Aaa p.E43K DCD_ENST00000293371.6_Missense_Mutation_p.E43K P81605 DCD_HUMAN dermcidin 43 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding p.E43K(1) large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) CCTGCATTTTCCTTTTGAGCT 0.517000 40 77 0 0 0.003610 0 0 ATP10B 23120 broad.mit.edu 37 5 159996682 159996682 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:159996682G>A ENST00000327245.5 - 25 4605 c.3759C>T c.(3757-3759)ttC>ttT p.F1253F NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1253 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 NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGACTCCGTGGAAAATGGTCT 0.468000 7 39 0 0 0.001984 0 0 CFTR 1080 broad.mit.edu 37 7 117246732 117246732 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:117246732G>A ENST00000003084.6 + 18 3045 c.2913G>A c.(2911-2913)ggG>ggA p.G971G AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.G910G NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 971 ABC transmembrane type-1 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) TTATAGGTGGGATTCTTAATA 0.303000 Cystic Fibrosis 59 111 0 0 0.003610 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218220 244218220 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:244218220C>T ENST00000358704.4 + 2 1293 c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CTTCATGTGCCCCCTGTGCAA 0.657000 12 25 0 0 0.001368 0 0 CSMD2 114784 broad.mit.edu 37 1 34258122 34258122 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:34258122G>A ENST00000373381.4 - 11 1628 c.1452C>T c.(1450-1452)atC>atT p.I484I CSMD2_ENST00000338325.1_Silent_p.I92I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 444 CUB 3. 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) AGGCGAGCTTGATCACCTAGG 0.537000 17 29 0 0 0.004007 0 0 ABCB1 5243 broad.mit.edu 37 7 87175289 87175289 + Missense_Mutation SNP G G A rs28381914 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:87175289G>A ENST00000265724.3 - 16 2194 c.1777C>T c.(1777-1779)Cgt>Tgt p.R593C ABCB1_ENST00000543898.1_Missense_Mutation_p.R529C NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 593 ABC transporter 1. R -> C (in dbSNP:rs28381914). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCAGCATTACGAACTGTAGAC 0.393000 30 55 0 0 0.008361 0 0 DSG3 1830 broad.mit.edu 37 18 29044228 29044228 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29044228C>T ENST00000257189.4 + 9 1237 c.1154C>T c.(1153-1155)cCt>cTt p.P385L NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 385 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) GCATTCCGTCCTGCTTCCAAG 0.393000 22 26 0 0 0.001882 0 0 MYH13 8735 broad.mit.edu 37 17 10227386 10227386 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10227386G>A ENST00000418404.3 - 22 3050 c.2887C>T c.(2887-2889)Ctg>Ttg p.L963L MYH13_ENST00000252172.4_Silent_p.L963L|MYH13_ENST00000570743.1_Silent_p.L963L|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 963 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTCAAGGTCAGCTCCAGGTCA 0.463000 27 12 0 0 0.003954 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237445 140237445 + Silent SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140237445G>C ENST00000307360.5 + 1 1812 c.1812G>C c.(1810-1812)gcG>gcC p.A604A PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_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) GATACAACGCGTGGCTGTCGT 0.652000 10 12 0 0 0.008291 0 0 SPIC 121599 broad.mit.edu 37 12 101876674 101876674 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:101876674A>G ENST00000551346.1 + 5 474 c.315A>G c.(313-315)ggA>ggG p.G105G SPIC_ENST00000299272.5_Silent_p.G105G Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 105 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 AAAAGGGGGGAAAAGGTACGT 0.393000 34 60 0 0 0.002445 0 0 UNC5D 137970 broad.mit.edu 37 8 35648049 35648049 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:35648049G>A ENST00000287272.2 + 16 2643 c.2623G>A c.(2623-2625)Gac>Aac p.D875N UNC5D_ENST00000453357.2_Missense_Mutation_p.D939N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D877N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D520N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D949N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D944N Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 944 Death. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGATGAAGCCGACTTCAACTA 0.498000 8 48 0 0 0.003080 0 0 TP53BP1 7158 broad.mit.edu 37 15 43705379 43705379 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:43705379T>G ENST00000263801.3 - 24 5480 c.5228A>C c.(5227-5229)gAc>gCc p.D1743A TP53BP1_ENST00000382044.4_Missense_Mutation_p.D1748A|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D1698A|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D1746A NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1743 BRCT 1. 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) GGCCAACTTGTCACTGGTTGT 0.552000 Other conserved DNA damage response genes 20 45 0 0 0.003330 0 0 TNRC18 84629 broad.mit.edu 37 7 5413788 5413788 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:5413788G>A ENST00000399537.4 - 10 3475 c.3127C>T c.(3127-3129)Ccg>Tcg p.P1043S TNRC18_ENST00000430969.1_Missense_Mutation_p.P1043S O15417 TNC18_HUMAN trinucleotide repeat containing 18 1043 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GTGATACCCGGGGTGGGCGGT 0.682000 3 13 0 0 0.004672 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242225 5242225 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:5242225G>A ENST00000274181.7 + 17 2721 c.2583G>A c.(2581-2583)ggG>ggA p.G861G NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 861 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CTCGCTTGGGGACCGAGAAGC 0.562000 34 54 0 0 0.004878 0 0 OR9K2 441639 broad.mit.edu 37 12 55523706 55523706 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:55523706C>T ENST00000305377.5 + 1 242 c.154C>T c.(154-156)Ctc>Ttc p.L52F NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L52I(1) NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 CCACATTCTCCTCTTCCTGCT 0.453000 46 102 0 0 0.003610 0 0 CD93 22918 broad.mit.edu 37 20 23064978 23064978 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:23064978C>T ENST00000246006.4 - 1 1999 c.1852G>A c.(1852-1854)Gag>Aag p.E618K NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 618 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) GGCTTCTTCTCCTTCTTCTCC 0.597000 57 110 0 0 0.003610 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772607 140772607 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140772607C>T ENST00000398604.2 + 1 227 c.227C>T c.(226-228)gCt>gTt p.A76V PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCTCTTTGCTCTGAACCCG 0.602000 22 25 0 0 0.003330 0 0 DNAH3 55567 broad.mit.edu 37 16 20974677 20974677 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:20974677C>T ENST00000261383.3 - 53 10528 c.10529G>A c.(10528-10530)gGa>gAa p.G3510E DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3510 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATTGTAGGATCCCTGGAGATC 0.507000 28 22 0 0 0.005443 0 0 ACOX3 8310 broad.mit.edu 37 4 8394118 8394118 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:8394118G>A ENST00000356406.5 - 11 1319 c.1242C>T c.(1240-1242)acC>acT p.T414T ACOX3_ENST00000413009.2_Silent_p.T414T|ACOX3_ENST00000503233.1_Silent_p.T414T NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 414 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 CTTGCTGGGTGGTCCACGAGG 0.582000 104 157 0 0 0.003610 0 0 NBPF8 728841 broad.mit.edu 37 1 144220790 144220790 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:144220790C>T ENST00000369373.5 + 2 57 c.57C>T c.(55-57)ctC>ctT p.L19L neuroblastoma breakpoint family, member 8 TTTCCAGGCTCAGCAGGGAGC 0.448000 19 221 0 0 0.001882 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634843 70634843 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:70634843C>T ENST00000381269.2 - 2 1050 c.297G>A c.(295-297)atG>atA p.M99I SLC8A3_ENST00000528359.1_Missense_Mutation_p.M99I|SLC8A3_ENST00000357887.3_Missense_Mutation_p.M99I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.M99I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.M99I NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 99 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) CAATAGATGCCATGAAGCGGT 0.473000 12 30 0 0 0.000978 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011132 23011132 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:23011132G>A ENST00000390304.2 + 0 233 CTGTGCTGGTGATTTATAAAG 0.587000 23 39 0 0 0.003954 0 0 CNDP1 84735 broad.mit.edu 37 18 72234659 72234659 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:72234659C>T ENST00000582365.1 + 5 684 c.618C>T c.(616-618)ttC>ttT p.F206F CNDP1_ENST00000358821.3_Silent_p.F249F Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 249 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) ACAGCTACTTCATGGTGGAGG 0.502000 9 47 0 0 0.006214 0 0 PRX 57716 broad.mit.edu 37 19 40901190 40901190 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:40901190G>A ENST00000324001.7 - 7 3339 c.3069C>T c.(3067-3069)ctC>ctT p.L1023L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1023 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) CAAACTTGGGGAGAGCAAACC 0.637000 33 52 0 0 0.003755 0 0 OR2D2 120776 broad.mit.edu 37 11 6912877 6912877 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6912877G>A ENST00000299459.2 - 1 953 c.855C>T c.(853-855)ccC>ccT p.P285P NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TATAGATGAGGGGATTAAGCA 0.443000 29 45 0 0 0.008361 0 0 ABCF2 10061 broad.mit.edu 37 7 150912052 150912052 + Silent SNP G G A rs144967351 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150912052G>A ENST00000287844.2 - 14 1756 c.1647C>T c.(1645-1647)atC>atT p.I549I ABCF2_ENST00000222388.2_Silent_p.I549I NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 549 ABC transporter 2. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGATGGTCTCGATATCCAGGT 0.572000 20 37 0 0 0.001523 0 0 LMAN2 10960 broad.mit.edu 37 5 176764494 176764494 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:176764494T>G ENST00000303127.7 - 5 749 c.545A>C c.(544-546)aAc>aCc p.N182T LMAN2_ENST00000506310.1_Intron|LMAN2_ENST00000515209.1_Missense_Mutation_p.N182T NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 182 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGCCATTGTTCACCATCAC 0.642000 5 31 0 0 0.000602 0 0 C2orf78 388960 broad.mit.edu 37 2 74040936 74040936 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:74040936G>A ENST00000409561.1 + 2 551 c.430G>A c.(430-432)Gac>Aac p.D144N NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 144 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CTCACTCAGGGACTTCACTGT 0.448000 12 22 0 0 0.001368 0 0 ABCC1 4363 broad.mit.edu 37 16 16228264 16228264 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:16228264C>T ENST00000399408.2 + 29 4229 c.4054C>T c.(4054-4056)Cgg>Tgg p.R1352W ABCC1_ENST00000349029.5_Missense_Mutation_p.R1227W|ABCC1_ENST00000345148.5_Missense_Mutation_p.R1342W|ABCC1_ENST00000351154.5_Missense_Mutation_p.R1283W|ABCC1_ENST00000399410.3_Missense_Mutation_p.R1342W|ABCC1_ENST00000346370.5_Missense_Mutation_p.R1286W P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1342 ABC transporter 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R1342W(1) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGGCTTATTTCGGATCAACGA 0.597000 32 55 0 0 0.001786 0 0 CDKAL1 54901 broad.mit.edu 37 6 21108659 21108659 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:21108659C>T ENST00000274695.4 + 13 1431 c.1264C>T c.(1264-1266)Cgg>Tgg p.R422W CDKAL1_ENST00000378624.4_Intron|CDKAL1_ENST00000378610.1_Missense_Mutation_p.R422W NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 422 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) AGATCTTTCTCGGGTGTTTCA 0.294000 139 237 0 0 0.003610 0 0 CLGN 1047 broad.mit.edu 37 4 141317292 141317292 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:141317292C>T ENST00000325617.5 - 9 1392 c.952G>A c.(952-954)Gaa>Aaa p.E318K CLGN_ENST00000414773.1_Missense_Mutation_p.E318K|CLGN_ENST00000537281.1_Missense_Mutation_p.E318K NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 318 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) AATTTTGGTTCATCATCAAGC 0.348000 47 93 0 0 0.003610 0 0 ZNF479 90827 broad.mit.edu 37 7 57194384 57194384 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:57194384C>T ENST00000331162.4 - 3 351 c.81G>A c.(79-81)ctG>ctA p.L27L NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GCCATTCCTCCAGAGAGAATT 0.433000 21 36 0 0 0.002299 0 0 OR11H6 122748 broad.mit.edu 37 14 20692516 20692516 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:20692516C>T ENST00000315519.2 + 1 726 c.648C>T c.(646-648)atC>atT p.I216I NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CTGAGCTTATCTGTTACACCT 0.502000 19 24 0 0 0.003954 0 0 CATSPERD 257062 broad.mit.edu 37 19 5729904 5729904 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:5729904G>A ENST00000381624.3 + 4 286 c.225G>A c.(223-225)atG>atA p.M75I CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 75 integral to membrane TTTTCACAATGGATAACTTTG 0.303000 36 50 0 0 0.005524 0 0 NRG2 9542 broad.mit.edu 37 5 139251314 139251314 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:139251314G>A ENST00000394770.1 - 4 1328 c.1104C>T c.(1102-1104)ctC>ctT p.L368L NRG2_ENST00000289422.7_Silent_p.L368L|NRG2_ENST00000358522.3_Silent_p.L368L|NRG2_ENST00000289409.4_Silent_p.L368L|NRG2_ENST00000545385.1_Silent_p.L368L|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000340391.3_Silent_p.L165L|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000361474.1_Silent_p.L368L O14511 NRG2_HUMAN neuregulin 2 368 EGF-like. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTGCAGGAGAGCTGGTTGA 0.567000 24 66 0 0 0.003954 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800779 185800779 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:185800779C>T ENST00000302277.6 + 4 1250 c.656C>T c.(655-657)cCa>cTa p.P219L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 219 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTTGCATTTCCAAAGAAAGCG 0.418000 25 34 0 0 0.005443 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069569 114069569 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:114069569G>A ENST00000462705.1 - 11 1958 c.1137C>T c.(1135-1137)tcC>tcT p.S379S ZBTB20_ENST00000393785.2_Silent_p.S379S|ZBTB20_ENST00000481632.1_Silent_p.S379S|ZBTB20_ENST00000357258.3_Silent_p.S379S|ZBTB20_ENST00000471418.1_Silent_p.S379S|ZBTB20_ENST00000464560.1_Silent_p.S379S|ZBTB20_ENST00000474710.1_Silent_p.S452S NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CGCTCTTGTCGGAGCTGTTGC 0.542000 4 46 0 0 0.000602 0 0 OR5K4 403278 broad.mit.edu 37 3 98073291 98073291 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:98073291G>A ENST00000354924.2 + 1 594 c.594G>A c.(592-594)atG>atA p.M198I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 ATGAACTAATGATATATATCT 0.328000 22 24 0 0 0.001523 0 0 CLDN6 9074 broad.mit.edu 37 16 3065567 3065567 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:3065567C>T ENST00000396925.1 - 3 884 c.456G>A c.(454-456)gtG>gtA p.V152V CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.V152V P56747 CLD6_HUMAN claudin 6 152 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGGCCTCAGCCACCAGGGGGT 0.622000 7 10 0 0 0.001984 0 0 ABHD17A 81926 broad.mit.edu 37 19 1881283 1881283 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:1881283G>A ENST00000292577.7 - 2 716 c.283C>T c.(283-285)Cgc>Tgc p.R95C ABHD17A_ENST00000250974.9_Missense_Mutation_p.R95C|ABHD17A_ENST00000590661.1_Missense_Mutation_p.R95C NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A CGGTTGCCGCGGGCGCTCTTG 0.682000 19 30 0 0 0.002836 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529993 140529993 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140529993G>A ENST00000231136.1 + 1 155 c.155G>A c.(154-156)gGa>gAa p.G52E PCDHB6_ENST00000543635.1_Intron NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 52 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGGACCTGGGACTGAGGGTG 0.512000 41 53 0 0 0.002222 0 0 MMRN1 22915 broad.mit.edu 37 4 90857605 90857605 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:90857605A>C ENST00000394980.1 + 7 3093 c.2774A>C c.(2773-2775)cAc>cCc p.H925P MMRN1_ENST00000264790.2_Missense_Mutation_p.H925P|MMRN1_ENST00000508372.1_Missense_Mutation_p.H667P|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 925 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) AAAACTCTCCACGAAGTTTTA 0.373000 15 31 0 0 0.003163 0 0 NMUR2 56923 broad.mit.edu 37 5 151777675 151777675 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:151777675C>T ENST00000255262.3 - 2 922 c.757G>A c.(757-759)Gaa>Aaa p.E253K NMUR2_ENST00000518933.1_5'UTR NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 253 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) GCATTCCCTTCATCTGCCTCA 0.363000 22 37 0 0 0.002780 0 0 NOVA1 4857 broad.mit.edu 37 14 26917425 26917425 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:26917425C>T ENST00000539517.2 - 5 1581 c.1264G>A c.(1264-1266)Gat>Aat p.D422N NOVA1_ENST00000465357.2_Missense_Mutation_p.D398N|NOVA1_ENST00000267422.7_Missense_Mutation_p.D300N NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 425 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TCAACTACATCCTTGGATCCA 0.468000 19 46 0 0 0.001523 0 0 UNC13C 440279 broad.mit.edu 37 15 54305335 54305335 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:54305335G>A ENST00000545554.1 + 1 235 c.235G>A c.(235-237)Gaa>Aaa p.E79K UNC13C_ENST00000537900.1_Missense_Mutation_p.E79K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E79K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 79 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) ATCCACTGAGGAAGACGAGGC 0.423000 38 35 0 0 0.006230 0 0 PAFAH1B2 5049 broad.mit.edu 37 11 117034544 117034544 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:117034544G>C ENST00000527958.1 + 5 506 c.347G>C c.(346-348)gGt>gCt p.G116A PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.G116A|PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.G116A|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.G116A NM_002572.3 NP_002563.1 P68402 PA1B2_HUMAN platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 116 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity kidney(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111) GAAGTAGCAGGTGGGATCGAG 0.428000 T IGH@ MLCLS 37 33 0 0 0.003271 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114448322 114448322 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:114448322G>A ENST00000369563.3 + 1 560 c.114G>A c.(112-114)gtG>gtA p.V38V DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 38 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) ACCACACCGTGGGCCTGTCTA 0.627000 Other identified genes with known or suspected DNA repair function OREG0004772 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 23 39 0 0 0.003330 0 0 CCDC108 255101 broad.mit.edu 37 2 219895915 219895915 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219895915G>A ENST00000341552.5 - 8 1011 c.928C>T c.(928-930)Ctt>Ttt p.L310F CCDC108_ENST00000410037.1_Missense_Mutation_p.L245F|CCDC108_ENST00000441968.1_Missense_Mutation_p.L310F|CCDC108_ENST00000453220.1_Missense_Mutation_p.L310F|CCDC108_ENST00000409865.3_Missense_Mutation_p.L299F NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 310 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) ACGGCTGTAAGGGGCTGAAAG 0.652000 5 21 0 0 0.001168 0 0 PNMAL1 55228 broad.mit.edu 37 19 46974164 46974164 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:46974164C>A ENST00000313683.10 - 2 434 c.129G>T c.(127-129)ttG>ttT p.L43F PNMAL1_ENST00000438932.2_Missense_Mutation_p.L43F|PNMAL1_ENST00000602246.1_Missense_Mutation_p.L43F NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 43 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ggaccccattcaaggtctcct 0.542000 27 45 3.01185e-09 3.3446e-09 0.003954 1 0 DENND4B 9909 broad.mit.edu 37 1 153906756 153906756 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:153906756G>A ENST00000361217.4 - 19 3214 c.2796C>T c.(2794-2796)tcC>tcT p.S932S NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 932 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCGAGTAGGGGAAGGGCGCT 0.587000 5 9 0 0 0.001168 0 0 KIF5A 3798 broad.mit.edu 37 12 57971793 57971793 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57971793C>T ENST00000455537.2 + 22 2637 c.2361_splice c.e22-1 p.A788_splice KIF5A_ENST00000286452.5_Splice_Site_p.A699_splice NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 788 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 TCTTTCCAGGCCCGGGAACTC 0.483000 22 57 0 0 0.002780 0 0 SLC22A3 6581 broad.mit.edu 37 6 160829824 160829824 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:160829824G>A ENST00000392145.1 + 4 755 c.728G>A c.(727-729)gGa>gAa p.G243E SLC22A3_ENST00000275300.2_Missense_Mutation_p.G243E O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 243 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) AGGATTGTGGGAATCGTGATT 0.423000 16 29 0 0 0.004990 0 0 GPR98 84059 broad.mit.edu 37 5 90055394 90055394 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:90055394G>A ENST00000405460.2 + 58 12205 c.12109G>A c.(12109-12111)Gaa>Aaa p.E4037K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4037 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTTGGATTTGAAGAAAAGAC 0.378000 7 24 0 0 0.004482 0 0 C21orf58 54058 broad.mit.edu 37 21 47742623 47742623 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:47742623G>A ENST00000291691.7 - 1 1166 c.30C>T c.(28-30)tcC>tcT p.S10S C21orf58_ENST00000397685.4_5'UTR|C21orf58_ENST00000397680.1_Intron|C21orf58_ENST00000397682.3_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 10 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) GCTTCCTGAGggaggttgcag 0.567000 12 4 0 0 0.000978 0 0 THSD7B 80731 broad.mit.edu 37 2 137748477 137748477 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:137748477G>A ENST00000413152.2 + 1 16 c.16G>A c.(16-18)Gat>Aat p.D6N THSD7B_ENST00000409968.1_Intron|THSD7B_ENST00000272643.3_Intron NM_001080427.1 NP_001073896.1 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) TAACACAGCAGATGAGGTGGT 0.393000 5 6 0 0 0.001984 0 0 ZNF70 7621 broad.mit.edu 37 22 24087233 24087233 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:24087233C>T ENST00000341976.3 - 2 555 c.95G>A c.(94-96)gGg>gAg p.G32E NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 32 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 AAAAGGGTCCCCCAGGTCCTC 0.493000 47 69 0 0 0.003610 0 0 BLNK 29760 broad.mit.edu 37 10 97983604 97983604 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:97983604G>A ENST00000224337.5 - 6 644 c.503C>T c.(502-504)cCc>cTc p.P168L BLNK_ENST00000371176.2_Missense_Mutation_p.P168L|BLNK_ENST00000413476.2_Missense_Mutation_p.P168L|BLNK_ENST00000427367.2_Missense_Mutation_p.P168L NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 168 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) GAGGCCTTTGGGTTTGGGTGG 0.592000 17 83 0 0 0.006122 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95108138 95108138 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:95108138G>A ENST00000469935.1 + 0 743 NR_015340.1 ACACATTGACGAATATACAGA 0.622000 54 126 0 0 0.003610 0 0 COL4A1 1282 broad.mit.edu 37 13 110829287 110829287 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:110829287C>T ENST00000375820.4 - 34 2935 c.2814G>A c.(2812-2814)atG>atA p.M938I NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 938 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCACCTTATCCATGGAGCCAG 0.587000 40 59 0 0 0.008740 0 0 PKD1 5310 broad.mit.edu 37 16 2162886 2162886 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:2162886G>A ENST00000262304.4 - 13 3272 c.3064C>T c.(3064-3066)Ctg>Ttg p.L1022L PKD1_ENST00000423118.1_Silent_p.L1022L|RP11-304L19.4_ENST00000568795.1_RNA NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1022 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GAGACCTGCAGACCCTGCATC 0.642000 11 31 0 0 0.000978 0 0 LIN28B 389421 broad.mit.edu 37 6 105526438 105526438 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:105526438G>A ENST00000345080.4 + 4 736 c.533G>A c.(532-534)gGa>gAa p.G178E NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 178 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) AGTTCTCAGGGAAGACAGGAA 0.547000 13 40 0 0 0.001368 0 0 LILRB1 10859 broad.mit.edu 37 19 55146718 55146718 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55146718C>A ENST00000396331.1 + 13 1925 c.1568C>A c.(1567-1569)cCa>cAa p.P523Q LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P523Q|LILRB1_ENST00000427581.2_Missense_Mutation_p.P573Q|LILRB1_ENST00000418536.2_Missense_Mutation_p.P507Q|LILRB1_ENST00000396327.3_Missense_Mutation_p.P524Q|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q498K|LILRB1_ENST00000396332.4_Missense_Mutation_p.P523Q|LILRB1_ENST00000324602.7_Missense_Mutation_p.P524Q|LILRB1_ENST00000434867.2_Missense_Mutation_p.P523Q|LILRB1_ENST00000396317.1_Missense_Mutation_p.P507Q|LILRB1_ENST00000396315.1_Missense_Mutation_p.P524Q NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 523 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGGTCCAGCCCAGCTGCCGAT 0.602000 HNSCC(37;0.09) 38 68 2.37825e-27 2.66481e-27 0.002522 1 0 ZNF577 84765 broad.mit.edu 37 19 52376906 52376906 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52376906C>T ENST00000301399.5 - 7 702 c.337G>A c.(337-339)Gga>Aga p.G113R ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron NM_032679.2 NP_116068.2 Q9BSK1 ZN577_HUMAN zinc finger protein 577 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTCCCATATCCACCAAATGCA 0.383000 19 43 0 0 0.007413 0 0 PLXNB2 23654 broad.mit.edu 37 22 50719197 50719197 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:50719197C>T ENST00000449103.1 - 24 4109 c.3969G>A c.(3967-3969)ctG>ctA p.L1323L PLXNB2_ENST00000359337.4_Silent_p.L1323L O15031 PLXB2_HUMAN plexin B2 1323 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) ACTTGCTGTTCAGCAGGTTGG 0.657000 12 18 0 0 0.001368 0 0 ZFR 51663 broad.mit.edu 37 5 32385617 32385617 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:32385617C>T ENST00000265069.8 - 15 2740 c.2638G>A c.(2638-2640)Gga>Aga p.G880R NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 880 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TTCCAACCTCCTTCCCTCATG 0.373000 33 78 0 0 0.003271 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18769194 18769194 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:18769194C>T ENST00000268835.2 + 3 331 c.48C>T c.(46-48)acC>acT p.T16T PRPSAP2_ENST00000419071.2_Silent_p.T16T|PRPSAP2_ENST00000536323.1_5'UTR|PRPSAP2_ENST00000542013.1_Silent_p.T16T NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 16 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 TGAACATAACCAAAGGTGGTC 0.348000 14 5 0 0 0.001855 0 0 GUCY2C 2984 broad.mit.edu 37 12 14809543 14809543 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:14809543C>T ENST00000261170.3 - 12 1509 c.1373G>A c.(1372-1374)aGa>aAa p.R458K NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 458 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 ATAATCTTTTCTATATTTTCT 0.368000 39 49 0 0 0.005524 0 0 DTNA 1837 broad.mit.edu 37 18 32398222 32398222 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:32398222G>A ENST00000283365.9 + 9 1155 c.804G>A c.(802-804)caG>caA p.Q268Q DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Silent_p.Q268Q|DTNA_ENST00000597599.1_Silent_p.Q268Q|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Silent_p.Q268Q|DTNA_ENST00000598774.1_Silent_p.Q268Q|DTNA_ENST00000598142.1_Silent_p.Q268Q|DTNA_ENST00000399121.5_Silent_p.Q268Q|DTNA_ENST00000315456.6_Silent_p.Q268Q|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000598334.1_Silent_p.Q268Q|DTNA_ENST00000399113.3_Silent_p.Q268Q|DTNA_ENST00000554864.3_Silent_p.Q268Q|DTNA_ENST00000444659.1_Silent_p.Q268Q|DTNA_ENST00000595022.1_Silent_p.Q268Q|DTNA_ENST00000269190.7_Silent_p.Q268Q NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 268 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 AGCTCTGTCAGGACTGCTTCT 0.507000 14 50 0 0 0.001855 0 0 NBEA 26960 broad.mit.edu 37 13 35883726 35883726 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:35883726G>A ENST00000400445.3 + 36 6434 c.5900G>A c.(5899-5901)gGa>gAa p.G1967E NBEA_ENST00000379939.2_Missense_Mutation_p.G1964E|NBEA_ENST00000540320.1_Missense_Mutation_p.G1967E|NBEA_ENST00000310336.4_Missense_Mutation_p.G1967E NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1967 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATCAATGAAGGAAGGTAATTA 0.348000 7 11 0 0 0.003080 0 0 POLR2B 5431 broad.mit.edu 37 4 57873037 57873037 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:57873037C>T ENST00000381227.1 + 11 1686 c.1273C>T c.(1273-1275)Cga>Tga p.R425* POLR2B_ENST00000441246.2_Nonsense_Mutation_p.R418*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.R425*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.R350* P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 425 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) ATTTATTGATCGAGGAAAGGA 0.343000 26 71 0 0 0.005443 0 0 BSDC1 55108 broad.mit.edu 37 1 32846866 32846866 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:32846866G>A ENST00000341071.7 - 5 423 c.412C>T c.(412-414)Cgc>Tgc p.R138C BSDC1_ENST00000446293.2_Missense_Mutation_p.R138C|BSDC1_ENST00000526031.1_Missense_Mutation_p.R26C|BSDC1_ENST00000449308.1_Missense_Mutation_p.R121C|BSDC1_ENST00000419121.2_Missense_Mutation_p.R65C|BSDC1_ENST00000455895.2_Missense_Mutation_p.R121C|BSDC1_ENST00000413080.1_Missense_Mutation_p.R121C Q9NW68 BSDC1_HUMAN BSD domain containing 1 121 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTATAGAGGCGAGCCTGTAAG 0.502000 7 21 0 0 0.003080 0 0 PTPRU 10076 broad.mit.edu 37 1 29585184 29585184 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:29585184G>A ENST00000323874.8 + 3 483 c.373G>A c.(373-375)Ggg>Agg p.G125R PTPRU_ENST00000345512.3_Missense_Mutation_p.G125R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G125R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G125R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G125R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G125R Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 125 MAM. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCGCGTTAATGGGGGCCCCCT 0.612000 36 112 0 0 0.003271 0 0 ZNF582 147948 broad.mit.edu 37 19 56895388 56895388 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56895388G>A ENST00000301310.4 - 5 1556 c.1398C>T c.(1396-1398)acC>acT p.T466T ZNF582_ENST00000586929.1_Silent_p.T466T NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 466 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) GAGGTTGAACGGTAGTTGAAT 0.363000 47 86 0 0 0.003610 0 0 BLM 641 broad.mit.edu 37 15 91292641 91292641 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:91292641C>T ENST00000355112.3 + 3 261 c.143C>T c.(142-144)tCt>tTt p.S48F BLM_ENST00000560509.1_Missense_Mutation_p.S48F NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 48 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AACAATGTATCTGTAACTAAT 0.333000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 149 274 0 0 0.003610 0 0 CBLB 868 broad.mit.edu 37 3 105397331 105397331 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:105397331G>A ENST00000264122.4 - 17 2834 c.2513C>T c.(2512-2514)cCt>cTt p.P838L CBLB_ENST00000407712.1_Missense_Mutation_p.P53L|CBLB_ENST00000394027.3_Missense_Mutation_p.P816L NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 838 Pro-rich. 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 GGAGCCAGGAGGTTTTGAATG 0.468000 Mis S AML 26 20 0 0 0.006320 0 0 TCL6 27004 broad.mit.edu 37 14 96131408 96131408 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:96131408G>A ENST00000467865.1 + 0 1816 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) TGGATGCATGGGGAAGGTGAG 0.567000 T TRA@ T-ALL 4 17 0 0 0.000602 0 0 RB1CC1 9821 broad.mit.edu 37 8 53555124 53555124 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:53555124C>T ENST00000025008.5 - 18 4647 c.4124G>A c.(4123-4125)cGa>cAa p.R1375Q RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1375Q|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1375Q NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1375 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAAACGAGCTCGATCTTCAGA 0.368000 21 34 0 0 0.008871 0 0 HTR3B 9177 broad.mit.edu 37 11 113816639 113816639 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:113816639G>A ENST00000260191.2 + 9 1363 c.1106G>A c.(1105-1107)gGa>gAa p.G369E HTR3B_ENST00000537778.1_Missense_Mutation_p.G358E NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 369 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TCGCTGTATGGAGAGCACCTG 0.552000 10 25 0 0 0.006214 0 0 FSCB 84075 broad.mit.edu 37 14 44975965 44975965 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:44975965C>T ENST00000340446.4 - 1 517 c.226G>A c.(226-228)Gac>Aac p.D76N NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 76 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) ACAATGGTGTCTGTCTGGAGA 0.413000 54 103 0 0 0.003610 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20505050 20505050 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:20505050C>T ENST00000202677.6 - 30 4042 c.3900_splice c.e30+1 p.R1300_splice NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1300 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GTAGACTCACCCTGTAGATAT 0.512000 13 23 0 0 0.001368 0 0 ATP2B1 490 broad.mit.edu 37 12 89992980 89992980 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:89992980C>T ENST00000428670.3 - 20 3721 c.3265G>A c.(3265-3267)Gat>Aat p.D1089N ATP2B1_ENST00000261173.2_Missense_Mutation_p.D1089N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.D1053N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.D1089N|ATP2B1_ENST00000393164.2_Missense_Mutation_p.D832N P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 1089 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TCTTCAACATCCTCTGCTAAT 0.438000 26 54 0 0 0.003954 0 0 VIM 7431 broad.mit.edu 37 10 17276783 17276783 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:17276783C>T ENST00000544301.1 + 6 1387 c.974C>T c.(973-975)tCc>tTc p.S325F VIM_ENST00000224237.5_Missense_Mutation_p.S325F|RP11-124N14.3_ENST00000456355.1_RNA NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 325 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGGTGCAGTCCCTCACCTGT 0.537000 9 58 0 0 0.006214 0 0 ZNF831 128611 broad.mit.edu 37 20 57766277 57766277 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:57766277C>T ENST00000371030.2 + 1 203 c.203C>T c.(202-204)cCc>cTc p.P68L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 68 Pro-rich. 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) ACGGTGCCTCCCGGGGGCCTC 0.701000 5 15 0 0 0.000602 0 0 FRMD8 83786 broad.mit.edu 37 11 65168246 65168246 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:65168246C>T ENST00000317568.5 + 9 1142 c.979C>T c.(979-981)Ccc>Tcc p.P327S FRMD8_ENST00000355991.5_Missense_Mutation_p.P271S|FRMD8_ENST00000416776.2_Missense_Mutation_p.P293S NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 327 FERM. cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 CCACACCTCCCCCGAGGAGGA 0.637000 25 20 0 0 0.003954 0 0 MACF1 23499 broad.mit.edu 37 1 39910422 39910422 + Missense_Mutation SNP C C G rs680728 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:39910422C>G ENST00000564288.1 + 80 20297 c.19520C>G c.(19519-19521)tCt>tGt p.S6507C MACF1_ENST00000361689.2_Missense_Mutation_p.S4448C|MACF1_ENST00000289893.4_Missense_Mutation_p.S4950C|MACF1_ENST00000539005.1_Missense_Mutation_p.S4318C|MACF1_ENST00000545844.1_Missense_Mutation_p.S4448C|MACF1_ENST00000372915.3_Missense_Mutation_p.S6406C|MACF1_ENST00000317713.7_Missense_Mutation_p.S4448C|MACF1_ENST00000567887.1_Missense_Mutation_p.S6544C Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6517 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) CGTGACGACTCTGGGTCTGGC 0.458000 26 45 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179484483 179484483 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179484483G>A ENST00000589042.1 - 250 46785 c.46561C>T c.(46561-46563)Cag>Tag p.Q15521* TTN_ENST00000359218.5_Nonsense_Mutation_p.Q6581*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q6648*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q13880*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q12953*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q6456* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13880 Fibronectin type-III 13. 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) TTATCACCCTGGACAACAACC 0.403000 76 108 0 0 0.003610 0 0 EVPL 2125 broad.mit.edu 37 17 74015007 74015007 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:74015007C>T ENST00000301607.3 - 11 1525 c.1272G>A c.(1270-1272)tgG>tgA p.W424* EVPL_ENST00000586740.1_Nonsense_Mutation_p.W424* NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 424 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 CTCCTGAGTCCCAGTCGCAGA 0.682000 23 29 0 0 0.002096 0 0 MYO3A 53904 broad.mit.edu 37 10 26241046 26241046 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:26241046C>T ENST00000265944.5 + 3 173 c.7C>T c.(7-9)Cca>Tca p.P3S MYO3A_ENST00000376302.1_Missense_Mutation_p.P3S|MYO3A_ENST00000543632.1_Missense_Mutation_p.P3S|MYO3A_ENST00000376301.1_Missense_Mutation_p.P3S NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 3 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGAGATGTTTCCATTAATTGG 0.353000 17 21 0 0 0.007413 0 0 SDPR 8436 broad.mit.edu 37 2 192701046 192701046 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:192701046G>A ENST00000304141.4 - 2 1210 c.881C>T c.(880-882)cCc>cTc p.P294L NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 294 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GAAAGTGAGGGGAGAAACCTT 0.468000 44 121 0 0 0.003610 0 0 MRPL45P2 653479 broad.mit.edu 37 17 45534160 45534160 + RNA SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:45534160C>G ENST00000575291.1 - 0 606 TGGGCCCAACCTAAAAATAAA 0.338000 7 15 0 0 0.001984 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442579 37442579 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:37442579G>A ENST00000374660.1 + 13 1718 c.1619G>A c.(1618-1620)gGa>gAa p.G540E ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G540E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G540E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 596 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAATAAATGGAAAATTAGAA 0.323000 13 179 0 0 0.001368 0 0 SYNE3 161176 broad.mit.edu 37 14 95912270 95912270 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:95912270G>A ENST00000334258.5 - 8 1622 c.1608C>T c.(1606-1608)ctC>ctT p.L536L SYNE3_ENST00000554873.1_Silent_p.L293L|SYNE3_ENST00000557275.1_Silent_p.L536L|SYNE3_ENST00000553340.1_Silent_p.L536L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 TCCTCTGCAGGAGGCTGTTAT 0.612000 25 53 0 0 0.003954 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777062 6777062 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:6777062C>T ENST00000486256.1 + 0 1189 NR_002217.1 GCAGCACTTCCGTGGATTCTG 0.622000 22 54 0 0 0.002780 0 0 ZNF568 374900 broad.mit.edu 37 19 37441389 37441389 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:37441389C>T ENST00000415168.1 + 5 1518 c.1142C>T c.(1141-1143)cCc>cTc p.P381L ZNF568_ENST00000333987.7_Missense_Mutation_p.P445L|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCTGAGAAACCCTATGAATGT 0.408000 37 52 0 0 0.005524 0 0 ASS1 445 broad.mit.edu 37 9 133346888 133346888 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:133346888C>T ENST00000372394.1 + 9 1064 c.583C>T c.(583-585)Ctg>Ttg p.L195L ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Silent_p.L195L|ASS1_ENST00000352480.5_Silent_p.L195L P00966 ASSY_HUMAN argininosuccinate synthase 1 195 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GGCTGGAATCCTGGAGAACCC 0.582000 19 14 0 0 0.001882 0 0 HBE1 3046 broad.mit.edu 37 11 5290736 5290736 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5290736T>C ENST00000380237.1 - 4 607 c.263A>G c.(262-264)aAg>aGg p.K88R HBE1_ENST00000292896.2_Missense_Mutation_p.K88R|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 88 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCACTCAGCTTAGCAAAGGC 0.478000 48 71 0 0 0.003610 0 0 CSF1R 1436 broad.mit.edu 37 5 149456941 149456941 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:149456941G>A ENST00000286301.3 - 6 1078 c.787C>T c.(787-789)Ctc>Ttc p.L263F CSF1R_ENST00000543093.1_Missense_Mutation_p.L263F NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 263 Ig-like C2-type 3. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TCGAGGTTGAGGGTCAGGACT 0.498000 39 53 0 0 0.002222 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891712 18891712 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 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 18 33 0 0 0.007413 0 0 MYO7B 4648 broad.mit.edu 37 2 128331608 128331608 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:128331608C>T ENST00000389524.4 + 7 759 c.706C>T c.(706-708)Ctc>Ttc p.L236F MYO7B_ENST00000428314.1_Missense_Mutation_p.L236F|MYO7B_ENST00000409816.2_Missense_Mutation_p.L236F Q6PIF6 MYO7B_HUMAN myosin VIIB 236 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CGAGCAATTTCTCCTGGAGAA 0.597000 30 118 0 0 0.008740 0 0 ERBB4 2066 broad.mit.edu 37 2 212248412 212248412 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:212248412G>A ENST00000342788.4 - 28 4165 c.3855C>T c.(3853-3855)ctC>ctT p.L1285L ERBB4_ENST00000402597.1_Silent_p.L1275L|ERBB4_ENST00000436443.1_Silent_p.L1269L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1285 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) AGAACTCAGAGAGGTATTCAG 0.502000 TSP Lung(8;0.080) 29 38 0 0 0.008361 0 0 DIO3 1735 broad.mit.edu 37 14 102028734 102028734 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:102028734C>T ENST00000510508.4 + 1 1047 c.901C>T c.(901-903)Ccc>Tcc p.P301S DIO3_ENST00000359323.3_Missense_Mutation_p.P275S P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 275 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CGGCGCTCGGCCCCGGAGGGT 0.602000 15 28 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9088356 9088356 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9088356G>A ENST00000397910.4 - 1 3662 c.3459C>T c.(3457-3459)atC>atT p.I1153I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1153 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 ATGAGGACAAGATGCCAAGCC 0.478000 37 65 0 0 0.003271 0 0 SLC3A1 6519 broad.mit.edu 37 2 44508527 44508527 + Splice_Site SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:44508527T>C ENST00000260649.6 + 3 688 c.610_splice c.e3-1 p.G204_splice SLC3A1_ENST00000409229.3_Splice_Site_p.G204_splice|SLC3A1_ENST00000409387.1_Splice_Site_p.G204_splice|SLC3A1_ENST00000410056.3_Splice_Site_p.G204_splice|SLC3A1_ENST00000409741.1_Splice_Site_p.G204_splice NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 204 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) ACTCATTAGGTTTAAAATTAA 0.348000 18 16 0 0 0.008871 0 0 WNK4 65266 broad.mit.edu 37 17 40936554 40936554 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:40936554C>T ENST00000246914.5 + 4 1148 c.1127C>T c.(1126-1128)tCc>tTc p.S376F NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 376 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TACCCGTACTCCGAGTGCCAG 0.592000 10 32 0 0 0.008291 0 0 ST18 9705 broad.mit.edu 37 8 53062531 53062531 + Missense_Mutation SNP C C T rs144486751 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:53062531C>T ENST00000276480.7 - 16 2496 c.1813G>A c.(1813-1815)Gaa>Aaa p.E605K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 605 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACTTCTATTTCGGCTCCCTGG 0.398000 25 67 0 0 0.003954 0 0 SNX19 399979 broad.mit.edu 37 11 130785160 130785160 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:130785160G>A ENST00000265909.4 - 1 1244 c.675C>T c.(673-675)ccC>ccT p.P225P SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Silent_p.P225P NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 225 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) AGTGGGGCTTGGGCACCAGCC 0.557000 18 14 0 0 0.007413 0 0 PIANP 196500 broad.mit.edu 37 12 6806600 6806600 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:6806600C>T ENST00000534837.1 - 3 605 c.376G>A c.(376-378)Gga>Aga p.G126R PIANP_ENST00000540656.1_Missense_Mutation_p.G126R|PIANP_ENST00000320591.5_Missense_Mutation_p.G126R NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein TCCAGAAATCCGGGATTGGCA 0.597000 22 43 0 0 0.006320 0 0 EPS15L1 58513 broad.mit.edu 37 19 16496019 16496019 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:16496019G>A ENST00000455140.2 - 21 2234 c.2168C>T c.(2167-2169)cCc>cTc p.P723L EPS15L1_ENST00000594975.1_Missense_Mutation_p.P725L|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P723L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P723L NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 723 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GGTTCCAAAGGGATCTGCAAT 0.527000 51 85 0 0 0.003610 0 0 ZIM2 23619 broad.mit.edu 37 19 57286126 57286126 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57286126C>T ENST00000391708.3 - 12 2056 c.1514G>A c.(1513-1515)cGa>cAa p.R505Q AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R505Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.R505Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R505Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R505Q|AC006115.3_ENST00000594400.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GTATGAGGGTCGGCCGAAACA 0.438000 20 44 0 0 0.008871 0 0 STAM 8027 broad.mit.edu 37 10 17726680 17726680 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:17726680G>A ENST00000377524.3 + 3 347 c.132G>A c.(130-132)aaG>aaA p.K44K STAM_ENST00000540523.1_Intron NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 44 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TTAGACCTAAGGATTGTCTTC 0.373000 16 42 0 0 0.007413 0 0 SEPT11 55752 broad.mit.edu 37 4 77949800 77949800 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:77949800A>G ENST00000264893.6 + 8 1173 c.972A>G c.(970-972)gaA>gaG p.E324E SEPT11_ENST00000541121.1_Silent_p.E334E|SEPT11_ENST00000505788.1_Silent_p.E324E|SEPT11_ENST00000502584.1_Silent_p.E324E|SEPT11_ENST00000510515.1_Silent_p.E334E|SEPT11_ENST00000512575.1_3'UTR NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 324 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 AGACATATGAAGCAAAAAGGA 0.348000 38 60 0 0 0.005524 0 0 FOXR1 283150 broad.mit.edu 37 11 118851203 118851203 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:118851203G>A ENST00000317011.3 + 5 840 c.615G>A c.(613-615)aaG>aaA p.K205K NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 205 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) TCCATAGAAAGCACTTCCCCT 0.542000 35 27 0 0 0.002836 0 0 CRLF2 64109 broad.mit.edu 37 X 1321287 1321287 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:1321287G>A ENST00000381567.3 - 4 467 c.468C>T c.(466-468)ttC>ttT p.F156F CRLF2_ENST00000381566.1_Silent_p.F156F|CRLF2_ENST00000467626.1_5'UTR NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 156 Fibronectin type-III. 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) ACTCGGTGTCGAAGGGGCTCC 0.617000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 22 30 0 0 0.002780 0 0 DSG3 1830 broad.mit.edu 37 18 29044213 29044213 + Missense_Mutation SNP G G A rs146025709 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29044213G>A ENST00000257189.4 + 9 1222 c.1139G>A c.(1138-1140)gGa>gAa p.G380E NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 380 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.G380E(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) GTAAGAGAAGGAATTGCATTC 0.388000 24 28 0 0 0.002780 0 0 SSTR3 6753 broad.mit.edu 37 22 37603034 37603034 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:37603034C>T ENST00000328544.3 - 2 1342 c.809G>A c.(808-810)tGg>tAg p.W270* SSTR3_ENST00000402501.1_Nonsense_Mutation_p.W270* NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 270 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GAAGGGCATCCAGCAGAGCAC 0.677000 19 55 0 0 0.002780 0 0 MYBPC2 4606 broad.mit.edu 37 19 50961874 50961874 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:50961874C>T ENST00000357701.5 + 21 2420 c.2369C>T c.(2368-2370)cCc>cTc p.P790L NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 790 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) AACACCGAGCCCGTGGAGCGC 0.667000 7 22 0 0 0.006214 0 0 TRANK1 9881 broad.mit.edu 37 3 36875022 36875022 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:36875022C>T ENST00000301807.6 - 21 6167 c.4270G>A c.(4270-4272)Gat>Aat p.D1424N TRANK1_ENST00000428977.2_Missense_Mutation_p.D1424N|TRANK1_ENST00000429976.2_Missense_Mutation_p.D1974N NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1974 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 TAGCAGATATCAAGTGCTTCT 0.542000 12 29 0 0 0.002450 0 0 FAM83E 54854 broad.mit.edu 37 19 49104393 49104393 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:49104393G>A ENST00000263266.3 - 5 1599 c.1410C>T c.(1408-1410)ccC>ccT p.P470P NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 470 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GTCCTGCCCGGGGGGCCCAGT 0.647000 12 43 0 0 0.001368 0 0 TMEM117 84216 broad.mit.edu 37 12 44770492 44770492 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:44770492C>T ENST00000266534.3 + 7 1010 c.883C>T c.(883-885)Cgt>Tgt p.R295C TMEM117_ENST00000536799.1_Missense_Mutation_p.R191C|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_Intron NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 295 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) GGAGGAATATCGTATTCACAT 0.368000 31 43 0 0 0.002096 0 0 ACSM5 54988 broad.mit.edu 37 16 20451131 20451131 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:20451131G>A ENST00000331849.4 + 13 1693 c.1546G>A c.(1546-1548)Gca>Aca p.A516T NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 516 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 GGTGGTAAAGGCATTTATAGT 0.448000 8 83 0 0 0.006214 0 0 TDRD10 126668 broad.mit.edu 37 1 154517326 154517326 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:154517326G>A ENST00000368482.4 + 11 1691 c.853G>A c.(853-855)Gga>Aga p.G285R TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.G285R NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 285 Tudor. nucleotide binding|RNA binding p.G285*(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CATTGATTTTGGACAGTTGGC 0.552000 18 45 0 0 0.007413 0 0 ADCY1 107 broad.mit.edu 37 7 45750231 45750231 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:45750231G>A ENST00000297323.7 + 19 3059 c.3037G>A c.(3037-3039)Ggg>Agg p.G1013R NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 1013 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GGATAGCACAGGGGTCCAGGG 0.577000 17 22 0 0 0.004990 0 0 OR5AS1 219447 broad.mit.edu 37 11 55797987 55797987 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55797987C>T ENST00000313555.1 + 1 93 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TCTTGGTATTCCTTCTGGTAT 0.328000 6 37 0 0 0.001984 0 0 AOC4P 90586 broad.mit.edu 37 17 41019657 41019657 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:41019657G>A ENST00000585538.1 + 0 496 NR_002773.1 CCACCTGCCCGGGAGGCACTG 0.662000 24 23 0 0 0.003954 0 0 CCDC147 159686 broad.mit.edu 37 10 106160609 106160609 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:106160609C>T ENST00000369704.3 + 13 2121 c.1987C>T c.(1987-1989)Cgc>Tgc p.R663C NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 663 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) CAAGAAGCTTCGCCGGGAAAA 0.478000 17 43 0 0 0.006122 0 0 TRIM11 81559 broad.mit.edu 37 1 228582615 228582615 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228582615G>A ENST00000493030.2 - 5 4532 c.823C>T c.(823-825)Cca>Tca p.P275S TRIM11_ENST00000284551.6_Missense_Mutation_p.P400S|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR Q96F44 TRI11_HUMAN tripartite motif containing 11 400 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) CGCCTGGGTGGGTCCCGGAGT 0.597000 24 47 0 0 0.003954 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815257 106815257 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:106815257C>T ENST00000407775.2 + 8 3197 c.2947C>T c.(2947-2949)Cca>Tca p.P983S RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P851S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P851S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P714S NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 983 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) CCAGCTTTCTCCATATTATGG 0.388000 8 9 0 0 0.004482 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55048129 55048129 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55048129C>T ENST00000335056.3 + 5 734 c.696C>T c.(694-696)ccC>ccT p.P232P KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) AGGTGGACCCCATGATGAGGC 0.478000 OREG0003665 type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 36 0 0 0.006122 0 0 HERC1 8925 broad.mit.edu 37 15 63904509 63904509 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:63904509G>A ENST00000443617.2 - 77 14428 c.14341C>T c.(14341-14343)Cga>Tga p.R4781* NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4781 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCTGGTAGTCGAGATCTTCCT 0.458000 17 21 0 0 0.004990 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004776 75004776 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:75004776G>A ENST00000373359.2 - 1 303 c.111C>T c.(109-111)tcC>tcT p.S37S NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 37 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGACTAGCATGGAGGTGGGGG 0.582000 33 10 0 0 0.004289 0 0 PRG4 10216 broad.mit.edu 37 1 186276693 186276693 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:186276693G>A ENST00000445192.2 + 7 1887 c.1842G>A c.(1840-1842)aaG>aaA p.K614K PRG4_ENST00000367486.3_Silent_p.K571K|PRG4_ENST00000367485.4_Silent_p.K521K|PRG4_ENST00000367483.4_Silent_p.K573K|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 614 59 X 8 AA repeats of K-X-P-X-P-T-T-X. 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 CTACCCCCAAGGAGACTGCAC 0.662000 6 11 0 0 0.006214 0 0 CYP27C1 339761 broad.mit.edu 37 2 127951373 127951373 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:127951373G>A ENST00000335247.7 - 6 920 c.790C>T c.(790-792)Ccg>Tcg p.P264S CYP27C1_ENST00000409327.1_Missense_Mutation_p.P264S NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 264 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) ACGCCTTTCGGAATCAGATAC 0.587000 24 30 0 0 0.002299 0 0 SAMHD1 25939 broad.mit.edu 37 20 35526902 35526902 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:35526902G>A ENST00000262878.4 - 14 1748 c.1549C>T c.(1549-1551)Cat>Tat p.H517Y NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 517 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) AAGCTAACATGATCAATTGGA 0.353000 36 81 0 0 0.006999 0 0 GK2 2712 broad.mit.edu 37 4 80328028 80328028 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:80328028G>A ENST00000358842.3 - 1 1344 c.1327C>T c.(1327-1329)Cat>Tat p.H443Y NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 443 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 ACTGGAATATGAAGAATATCT 0.468000 41 55 0 0 0.007835 0 0 RBM12 10137 broad.mit.edu 37 20 34242055 34242055 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:34242055G>A ENST00000374114.3 - 3 1453 c.1190C>T c.(1189-1191)cCt>cTt p.P397L RBM12_ENST00000374104.3_Missense_Mutation_p.P397L|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P397L|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 397 nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TTGTCCAGAAGGTCCCATATT 0.483000 OREG0004044 type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 45 85 0 0 0.002222 0 0 CAPSL 133690 broad.mit.edu 37 5 35910596 35910596 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:35910596C>T ENST00000397367.2 - 3 313 c.187G>A c.(187-189)Gaa>Aaa p.E63K CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K|CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 63 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TTCATAAATTCTTTAAAATCA 0.323000 19 51 0 0 0.001882 0 0 CYP27C1 339761 broad.mit.edu 37 2 127951372 127951372 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:127951372G>A ENST00000335247.7 - 6 921 c.791C>T c.(790-792)cCg>cTg p.P264L CYP27C1_ENST00000409327.1_Missense_Mutation_p.P264L NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 264 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) CACGCCTTTCGGAATCAGATA 0.587000 24 31 0 0 0.002299 0 0 EFEMP2 30008 broad.mit.edu 37 11 65637595 65637595 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:65637595C>G ENST00000307998.6 - 6 834 c.604G>C c.(604-606)Gtt>Ctt p.V202L EFEMP2_ENST00000528176.1_Missense_Mutation_p.V202L NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 202 EGF-like 3; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) GCCTCACCAACACAGGAGCGG 0.682000 15 32 0 0 0.002450 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21069058 21069058 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:21069058A>C ENST00000381545.3 + 16 2205 c.1986A>C c.(1984-1986)gaA>gaC p.E662D SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E662D|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 662 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CGGACAATGAAAGAAAAGTAA 0.313000 14 28 0 0 0.003163 0 0 PRAMEF19 645414 broad.mit.edu 37 1 13695885 13695885 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:13695885C>T ENST00000540591.1 - 3 1126 c.1080G>A c.(1078-1080)ggG>ggA p.G360G PRAMEF19_ENST00000376101.2_Silent_p.G291G NM_001099790.1 NP_001093260.2 PRAME family member 19 lung(3) 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;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) AGTACCCAATCCCACAGTCCA 0.552000 145 491 0 0 0.003610 0 0 ZCCHC18 644353 broad.mit.edu 37 X 103359106 103359106 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:103359106C>T ENST00000537356.2 + 1 304 c.304C>T c.(304-306)Cag>Tag p.Q102* SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron NM_001143978.1 NP_001137450.1 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 102 nucleic acid binding|zinc ion binding GCGTTTGCTTCAGGCGGCCAA 0.502000 18 10 0 0 0.006122 0 0 DIAPH1 1729 broad.mit.edu 37 5 140896446 140896446 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140896446G>A ENST00000253811.6 - 28 3934 c.3794C>T c.(3793-3795)gCc>gTc p.A1265V DIAPH1_ENST00000389054.3_Missense_Mutation_p.A1261V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A1256V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A1240V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A1264V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A1255V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A1252V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A1207V O60610 DIAP1_HUMAN diaphanous-related formin 1 1264 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) CAACTCCTTGGCTTCCTCAAG 0.577000 20 28 0 0 0.002299 0 0 HECW1 23072 broad.mit.edu 37 7 43580801 43580801 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:43580801C>T ENST00000395891.1 + 25 4664 c.4059C>T c.(4057-4059)atC>atT p.I1353I HECW1_ENST00000453890.1_Silent_p.I1319I NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1353 HECT. 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 TGGCTCTGATCCATCAGTACC 0.478000 32 73 0 0 0.004878 0 0 GALNT7 51809 broad.mit.edu 37 4 174225180 174225180 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:174225180C>T ENST00000265000.4 + 8 1383 c.1300C>T c.(1300-1302)Cct>Tct p.P434S NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 434 Catalytic subdomain B. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) ATTATTTGTTCCTTGTTCTCG 0.383000 40 78 0 0 0.006999 0 0 MMRN1 22915 broad.mit.edu 37 4 90816609 90816609 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:90816609G>A ENST00000394980.1 + 2 806 c.487G>A c.(487-489)Gga>Aga p.G163R MMRN1_ENST00000264790.2_Missense_Mutation_p.G163R|MMRN1_ENST00000394981.1_Missense_Mutation_p.G129R Q13201 MMRN1_HUMAN multimerin 1 163 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) tggaggcactggaggcattgg 0.502000 22 46 0 0 0.002299 0 0 CREB5 9586 broad.mit.edu 37 7 28858881 28858881 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:28858881G>A ENST00000357727.2 + 11 1902 c.1512G>A c.(1510-1512)ctG>ctA p.L504L CREB5_ENST00000396298.2_Silent_p.L365L|CREB5_ENST00000409603.1_Silent_p.L471L|CREB5_ENST00000396299.2_Silent_p.L471L|CREB5_ENST00000396300.2_Silent_p.L497L NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 504 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GAACAGACCTGAATCCGATTC 0.473000 183 281 0 0 0.003610 0 0 APPL2 55198 broad.mit.edu 37 12 105600949 105600949 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:105600949G>C ENST00000258530.3 - 8 736 c.511C>G c.(511-513)Cgg>Ggg p.R171G APPL2_ENST00000539978.2_Missense_Mutation_p.R128G|APPL2_ENST00000551662.1_Missense_Mutation_p.R177G|APPL2_ENST00000549573.1_5'UTR NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 171 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGCTTCCGCCGGGCCGCGGCC 0.517000 25 46 0 0 0.005443 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417886 150417886 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150417886G>A ENST00000307194.5 + 3 934 c.794G>A c.(793-795)tGg>tAg p.W265* NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCGGCTGTGGAAGTGGCTG 0.746000 5 11 0 0 0.000602 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956467 143956467 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:143956467C>A ENST00000292427.4 - 8 1336 c.1304G>T c.(1303-1305)gGc>gTc p.G435V CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506V|CYP11B1_ENST00000517471.1_Intron NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 435 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GAAGTTCCTGCCGGAGCCCCT 0.637000 Familial Hyperaldosteronism type I 67 59 3.94896e-32 4.43011e-32 0.003610 1 0 FMO3 2328 broad.mit.edu 37 1 171079947 171079947 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:171079947C>T ENST00000367755.4 + 6 747 c.636C>T c.(634-636)atC>atT p.I212I FMO3_ENST00000538429.1_Silent_p.I149I|FMO3_ENST00000542847.1_Silent_p.I192I|FMO3_ENST00000392085.2_Silent_p.I212I NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 212 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) AGGTCATGATCAGTTCCAGAA 0.468000 27 110 0 0 0.006320 0 0 EPHA1 2041 broad.mit.edu 37 7 143097142 143097142 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:143097142G>A ENST00000275815.3 - 4 523 c.437C>T c.(436-438)aCc>aTc p.T146I NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 146 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AGCCACCGTGGTTACCTGGGT 0.542000 17 26 0 0 0.007413 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405782 106405782 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:106405782C>T ENST00000390593.2 - 0 243 CAAGGCCTCTCGATGGGGACT 0.517000 31 74 0 0 0.002096 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806209 97806209 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:97806209C>T ENST00000358642.2 + 1 193 c.193C>T c.(193-195)Ctt>Ttt p.L65F NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 GTACTTATTCCTTGGTGGTTT 0.433000 6 153 0 0 0.001984 0 0 SLC4A3 6508 broad.mit.edu 37 2 220498006 220498006 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:220498006G>A ENST00000358055.3 + 10 1800 c.1288G>A c.(1288-1290)Gat>Aat p.D430N SLC4A3_ENST00000373760.2_Missense_Mutation_p.D430N|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D457N|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D430N|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D457N P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 430 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity p.D457N(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCATCCCAACGATGACAAGGA 0.582000 17 61 0 0 0.001523 0 0 WDR7 23335 broad.mit.edu 37 18 54339790 54339790 + Missense_Mutation SNP G G A rs143281590 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:54339790G>A ENST00000254442.3 + 2 255 c.44G>A c.(43-45)cGa>cAa p.R15Q WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R15Q NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 15 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) CTTTGGGGTCGAAAAGCGCCC 0.413000 21 21 0 0 0.005443 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526549 173526549 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:173526549C>T ENST00000367714.3 - 10 1567 c.1145G>A c.(1144-1146)gGa>gAa p.G382E SLC9C2_ENST00000536496.1_Missense_Mutation_p.G280E|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 382 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATTAAAAACTCCTTTAATTCC 0.363000 71 114 0 0 0.003610 0 0 XIRP2 129446 broad.mit.edu 37 2 168101571 168101571 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:168101571C>T ENST00000409195.1 + 9 3758 c.3669C>T c.(3667-3669)atC>atT p.I1223I XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I1001I|XIRP2_ENST00000295237.9_Silent_p.I1223I|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1048 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 TGAAAAAGATCAAAACCTTAA 0.318000 14 18 0 0 0.002450 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187934 37187934 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:37187934C>T ENST00000425901.2 + 0 1776 NR_033753.2 CCTTTTCCAACCATGCAGAAG 0.488000 8 26 0 0 0.003080 0 0 NLRP7 199713 broad.mit.edu 37 19 55447713 55447713 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55447713G>T ENST00000588756.1 - 8 2702 c.2216C>A c.(2215-2217)gCa>gAa p.A739E NLRP7_ENST00000328092.5_Missense_Mutation_p.A711E|NLRP7_ENST00000592784.1_Missense_Mutation_p.A739E|NLRP7_ENST00000590030.1_Missense_Mutation_p.A739E|NLRP7_ENST00000448121.2_Missense_Mutation_p.A711E|NLRP7_ENST00000446217.1_Missense_Mutation_p.A767E|NLRP7_ENST00000340844.2_Missense_Mutation_p.A739E Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 739 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GATGTGCCCTGCCAGGGTCAG 0.537000 33 43 1.99505e-19 2.23142e-19 0.002445 1 0 DNAH7 56171 broad.mit.edu 37 2 196822162 196822162 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:196822162C>T ENST00000312428.6 - 19 3001 c.2901G>A c.(2899-2901)gaG>gaA p.E967E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 967 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 GGAGCTTGCCCTCCCATTCTC 0.453000 4 16 0 0 0.000602 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 140666 140666 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140666C>T ENST00000283426.6 + 1 294 c.244C>T c.(244-246)Cgg>Tgg p.R82W NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 82 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGGAGATCTCGGTCCTGGGA 0.672000 3 7 0 0 0.004672 0 0 SALL3 27164 broad.mit.edu 37 18 76752328 76752328 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:76752328G>A ENST00000575389.2 + 2 337 c.337G>A c.(337-339)Gag>Aag p.E113K SALL3_ENST00000537592.2_Missense_Mutation_p.E113K|SALL3_ENST00000536229.3_5'UTR Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 113 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) CGAGGCGGCCGAGGAGGCGGG 0.791000 4 1 0 0 0.000602 0 0 SLC6A17 388662 broad.mit.edu 37 1 110737277 110737277 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:110737277C>T ENST00000331565.4 + 9 1861 c.1376C>T c.(1375-1377)tCc>tTc p.S459F SLC6A17_ENST00000465159.1_3'UTR NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 459 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CCGTTCTGGTCCGTCATGTTC 0.612000 18 23 0 0 0.008871 0 0 PSD 5662 broad.mit.edu 37 10 104173563 104173563 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:104173563C>T ENST00000020673.5 - 5 2042 c.1516G>A c.(1516-1518)Gag>Aag p.E506K PSD_ENST00000406432.1_Missense_Mutation_p.E506K NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 506 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) AGGCTGTCCTCTGAGTGGCAG 0.622000 21 24 0 0 0.002299 0 0 LGI2 55203 broad.mit.edu 37 4 25019647 25019647 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:25019647C>T ENST00000382114.4 - 6 804 c.619G>A c.(619-621)Gac>Aac p.D207N NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 207 LRRCT. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CTGGTCACGTCATTTAGCTTC 0.408000 52 85 0 0 0.003610 0 0 SLIT2 9353 broad.mit.edu 37 4 20611720 20611720 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:20611720G>A ENST00000504154.1 + 34 4029 c.3777G>A c.(3775-3777)ggG>ggA p.G1259G SLIT2_ENST00000273739.5_Silent_p.G1272G|SLIT2_ENST00000503823.1_Silent_p.G1251G|SLIT2_ENST00000503837.1_Silent_p.G1255G NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1259 Laminin G-like. 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 TGGATGGTGGGAACCCCAAAA 0.438000 24 50 0 0 0.002780 0 0 DNAH3 55567 broad.mit.edu 37 16 21011568 21011568 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:21011568C>T ENST00000261383.3 - 43 6398 c.6399G>A c.(6397-6399)ggG>ggA p.G2133G DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2133 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CTGCTTTCTTCCCTATGGGAG 0.517000 26 32 0 0 0.007291 0 0 HECTD4 283450 broad.mit.edu 37 12 112622317 112622317 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:112622317C>T ENST00000550722.1 - 61 10410 c.10015G>A c.(10015-10017)Gcc>Acc p.A3339T HECTD4_ENST00000430131.2_Missense_Mutation_p.A3063T|HECTD4_ENST00000377560.5_Missense_Mutation_p.A3313T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.A3313P(1)|p.A3063P(1) GAGGCGGAGGCGCTGATGCTC 0.662000 7 14 0 0 0.003080 0 0 TBC1D15 64786 broad.mit.edu 37 12 72314523 72314523 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:72314523G>A ENST00000550746.1 + 16 1727 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K TBC1D15_ENST00000393309.3_Missense_Mutation_p.E309K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.E546K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.E538K NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 555 Rab-GAP TBC. 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 AATGTGGACCGAACTACCATG 0.343000 54 124 0 0 0.003610 0 0 ZNF492 57615 broad.mit.edu 37 19 22847931 22847931 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22847931A>C ENST00000456783.2 + 4 1704 c.1460A>C c.(1459-1461)aAc>aCc p.N487T NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AAAGCCTTTAACAACTCCTCT 0.378000 15 26 0 0 0.004007 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750458 140750458 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140750458C>T ENST00000576222.1 + 1 628 c.497C>T c.(496-498)tCg>tTg p.S166L PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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) GGTGTCAATTCGCTGCAGCAG 0.502000 48 186 0 0 0.003610 0 0 FRAS1 80144 broad.mit.edu 37 4 79308708 79308708 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:79308708C>T ENST00000264895.6 + 29 4268 c.3828C>T c.(3826-3828)atC>atT p.I1276I FRAS1_ENST00000325942.6_Silent_p.I1276I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1275 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 CAACCCCTATCTATCAATTCC 0.488000 18 24 0 0 0.007413 0 0 KCNIP1 30820 broad.mit.edu 37 5 170148787 170148787 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:170148787C>T ENST00000434108.1 + 4 282 c.282C>T c.(280-282)ccC>ccT p.P94P KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000411494.1_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 96 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGGTTCTCCCTGTGTGGAAT 0.517000 31 49 0 0 0.002096 0 0 CCR5 1234 broad.mit.edu 37 3 46414449 46414449 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:46414449C>G ENST00000343801.4 + 3 413 c.56C>G c.(55-57)cCc>cGc p.P19R CCR5_ENST00000292303.4_Missense_Mutation_p.P19R|CCR5_ENST00000445772.1_Missense_Mutation_p.P19R|RP11-24F11.2_ENST00000451485.1_RNA NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 19 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) ACATCGGAGCCCTGCCAAAAA 0.423000 83 128 0 0 0.003610 0 0 CC2D2A 57545 broad.mit.edu 37 4 15538613 15538613 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:15538613T>C ENST00000424120.1 + 15 1932 c.1678T>C c.(1678-1680)Tta>Cta p.L560L CC2D2A_ENST00000503292.1_Silent_p.L560L|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Silent_p.L511L|CC2D2A_ENST00000413206.1_Silent_p.L560L Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 560 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 AAGTGAACTGTTAGAAGAGCA 0.408000 16 33 0 0 0.003163 0 0 DST 667 broad.mit.edu 37 6 56495132 56495132 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:56495132G>A ENST00000370754.5 - 30 4092 c.4093C>T c.(4093-4095)Ctc>Ttc p.L1365F DST_ENST00000421834.2_Missense_Mutation_p.L1187F|DST_ENST00000370765.6_Missense_Mutation_p.L861F|DST_ENST00000446842.2_Missense_Mutation_p.L861F|DST_ENST00000312431.6_Missense_Mutation_p.L1187F|DST_ENST00000370788.2_Missense_Mutation_p.L1187F|DST_ENST00000244364.6_Missense_Mutation_p.L861F|DST_ENST00000518935.1_Missense_Mutation_p.L861F|DST_ENST00000361203.3_Missense_Mutation_p.L1187F|DST_ENST00000370769.4_Missense_Mutation_p.L1187F Q03001 DYST_HUMAN dystonin 1187 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) AGTTTTACGAGGGCTTCTGCA 0.318000 22 62 0 0 0.001882 0 0 STK33 65975 broad.mit.edu 37 11 8486369 8486369 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:8486369C>T ENST00000447869.1 - 3 1258 c.339_splice c.e3-1 p.E114_splice STK33_ENST00000534493.1_Splice_Site_p.E73_splice|STK33_ENST00000396673.1_Splice_Site_p.E114_splice|STK33_ENST00000396672.1_Splice_Site_p.E114_splice|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Splice_Site_p.E114_splice Q9BYT3 STK33_HUMAN serine/threonine kinase 33 114 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GTATAGATTTCCTGGAGAAAA 0.353000 30 35 0 0 0.001786 0 0 NLE1 54475 broad.mit.edu 37 17 33464139 33464139 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:33464139G>A ENST00000442241.4 - 7 748 c.709C>T c.(709-711)Cgc>Tgc p.R237C NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.R195C|NLE1_ENST00000586869.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 237 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) CGCTCACAGCGGCCTGCAGTT 0.627000 31 33 0 0 0.001786 0 0 MFSD4 148808 broad.mit.edu 37 1 205548947 205548947 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:205548947C>T ENST00000367147.4 + 2 392 c.299C>T c.(298-300)cCc>cTc p.P100L MFSD4_ENST00000536357.1_Missense_Mutation_p.P100L|MFSD4_ENST00000539267.1_Missense_Mutation_p.P100L NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 100 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCCGTCATCCCCTTCTGCCGC 0.632000 40 68 0 0 0.002522 0 0 OR9A4 130075 broad.mit.edu 37 7 141618750 141618750 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:141618750C>T ENST00000548136.1 + 1 134 c.75C>T c.(73-75)atC>atT p.I25I MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 25 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) TACATCATATCCTTTTTGCTA 0.398000 58 144 0 0 0.003610 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050393 42050393 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:42050393C>T ENST00000372584.1 - 3 1090 c.76G>A c.(76-78)Gcc>Acc p.A26T HIVEP3_ENST00000247584.5_Missense_Mutation_p.A26T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A26T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A26T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 26 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) GTCTGAATGGCCTCTCCTTTG 0.582000 31 192 0 0 0.001786 0 0 DCHS1 8642 broad.mit.edu 37 11 6655412 6655412 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6655412G>A ENST00000299441.3 - 3 2334 c.1923C>T c.(1921-1923)acC>acT p.T641T RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 641 Cadherin 6. 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) CCAGGGTCCGGGTTGTGCACA 0.592000 35 69 0 0 0.003271 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698331 70698331 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:70698331G>A ENST00000338779.6 - 15 1767 c.1493C>T c.(1492-1494)tCc>tTc p.S498F FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 498 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 CCCATTCACGGAGTAGCAGTC 0.672000 3 11 0 0 0.004672 0 0 DNAJC30 84277 broad.mit.edu 37 7 73097144 73097144 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:73097144C>T ENST00000395176.2 - 1 639 c.610G>A c.(610-612)Gag>Aag p.E204K NM_032317.2 NP_115693.2 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 30 204 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1) 4 CGGGTATCCTCCCAGCGGAGG 0.572000 33 76 0 0 0.003755 0 0 ZNF226 7769 broad.mit.edu 37 19 44681340 44681340 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:44681340C>T ENST00000590089.1 + 7 2292 c.1925C>T c.(1924-1926)cCa>cTa p.P642L ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.P642L|ZNF226_ENST00000454662.2_Missense_Mutation_p.P642L Q9NYT6 ZN226_HUMAN zinc finger protein 226 642 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GGAGAAAAACCATTCAAATGT 0.458000 29 45 0 0 0.003271 0 0 SMARCA4 6597 broad.mit.edu 37 19 11100040 11100040 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:11100040C>T ENST00000358026.2 + 7 1450 c.1166C>T c.(1165-1167)cCc>cTc p.P389L SMARCA4_ENST00000450717.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P389L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P389L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P389L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P389L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 389 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GAAAACCTTCCCGGGTCCCTG 0.617000 """F, N, Mis""" NSCLC 46 84 0 0 0.002852 0 0 BACH1 571 broad.mit.edu 37 21 30698863 30698863 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:30698863C>T ENST00000399921.1 + 3 961 c.718C>T c.(718-720)Cgt>Tgt p.R240C BACH1_ENST00000286800.3_Missense_Mutation_p.R240C NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 240 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TGACAGAGTCCGTACTGGGGA 0.443000 30 21 0 0 0.006320 0 0 PDE6A 5145 broad.mit.edu 37 5 149276015 149276015 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:149276015G>A ENST00000255266.5 - 12 1643 c.1524C>T c.(1522-1524)ttC>ttT p.F508F NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 508 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GTAAGTCACTGAAGTGAAATT 0.393000 15 41 0 0 0.002450 0 0 SLC5A12 159963 broad.mit.edu 37 11 26734223 26734223 + Missense_Mutation SNP G G A rs145373937 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:26734223G>A ENST00000396005.3 - 2 679 c.370C>T c.(370-372)Cgc>Tgc p.R124C SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124C NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 124 sodium ion transport apical plasma membrane|integral to membrane symporter activity p.R124C(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GCAGCATAGCGAACTGGTTTG 0.398000 92 127 0 0 0.003610 0 0 SLC27A6 28965 broad.mit.edu 37 5 128351643 128351643 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:128351643G>A ENST00000262462.4 + 5 2045 c.1035G>A c.(1033-1035)tgG>tgA p.W345* SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.W345*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.W345* Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 345 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GTGATGTATGGAGAGAATTTT 0.368000 18 64 0 0 0.006122 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042330 75042330 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:75042330C>T ENST00000343932.4 + 2 314 c.251C>T c.(250-252)cCc>cTc p.P84L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 84 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GGCTCCACGCCCGTGCTGGTG 0.667000 24 21 0 0 0.003330 0 0 C10orf2 56652 broad.mit.edu 37 10 102748999 102748999 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:102748999G>A ENST00000370228.1 + 1 1217 c.1032G>A c.(1030-1032)gaG>gaA p.E344E C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Silent_p.E344E NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 344 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GTCCCCTGGAGGCCCTGAACG 0.582000 15 42 0 0 0.003163 0 0 OR4C13 283092 broad.mit.edu 37 11 49974126 49974126 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:49974126C>T ENST00000555099.1 + 1 184 c.152C>T c.(151-153)cCa>cTa p.P51L NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 51 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 ACTGCCAGCCCATCACTGAGA 0.428000 47 149 0 0 0.003610 0 0 COL3A1 1281 broad.mit.edu 37 2 189869027 189869027 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:189869027G>A ENST00000304636.3 + 40 3038 c.2868G>A c.(2866-2868)cgG>cgA p.R956R COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 956 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) CTGGAGCACGGGGTCTTGCAG 0.507000 12 15 0 0 0.001855 0 0 KLHL22 84861 broad.mit.edu 37 22 20819664 20819664 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:20819664G>A ENST00000328879.4 - 4 749 c.593C>T c.(592-594)tCc>tTc p.S198F KLHL22_ENST00000440659.2_Missense_Mutation_p.S55F NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 198 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCTGAGGAGGGAGTAGACCTT 0.557000 34 43 0 0 0.002836 0 0 FSTL4 23105 broad.mit.edu 37 5 132939627 132939627 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:132939627G>A ENST00000265342.7 - 2 297 c.48C>T c.(46-48)tcC>tcT p.S16S NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 16 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCCGGCAGGGAGGCTCCGA 0.532000 32 42 0 0 0.002096 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881959 228881959 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:228881959C>A ENST00000392056.3 - 7 3657 c.3611G>T c.(3610-3612)aGa>aTa p.R1204I SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1204I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1204 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) TCTGCTGTCTCTTTCGATGTC 0.572000 21 103 3.85864e-22 4.31969e-22 0.002780 1 0 EFCAB6 64800 broad.mit.edu 37 22 44178146 44178146 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:44178146C>T ENST00000262726.7 - 3 306 c.53G>A c.(52-54)cGa>cAa p.R18Q EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 18 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) TGTAAATTTTCGTGTGTGAGG 0.378000 44 64 0 0 0.002522 0 0 MROH2B 133558 broad.mit.edu 37 5 41032918 41032918 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:41032918G>A ENST00000399564.4 - 24 2817 c.2367C>T c.(2365-2367)ttC>ttT p.F789F MROH2B_ENST00000506092.2_Silent_p.F344F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CGTCTCTAATGAAGTCCTGAA 0.428000 9 13 0 0 0.004482 0 0 SNHG14 104472715 broad.mit.edu 37 15 25425476 25425476 + RNA SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25425476C>G ENST00000441592.2 + 0 464 CAGAGGAAGACGTGCATTGGG 0.622000 7 10 0 0 0.001984 0 0 NACA 4666 broad.mit.edu 37 12 57111328 57111328 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57111328G>A ENST00000454682.1 - 3 4267 c.3986C>T c.(3985-3987)cCc>cTc p.P1329L NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGCCCCTTTGGGGGGTGGGGT 0.627000 T BCL6 NHL 27 51 0 0 0.002836 0 0 COL4A2 1284 broad.mit.edu 37 13 111121656 111121656 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:111121656T>C ENST00000360467.5 + 28 2494 c.2188T>C c.(2188-2190)Ttc>Ctc p.F730L NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 730 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) TCGTGAAGGGTTCCCAGGACC 0.577000 7 12 0 0 0.001984 0 0 AFMID 125061 broad.mit.edu 37 17 76201792 76201792 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:76201792C>T ENST00000409257.5 + 9 807 c.753C>T c.(751-753)ttC>ttT p.F251F AFMID_ENST00000327898.5_Silent_p.F251F|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 251 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CCCCCGAATTCCACCGACAGT 0.592000 13 29 0 0 0.002450 0 0 DLEC1 9940 broad.mit.edu 37 3 38104186 38104186 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:38104186C>T ENST00000308059.6 + 5 1009 c.988C>T c.(988-990)Ccc>Tcc p.P330S DLEC1_ENST00000346219.3_Missense_Mutation_p.P330S|DLEC1_ENST00000452631.2_Missense_Mutation_p.P330S Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 330 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCTAAAAAATCCCCGTTTTTT 0.458000 34 47 0 0 0.002445 0 0 DNAH3 55567 broad.mit.edu 37 16 21157305 21157305 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:21157305C>T ENST00000261383.3 - 2 221 c.222_splice c.e2+1 p.Q74_splice DNAH3_ENST00000415178.1_Splice_Site_p.Q74_splice|DNAH3_ENST00000575491.1_5'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 74 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTGTGCATACCTGATAGAGTC 0.552000 14 44 0 0 0.003163 0 0 FGF3 2248 broad.mit.edu 37 11 69625419 69625419 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:69625419C>G ENST00000334134.2 - 3 464 c.374G>C c.(373-375)gGc>gCc p.G125A NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 125 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) CGTATTATAGCCCAGCTCGTG 0.632000 21 33 0 0 0.003330 0 0 FREM2 341640 broad.mit.edu 37 13 39263887 39263887 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:39263887C>T ENST00000280481.7 + 1 2622 c.2406C>T c.(2404-2406)ttC>ttT p.F802F NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 802 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGGCCCAGTTCCAGTTCCAGG 0.547000 26 52 0 0 0.005443 0 0 HHAT 55733 broad.mit.edu 37 1 210761357 210761357 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:210761357T>C ENST00000367010.1 + 10 1386 c.1159T>C c.(1159-1161)Tgc>Cgc p.C387R HHAT_ENST00000545781.1_Missense_Mutation_p.C324R|HHAT_ENST00000541565.1_Missense_Mutation_p.C250R|HHAT_ENST00000391905.3_Missense_Mutation_p.C387R|HHAT_ENST00000413764.2_Missense_Mutation_p.C387R|HHAT_ENST00000261458.3_Missense_Mutation_p.C387R|HHAT_ENST00000367009.1_Missense_Mutation_p.C77R|HHAT_ENST00000308852.6_Missense_Mutation_p.C342R|HHAT_ENST00000537898.1_Missense_Mutation_p.C322R|HHAT_ENST00000545154.1_Missense_Mutation_p.C388R NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 387 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CTACCTCTGGTGCTGGGCAGC 0.602000 23 23 0 0 0.001882 0 0 SUPT6H 6830 broad.mit.edu 37 17 27010091 27010091 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:27010091C>T ENST00000314616.6 + 15 2142 c.1859C>T c.(1858-1860)cCc>cTc p.P620L SUPT6H_ENST00000347486.4_Missense_Mutation_p.P620L NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 620 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AATATAACCCCCACCAAGAAA 0.532000 3 7 0 0 0.004672 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42860336 42860336 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:42860336C>T ENST00000398585.3 - 5 601 c.541G>A c.(541-543)Gac>Aac p.D181N TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.D144N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.D144N NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 144 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) CGATTCTCGTCCTCCCCGCCG 0.612000 T """ERG, ETV1, ETV4, ETV5""" prostate 24 21 0 0 0.008361 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257251 114257251 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:114257251C>T ENST00000306507.5 + 1 591 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 140 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 CATTAGTGGCCGCTTCCCCTA 0.632000 52 217 0 0 0.003610 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73932635 73932635 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:73932635C>T ENST00000476977.1 + 5 2279 c.588C>T c.(586-588)atC>atT p.I196I GTF2IRD1_ENST00000424337.2_Silent_p.I196I|GTF2IRD1_ENST00000265755.3_Silent_p.I196I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.I228I Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 196 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCCACCGCATCCGCTTCAAGC 0.701000 11 20 0 0 0.001368 0 0 ASS1 445 broad.mit.edu 37 9 133333934 133333934 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:133333934G>A ENST00000372394.1 + 5 802 c.321G>A c.(319-321)caG>caA p.Q107Q ASS1_ENST00000372393.3_Silent_p.Q107Q|ASS1_ENST00000352480.5_Silent_p.Q107Q P00966 ASSY_HUMAN argininosuccinate synthase 1 107 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) AAATCGCCCAGCGGGAGGGGG 0.667000 11 13 0 0 0.001368 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302248 128302248 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:128302248C>T ENST00000262462.4 + 1 1428 c.418C>T c.(418-420)Cgc>Tgc p.R140C SLC27A6_ENST00000506176.1_Missense_Mutation_p.R140C|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R140C Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 140 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CACCAACATTCGCTCCAACTC 0.602000 6 18 0 0 0.001168 0 0 INPP5D 3635 broad.mit.edu 37 2 234112976 234112976 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:234112976C>T ENST00000359570.5 + 28 3144 c.3144C>T c.(3142-3144)atC>atT p.1048_1048insI INPP5D_ENST00000455936.2_Missense_Mutation_p.812_812insI|INPP5D_ENST00000450745.1_Missense_Mutation_p.812_812insI Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CGCCCAGCATCGTGCTCACCA 0.687000 9 30 0 0 0.008291 0 0 SERPINB13 5275 broad.mit.edu 37 18 61261698 61261698 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61261698A>G ENST00000344731.5 + 6 684 c.582A>G c.(580-582)gaA>gaG p.E194E SERPINB13_ENST00000269489.5_Silent_p.E194E NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 194 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 TTAAGAAAGAAAATACTAAGG 0.398000 9 35 0 0 0.000978 0 0 CYLC1 1538 broad.mit.edu 37 X 83128722 83128722 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:83128722G>A ENST00000329312.4 + 4 1043 c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 336 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TACTGATGCTGAATCTGGAGA 0.343000 8 11 0 0 0.003080 0 0 SLC7A13 157724 broad.mit.edu 37 8 87241867 87241867 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:87241867C>T ENST00000297524.3 - 1 743 c.640G>A c.(640-642)Gga>Aga p.G214R SLC7A13_ENST00000419776.2_Missense_Mutation_p.G214R|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 214 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GCAAAATATCCTTGGAAGATG 0.368000 41 46 0 0 0.002222 0 0 PCLO 27445 broad.mit.edu 37 7 82545020 82545020 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:82545020G>A ENST00000423517.2 - 7 12619 c.12282C>T c.(12280-12282)ttC>ttT p.F4094F PCLO_ENST00000333891.8_Silent_p.F4094F|PCLO_ENST00000437081.1_Silent_p.F814F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4025 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 AAGGTGCTAGGAAATCTGTCA 0.453000 15 13 0 0 0.002450 0 0 XXYLT1 152002 broad.mit.edu 37 3 194947472 194947472 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:194947472G>A ENST00000310380.6 - 2 726 c.618C>T c.(616-618)ttC>ttT p.F206F XXYLT1_ENST00000429994.1_Silent_p.F60F NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 206 integral to membrane transferase activity, transferring glycosyl groups CGACCGAGAGGAAGAAGATGG 0.537000 11 63 0 0 0.002450 0 0 PTPRD 5789 broad.mit.edu 37 9 8485270 8485270 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:8485270G>A ENST00000381196.4 - 26 3653 c.3110C>T c.(3109-3111)tCt>tTt p.S1037F PTPRD_ENST00000397611.3_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Missense_Mutation_p.S626F|PTPRD_ENST00000397606.3_Missense_Mutation_p.S616F|PTPRD_ENST00000397617.3_Missense_Mutation_p.S616F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1024F|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1037F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1015F|PTPRD_ENST00000537002.1_Missense_Mutation_p.S623F|PTPRD_ENST00000486161.1_Missense_Mutation_p.S626F|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1037F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1037 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATCTCCCAAGACAGCAACAC 0.343000 TSP Lung(15;0.13) 16 11 0 0 0.008871 0 0 MYH15 22989 broad.mit.edu 37 3 108178230 108178230 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:108178230G>A ENST00000273353.3 - 19 2115 c.2059C>T c.(2059-2061)Ccc>Tcc p.P687S MYH15_ENST00000495753.2_5'UTR NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 687 Actin-binding (By similarity).|Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCACATTGGGATTTATGCAT 0.289000 21 21 0 0 0.003330 0 0 C2orf73 129852 broad.mit.edu 37 2 54587394 54587394 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:54587394C>T ENST00000398634.2 + 5 601 c.559C>T c.(559-561)Cct>Tct p.P187S C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 187 breast(2) 2 GCCAACAGTTCCTAAAGGAGC 0.443000 3 12 0 0 0.004672 0 0 DPYD 1806 broad.mit.edu 37 1 97700483 97700483 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:97700483G>A ENST00000370192.3 - 19 2467 c.2367C>T c.(2365-2367)ccC>ccT p.P789P DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 789 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TAGCCAAAATGGGAAATCCAG 0.468000 17 33 0 0 0.004007 0 0 STXBP5 134957 broad.mit.edu 37 6 147694887 147694887 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:147694887C>A ENST00000367481.3 + 24 3102 c.2994C>A c.(2992-2994)ttC>ttA p.F998L STXBP5_ENST00000367480.3_Missense_Mutation_p.F981L|STXBP5_ENST00000321680.6_Missense_Mutation_p.F1034L|STXBP5_ENST00000179882.6_Missense_Mutation_p.F689L NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 1034 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GTGAACTCTTCACTCCTGTAG 0.363000 23 51 1.64293e-13 1.83209e-13 0.003330 1 0 ZNF462 58499 broad.mit.edu 37 9 109691428 109691428 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:109691428C>T ENST00000277225.5 + 3 5524 c.5235C>T c.(5233-5235)atC>atT p.I1745I ZNF462_ENST00000457913.1_Silent_p.I1745I|ZNF462_ENST00000441147.2_Silent_p.I590I Q96JM2 ZN462_HUMAN zinc finger protein 462 1745 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AAGTGATCATCCCATCCCCGC 0.572000 13 12 0 0 0.003163 0 0 DNAH8 1769 broad.mit.edu 37 6 38690838 38690838 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:38690838C>T ENST00000449981.2 + 2 362 c.253C>T c.(253-255)Cga>Tga p.R85* 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 GAATAGAGTTCGACAGAGGCT 0.512000 28 46 0 0 0.008361 0 0 CAMK1G 57172 broad.mit.edu 37 1 209782328 209782328 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:209782328C>T ENST00000009105.1 + 8 884 c.639C>T c.(637-639)ctC>ctT p.L213L CAMK1G_ENST00000361322.2_Silent_p.L213L|CAMK1G_ENST00000494990.1_3'UTR Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 213 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) GCTGCAGGCTCTGTGGATACC 0.512000 26 54 0 0 0.005443 0 0 OR2T33 391195 broad.mit.edu 37 1 248437021 248437021 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248437021G>A ENST00000318021.2 - 1 117 c.96C>T c.(94-96)atC>atT p.I32I NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGGTCAAAACGATACTCAGAA 0.478000 4 66 0 0 0.004482 0 0 TTLL7 79739 broad.mit.edu 37 1 84386840 84386840 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:84386840C>T ENST00000260505.8 - 12 1671 c.1294G>A c.(1294-1296)Gag>Aag p.E432K TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 432 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) GCGAGTCTCTCTTTCTGGAAA 0.328000 16 54 0 0 0.004007 0 0 NTSR1 4923 broad.mit.edu 37 20 61391602 61391602 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:61391602C>T ENST00000370501.3 + 4 1611 c.1240C>T c.(1240-1242)Cgc>Tgc p.R414C NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 414 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CAATGCCACCCGCGAGACGCT 0.687000 17 24 0 0 0.006122 0 0 SGK1 6446 broad.mit.edu 37 6 134491456 134491456 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:134491456C>T ENST00000367858.5 - 14 2128 c.1531G>A c.(1531-1533)Gag>Aag p.E511K SGK1_ENST00000367857.5_Missense_Mutation_p.E406K|SGK1_ENST00000475719.2_Missense_Mutation_p.E372K|SGK1_ENST00000528577.1_Missense_Mutation_p.E444K|SGK1_ENST00000237305.7_Missense_Mutation_p.E416K|SGK1_ENST00000413996.3_Missense_Mutation_p.E430K NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 416 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) AGGAAAGCCTCGGCAGCTTCC 0.532000 23 63 0 0 0.002780 0 0 PARP9 83666 broad.mit.edu 37 3 122274437 122274437 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:122274437G>A ENST00000462315.1 - 4 874 c.581C>T c.(580-582)aCt>aTt p.T194I PARP9_ENST00000471785.1_Missense_Mutation_p.T194I|PARP9_ENST00000477522.2_Missense_Mutation_p.T194I|PARP9_ENST00000360356.2_Missense_Mutation_p.T229I|PARP9_ENST00000492382.1_Intron NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 229 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CTTAATGTGAGTATTTTTATA 0.423000 18 25 0 0 0.006122 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265234 42265234 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:42265234G>A ENST00000199764.6 + 3 720 c.502G>A c.(502-504)Gaa>Aaa p.E168K AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 168 Ig-like C2-type 1. 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) CTTCACCTGTGAACCTGAGGT 0.567000 98 134 0 0 0.003610 0 0 RTKN2 219790 broad.mit.edu 37 10 63983057 63983057 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:63983057G>A ENST00000373789.3 - 7 817 c.721C>T c.(721-723)Cta>Tta p.L241L RTKN2_ENST00000395265.1_Silent_p.L241L|RTKN2_ENST00000315289.2_Silent_p.L22L NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 241 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TCCAAGGTTAGGGTAGTGTGA 0.294000 17 91 0 0 0.008871 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886515 228886515 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:228886515C>T ENST00000392056.3 - 6 655 c.609G>A c.(607-609)acG>acA p.T203T SPHKAP_ENST00000344657.5_Silent_p.T203T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 203 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) AGGAACAGTTCGTGTCATCCT 0.463000 24 38 0 0 0.003330 0 0 THSD4 79875 broad.mit.edu 37 15 71433893 71433893 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:71433893C>T ENST00000355327.3 + 2 161 c.27C>T c.(25-27)ctC>ctT p.L9L THSD4_ENST00000261862.6_Silent_p.L9L Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 9 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 TGGGGTCTCTCAGGTAAGTGA 0.393000 7 21 0 0 0.004482 0 0 CCKAR 886 broad.mit.edu 37 4 26483297 26483297 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:26483297G>A ENST00000295589.3 - 5 1444 c.1250C>T c.(1249-1251)tCg>tTg p.S417L NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 417 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) ATGGCTGTACGAGAACCTGGA 0.637000 55 100 0 0 0.003610 0 0 MAML1 9794 broad.mit.edu 37 5 179201801 179201801 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:179201801C>T ENST00000292599.3 + 5 3237 c.2974C>T c.(2974-2976)Ctg>Ttg p.L992L MAML1_ENST00000503050.1_Intron NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 992 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACACACCGATCTGATCGACTC 0.557000 19 71 0 0 0.007413 0 0 JAG1 182 broad.mit.edu 37 20 10630183 10630183 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:10630183C>T ENST00000254958.5 - 10 1850 c.1335G>A c.(1333-1335)caG>caA p.Q445Q JAG1_ENST00000423891.2_Silent_p.Q286Q NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 445 EGF-like 6; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TGTCACAATTCTGACCCATCC 0.468000 Alagille Syndrome 13 15 0 0 0.001368 0 0 IRX3 79191 broad.mit.edu 37 16 54318800 54318800 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:54318800C>T ENST00000329734.3 - 2 1705 c.993G>A c.(991-993)ctG>ctA p.L331L NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 331 Pro-rich. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 CGCAGGGGTCCAGGCTCACGG 0.721000 7 8 0 0 0.003080 0 0 GALC 2581 broad.mit.edu 37 14 88448548 88448548 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:88448548C>T ENST00000261304.2 - 6 728 c.e6+1 GALC_ENST00000554916.1_Splice_Site|GALC_ENST00000393568.4_Splice_Site|GALC_ENST00000393569.2_Splice_Site|GALC_ENST00000544807.2_Splice_Site NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTTGTACACACCTTAATATAA 0.289000 9 25 0 0 0.008291 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229718 8229718 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:8229718C>T ENST00000539824.1 + 12 2443 c.2069C>T c.(2068-2070)tCc>tTc p.S690F SH3TC1_ENST00000245105.3_Missense_Mutation_p.S766F Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 766 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GCCCAAACTTCCCACTACCTC 0.692000 14 21 0 0 0.004007 0 0 ZNF257 113835 broad.mit.edu 37 19 22270897 22270897 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22270897G>A ENST00000594947.1 + 4 489 c.345G>A c.(343-345)aaG>aaA p.K115K ZNF257_ENST00000600162.1_3'UTR NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AATTAAGAAAGGGCTGTAAAA 0.358000 23 34 0 0 0.004656 0 0 RIMS2 9699 broad.mit.edu 37 8 104943551 104943551 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:104943551G>A ENST00000507740.1 + 9 1917 c.1681G>A c.(1681-1683)Gat>Aat p.D561N RIMS2_ENST00000436393.2_Missense_Mutation_p.D547N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D608N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D769N NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 831 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) GGGAGCAAAAGATCTCCCTTC 0.323000 HNSCC(12;0.0054) 28 53 0 0 0.001786 0 0 ANKRD35 148741 broad.mit.edu 37 1 145555775 145555775 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:145555775C>T ENST00000355594.4 + 2 210 c.123C>T c.(121-123)tcC>tcT p.S41S ANKRD35_ENST00000544626.1_Silent_p.S41S NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 41 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCTGGCCTCCAGGAAATCTG 0.622000 12 33 0 0 0.001855 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30863305 30863305 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:30863305G>A ENST00000251071.5 - 18 3665 c.2915C>T c.(2914-2916)cCt>cTt p.P972L CAPRIN2_ENST00000417045.1_3'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P638L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P922L|CAPRIN2_ENST00000395805.2_3'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 972 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) CACATCCACAGGGGTCATGCT 0.547000 109 214 0 0 0.003610 0 0 VPS13B 157680 broad.mit.edu 37 8 100454726 100454726 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:100454726G>A ENST00000395996.1 + 23 3419 c.3308G>A c.(3307-3309)tGg>tAg p.W1103* VPS13B_ENST00000358544.2_Nonsense_Mutation_p.W1103*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.W1103* Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1103 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) GTAAGAAGTTGGTACCATGGA 0.433000 27 44 0 0 0.003954 0 0 RAD50 10111 broad.mit.edu 37 5 131940662 131940662 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:131940662G>A ENST00000378823.3 + 16 3090 c.2272G>A c.(2272-2274)Gaa>Aaa p.E758K RAD50_ENST00000265335.6_Missense_Mutation_p.E897K NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 897 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTATCCACTGAAGTTCAGTC 0.299000 Homologous recombination 10 23 0 0 0.002450 0 0 CSF2RA 1438 broad.mit.edu 37 X 1401667 1401667 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:1401667A>T ENST00000381524.3 + 3 257 c.71A>T c.(70-72)aAa>aTa p.K24I CSF2RA_ENST00000417535.2_Missense_Mutation_p.K24I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.K24I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K24I|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K24I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K24I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K24I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K24I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.K24I P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 24 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) ATCCCAGAGAAATCGGGTAAG 0.537000 92 212 0 0 0.003610 0 0 ZNF676 163223 broad.mit.edu 37 19 22363612 22363612 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22363612G>A ENST00000397121.2 - 3 1224 c.907C>T c.(907-909)Cat>Tat p.H303Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTCCAGTATGAATTCTCTTA 0.438000 27 53 0 0 0.002096 0 0 TTN 7273 broad.mit.edu 37 2 179425534 179425534 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179425534G>A ENST00000589042.1 - 326 85549 c.85325C>T c.(85324-85326)gCc>gTc p.A28442V TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A19502V|TTN_ENST00000342175.6_Missense_Mutation_p.A19569V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A26801V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A25874V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A19377V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26801 Fibronectin type-III 107. 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) GCAATTAACGGCCACAGACCG 0.458000 10 35 0 0 0.006214 0 0 NLRP13 126204 broad.mit.edu 37 19 56424493 56424493 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56424493C>T ENST00000588751.1 - 5 714 c.690G>A c.(688-690)acG>acA p.T230T NLRP13_ENST00000342929.3_Silent_p.T230T Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 230 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCAAGACTATCGTCTGGGCCT 0.522000 58 115 0 0 0.003610 0 0 STARD3 10948 broad.mit.edu 37 17 37814692 37814692 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:37814692C>T ENST00000336308.5 + 6 682 c.464C>T c.(463-465)cCc>cTc p.P155L STARD3_ENST00000544210.2_Missense_Mutation_p.P151S|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.P137L|STARD3_ENST00000580611.1_Missense_Mutation_p.P129L NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 155 MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TACCTGCTCCCCATCGTCTCT 0.592000 19 39 0 0 0.007413 0 0 PLCG2 5336 broad.mit.edu 37 16 81960745 81960745 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:81960745G>A ENST00000359376.3 + 23 2690 c.2476G>A c.(2476-2478)Gac>Aac p.D826N NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 826 SH3. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CTACGTCGAGGACATCTCAAC 0.532000 33 93 0 0 0.003271 0 0 PTPRS 5802 broad.mit.edu 37 19 5220054 5220054 + Missense_Mutation SNP G G A rs114904537 by1000genomes TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:5220054G>A ENST00000372412.4 - 22 3897 c.3664C>T c.(3664-3666)Cat>Tat p.H1222Y PTPRS_ENST00000357368.4_Missense_Mutation_p.H1221Y|PTPRS_ENST00000353284.2_Missense_Mutation_p.H790Y|PTPRS_ENST00000348075.2_Missense_Mutation_p.H1199Y|PTPRS_ENST00000592099.1_Missense_Mutation_p.H790Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.H1199Y|PTPRS_ENST00000587303.1_Missense_Mutation_p.H1221Y|PTPRS_ENST00000262963.6_Missense_Mutation_p.H1217Y Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1221 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TCGCCGGGATGGAACGTGGGT 0.642000 28 46 0 0 0.003755 0 0 RETNLB 84666 broad.mit.edu 37 3 108475404 108475404 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:108475404G>A ENST00000295755.6 - 2 357 c.159C>T c.(157-159)ctC>ctT p.L53L RETNLB_ENST00000482939.1_5'UTR NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 53 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 TAGCACACGAGAGCTTCTTGC 0.527000 6 44 0 0 0.003080 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441550 1441550 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:1441550G>A ENST00000270349.9 - 3 469 c.342C>T c.(340-342)ttC>ttT p.F114F SLC6A3_ENST00000453492.2_Silent_p.F114F NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 114 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GCTCCATGTAGAAAAGTGGCA 0.577000 20 31 0 0 0.007413 0 0 STK31 56164 broad.mit.edu 37 7 23854802 23854802 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:23854802G>A ENST00000354639.3 + 23 3195 c.2731G>A c.(2731-2733)Gga>Aga p.G911R STK31_ENST00000433467.2_Intron|STK31_ENST00000355870.3_Missense_Mutation_p.G934R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.G911R NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 934 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAATAAAGATGGAATCCCCAA 0.323000 17 34 0 0 0.006122 0 0 OR10J1 26476 broad.mit.edu 37 1 159410507 159410507 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:159410507C>T ENST00000423932.3 + 1 996 c.959C>T c.(958-960)tCc>tTc p.S320F RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 320 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GGGAAGTTTTCCTGACCATGT 0.493000 30 49 0 0 0.002445 0 0 PTPRK 5796 broad.mit.edu 37 6 128643369 128643369 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:128643369G>A ENST00000368227.3 - 3 676 c.310C>T c.(310-312)Cac>Tac p.H104Y PTPRK_ENST00000532331.1_Missense_Mutation_p.H104Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.H104Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.H104Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.H104Y|PTPRK_ENST00000525459.1_Missense_Mutation_p.H104Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.H104Y|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.H104Y Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 104 MAM. 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) TCAATGCAGTGAGTGTCGTTC 0.418000 58 98 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82545000 82545000 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:82545000G>A ENST00000423517.2 - 7 12639 c.12302C>T c.(12301-12303)tCc>tTc p.S4101F PCLO_ENST00000333891.8_Missense_Mutation_p.S4101F|PCLO_ENST00000437081.1_Missense_Mutation_p.S821F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4032 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 CAATCTAGAGGAAGACTGTAA 0.438000 17 17 0 0 0.004990 0 0 DCC 1630 broad.mit.edu 37 18 50937012 50937012 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:50937012G>A ENST00000442544.2 + 20 3742 c.3126G>A c.(3124-3126)ctG>ctA p.L1042L DCC_ENST00000412726.1_Silent_p.L870L|DCC_ENST00000581580.1_Silent_p.L677L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1042 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCAGGACTCTGAAAGGTTTGA 0.388000 24 29 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9046853 9046853 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9046853G>A ENST00000397910.4 - 5 34981 c.34778C>T c.(34777-34779)cCc>cTc p.P11593L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11595 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 GGAAAAGTTGGGAATTGTCCC 0.522000 30 56 0 0 0.002096 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111643176 111643176 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:111643176T>A ENST00000261486.5 - 2 387 c.111A>T c.(109-111)aaA>aaT p.K37N NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 37 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CAACGGAACCTTTCGTTGACT 0.378000 13 42 0 0 0.001368 0 0 SEPT14 346288 broad.mit.edu 37 7 55912396 55912396 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:55912396C>T ENST00000388975.3 - 4 307 c.191G>A c.(190-192)gGa>gAa p.G64E SEPT14_ENST00000477628.1_5'UTR NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 64 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGTCGATTTTCCAATTCCAGT 0.343000 8 26 0 0 0.003080 0 0 CACNA1E 777 broad.mit.edu 37 1 181767550 181767550 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:181767550C>T ENST00000526775.1 + 46 6501 c.6336C>T c.(6334-6336)tcC>tcT p.S2112S CACNA1E_ENST00000358338.5_Silent_p.S2063S|CACNA1E_ENST00000367573.2_Silent_p.S2174S|CACNA1E_ENST00000367567.4_Silent_p.S1738S|CACNA1E_ENST00000357570.5_Silent_p.S2125S|CACNA1E_ENST00000367570.1_Silent_p.S2131S|CACNA1E_ENST00000360108.3_Silent_p.S2155S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2174 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 CCTACAGCTCCCTGATTCGAC 0.632000 31 64 0 0 0.002096 0 0 FAM179A 165186 broad.mit.edu 37 2 29245104 29245104 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:29245104G>A ENST00000379558.4 + 11 1792 c.1441G>A c.(1441-1443)Gag>Aag p.E481K FAM179A_ENST00000403861.2_Missense_Mutation_p.E426K|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 481 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 AGCCTGTAAGGAGTTGAGGCC 0.537000 24 42 0 0 0.004656 0 0 ZNF99 7652 broad.mit.edu 37 19 22939275 22939275 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22939275G>A ENST00000397104.3 - 7 2895 c.2896C>T c.(2896-2898)Cat>Tat p.H966Y 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) TTTCCAGTATGAATTATCCTA 0.358000 12 13 0 0 0.001855 0 0 FSCN1 6624 broad.mit.edu 37 7 5642949 5642949 + Silent SNP C C T rs147410388 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:5642949C>T ENST00000382361.3 + 2 1008 c.894C>T c.(892-894)atC>atT p.I298I FSCN1_ENST00000340250.6_Silent_p.I277I NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 298 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging p.I298I(1) central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) AGCTGGAGATCGACCGCGACA 0.637000 21 46 0 0 0.002299 0 0 MYH2 4620 broad.mit.edu 37 17 10432099 10432099 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10432099G>A ENST00000245503.5 - 27 4036 c.3652C>T c.(3652-3654)Cga>Tga p.R1218* MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.R1218*|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1218 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 TGCTTCACTCGCTGCAGGTTG 0.527000 43 27 0 0 0.003610 0 0 ID2 3398 broad.mit.edu 37 2 8822544 8822544 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:8822544C>T ENST00000234091.4 + 3 1109 c.249C>T c.(247-249)ccC>ccT p.P83P ID2_ENST00000331129.3_Silent_p.P83P|ID2_ENST00000396290.1_Silent_p.P83P Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 83 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACTCGCATCCCACTATTGTCA 0.582000 12 37 0 0 0.001855 0 0 GPATCH1 55094 broad.mit.edu 37 19 33617590 33617590 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:33617590C>T ENST00000170564.2 + 19 3030 c.2716C>T c.(2716-2718)Cag>Tag p.Q906* NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 906 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CAGCGACAGCCAGAGTGACGA 0.488000 OREG0025410 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 60 0 0 0.001882 0 0 NAA25 80018 broad.mit.edu 37 12 112506773 112506773 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:112506773G>A ENST00000261745.4 - 11 1308 c.1060C>T c.(1060-1062)Cag>Tag p.Q354* NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 354 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TTAAAATACTGGAACATTAAT 0.343000 23 39 0 0 0.002299 0 0 PSAP 5660 broad.mit.edu 37 10 73587852 73587852 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:73587852C>T ENST00000394936.3 - 6 786 c.639G>A c.(637-639)cgG>cgA p.R213R PSAP_ENST00000394934.1_Silent_p.R213R P07602 SAP_HUMAN prosaposin 213 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TGGAGTTGGTCCGTACAGCAG 0.537000 50 45 0 0 0.003610 0 0 OR2M7 391196 broad.mit.edu 37 1 248487663 248487663 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248487663C>T ENST00000317965.2 - 1 236 c.208G>A c.(208-210)Gac>Aac p.D70N NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 70 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) AGCATGAGGTCCATGAGGGAC 0.512000 99 167 0 0 0.003610 0 0 SCML2 10389 broad.mit.edu 37 X 18259476 18259476 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:18259476G>A ENST00000251900.4 - 15 2157 c.1998C>T c.(1996-1998)ttC>ttT p.F666F SCML2_ENST00000398048.3_3'UTR NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 666 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TCTTGAGTAGGAACAGAGCCT 0.343000 54 14 0 0 0.003610 0 0 DHX38 9785 broad.mit.edu 37 16 72132922 72132922 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:72132922C>T ENST00000268482.3 + 6 1370 c.861C>T c.(859-861)acC>acT p.T287T DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 287 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TGGGGTCCACCCCGCGTCTGT 0.622000 7 29 0 0 0.003080 0 0 TRPV1 7442 broad.mit.edu 37 17 3495376 3495376 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:3495376C>G ENST00000174621.6 - 2 482 c.193G>C c.(193-195)Gcc>Ccc p.A65P TRPV1_ENST00000425167.2_Missense_Mutation_p.G90A|TRPV1_ENST00000399756.4_Missense_Mutation_p.G90A|TRPV1_ENST00000571088.1_Missense_Mutation_p.G90A|TRPV1_ENST00000310522.5_Missense_Mutation_p.G90A|TRPV1_ENST00000399759.3_Missense_Mutation_p.G90A|TRPV1_ENST00000576351.1_Missense_Mutation_p.G90A|SHPK_ENST00000572705.1_Missense_Mutation_p.G90A Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 763 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) ACCGGTGGGGCCGTCTCCTGG 0.647000 14 14 0 0 0.002450 0 0 CFHR3 10878 broad.mit.edu 37 1 196748941 196748941 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:196748941C>T ENST00000471440.2 + 3 342 c.268C>T c.(268-270)Cct>Tct p.P90S CFHR3_ENST00000367425.4_Missense_Mutation_p.P90S|CFHR3_ENST00000391985.3_Missense_Mutation_p.P90S complement factor H-related 3 p.P90S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 ATGTTATTTTCCTTATTTGGA 0.299000 9 3 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179438459 179438459 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179438459C>T ENST00000589042.1 - 326 72624 c.72400G>A c.(72400-72402)Gaa>Aaa p.E24134K TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15194K|TTN_ENST00000342175.6_Missense_Mutation_p.E15261K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22493K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21566K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15069K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22493 Fibronectin type-III 75. 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) GATGTCACTTCAGTTACAGCC 0.443000 54 52 0 0 0.003610 0 0 DCC 1630 broad.mit.edu 37 18 50912476 50912476 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:50912476T>A ENST00000442544.2 + 16 3039 c.2423T>A c.(2422-2424)cTt>cAt p.L808H DCC_ENST00000412726.1_Missense_Mutation_p.L656H|DCC_ENST00000581580.1_Missense_Mutation_p.L463H NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 808 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGAGTTCCTCTTTATGAAAGT 0.348000 13 36 0 0 0.004007 0 0 RAE1 8480 broad.mit.edu 37 20 55953129 55953129 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:55953129G>A ENST00000395841.2 + 12 1501 c.1081G>A c.(1081-1083)Gag>Aag p.E361K RAE1_ENST00000371242.2_Missense_Mutation_p.E361K|RAE1_ENST00000395840.2_Missense_Mutation_p.E361K NM_003610.3 NP_003601.1 P78406 RAE1L_HUMAN ribonucleic acid export 1 361 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2) 21 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) TGCAGCCGAAGAGCTAAAGCC 0.418000 11 15 0 0 0.001855 0 0 CCDC94 55702 broad.mit.edu 37 19 4249240 4249240 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:4249240G>A ENST00000262962.7 + 2 108 c.40G>A c.(40-42)Gac>Aac p.D14N NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 14 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) CTACCCGCCGGACTTTGACCC 0.587000 17 29 0 0 0.004990 0 0 SPINK9 643394 broad.mit.edu 37 5 147716007 147716007 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:147716007G>A ENST00000511717.2 + 3 411 c.141G>A c.(139-141)acG>acA p.T47T SPINK9_ENST00000377906.1_Silent_p.T26T|RP11-373N22.3_ENST00000501695.3_RNA Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 26 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAACAGACGAAACAGATGG 0.299000 23 92 0 0 0.004656 0 0 HR 55806 broad.mit.edu 37 8 21978678 21978678 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:21978678G>A ENST00000381418.4 - 10 3747 c.2267C>T c.(2266-2268)cCt>cTt p.P756L HR_ENST00000312841.8_Missense_Mutation_p.P756L NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 756 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCAGAGAGAAGGACAAGGCAG 0.642000 55 103 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916226 9916226 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:9916226C>T ENST00000396573.2 - 11 2372 c.2063G>A c.(2062-2064)gGa>gAa p.G688E GRIN2A_ENST00000330684.3_Missense_Mutation_p.G688E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G688E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G688E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G531E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G688E NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 688 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) CTCCGTGCTTCCATTAGGCAC 0.443000 13 41 0 0 0.002450 0 0 DNAH17 8632 broad.mit.edu 37 17 76437248 76437248 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:76437248G>A ENST00000389840.5 - 72 11644 c.11520C>T c.(11518-11520)ttC>ttT p.F3840F DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Silent_p.F3849F 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) GGCCTTCCACGAACTTGCTGC 0.602000 22 31 0 0 0.003330 0 0 FRMD7 90167 broad.mit.edu 37 X 131220009 131220009 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:131220009G>A ENST00000298542.4 - 6 611 c.436C>T c.(436-438)Cgg>Tgg p.R146W FRMD7_ENST00000464296.1_Missense_Mutation_p.R131W|FRMD7_ENST00000370879.1_Missense_Mutation_p.R26W NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 146 FERM. R -> W (in NYS1). 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) GGTAAGTACCGAGTTTGTGCC 0.433000 68 23 0 0 0.003610 0 0 CHRM2 1129 broad.mit.edu 37 7 136700040 136700040 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:136700040T>G ENST00000445907.2 + 3 956 c.428T>G c.(427-429)aTg>aGg p.M143R CHRM2_ENST00000402486.3_Missense_Mutation_p.M143R|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M143R|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M143R|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M143R|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M143R NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 143 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GCAGGTATGATGATTGCAGCT 0.502000 41 59 0 0 0.007835 0 0 MUC4 4585 broad.mit.edu 37 3 195493586 195493586 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:195493586G>A ENST00000463781.3 - 8 14025 c.13566C>T c.(13564-13566)tcC>tcT p.S4522S MUC4_ENST00000346145.4_Silent_p.S286S|MUC4_ENST00000349607.4_Silent_p.S235S|MUC4_ENST00000475231.1_Silent_p.S4470S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1279 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACACTGGCTGGGACATCAGTG 0.552000 29 37 0 0 0.002445 0 0 SCGB1C1 147199 broad.mit.edu 37 11 193726 193726 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:193726G>A ENST00000342878.2 + 2 90 c.70G>A c.(70-72)Gag>Aag p.E24K BET1L_ENST00000410108.1_Intron NM_145651.2 NP_663626.2 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 24 extracellular region binding endometrium(1)|liver(2)|lung(1)|skin(1) 5 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GGCCACAGGGGAGGACAACGA 0.577000 18 42 0 0 0.007413 0 0 PAK3 5063 broad.mit.edu 37 X 110390987 110390987 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:110390987G>A ENST00000519681.1 + 8 804 c.362G>A c.(361-363)cGa>cAa p.R121Q PAK3_ENST00000360648.4_Missense_Mutation_p.R136Q|PAK3_ENST00000425146.1_Missense_Mutation_p.R100Q|PAK3_ENST00000372007.4_Missense_Mutation_p.R100Q|PAK3_ENST00000262836.4_Missense_Mutation_p.R115Q|PAK3_ENST00000417227.1_Missense_Mutation_p.R121Q|PAK3_ENST00000518291.1_Missense_Mutation_p.R136Q|PAK3_ENST00000372010.1_Missense_Mutation_p.R115Q|PAK3_ENST00000446737.1_Missense_Mutation_p.R100Q O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 115 Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CAATGGGCACGATTACTCCAA 0.398000 TSP Lung(19;0.15) 40 14 0 0 0.002222 0 0 ANK2 287 broad.mit.edu 37 4 114179525 114179525 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:114179525C>T ENST00000357077.4 + 13 1397 c.1344C>T c.(1342-1344)ctC>ctT p.L448L ANK2_ENST00000394537.3_Silent_p.L448L|ANK2_ENST00000264366.6_Silent_p.L448L|ANK2_ENST00000506722.1_Silent_p.L427L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 448 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACATTGTCCTCCTTCTGCTGC 0.517000 36 146 0 0 0.006999 0 0 C14orf37 145407 broad.mit.edu 37 14 58471804 58471804 + Missense_Mutation SNP G G A rs146935912 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:58471804G>A ENST00000267485.7 - 7 2412 c.2218C>T c.(2218-2220)Cgc>Tgc p.R740C NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 740 Poly-Arg. integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 CTCCTTCGGCGATTCATAACC 0.443000 40 73 0 0 0.008740 0 0 NBEA 26960 broad.mit.edu 37 13 35735898 35735898 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:35735898T>C ENST00000400445.3 + 23 4407 c.3873T>C c.(3871-3873)ggT>ggC p.G1291G NBEA_ENST00000379939.2_Silent_p.G1291G|NBEA_ENST00000540320.1_Silent_p.G1291G|NBEA_ENST00000310336.4_Silent_p.G1291G NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1291 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTGTGCAGGGTCGGTCTATCA 0.428000 4 10 0 0 0.000602 0 0 ITGB8 3696 broad.mit.edu 37 7 20445782 20445782 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:20445782G>A ENST00000222573.3 + 12 2695 c.2011G>A c.(2011-2013)Gac>Aac p.D671N ITGB8_ENST00000537992.1_Missense_Mutation_p.D536N NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 671 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 GCATTATGTCGACCAAACTTC 0.423000 18 29 0 0 0.006122 0 0 HTR2C 3358 broad.mit.edu 37 X 114082605 114082605 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:114082605G>A ENST00000276198.1 + 5 1117 c.389G>A c.(388-390)tGg>tAg p.W130* HTR2C_ENST00000371950.3_Nonsense_Mutation_p.W130*|HTR2C_ENST00000371951.1_Nonsense_Mutation_p.W130* NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 130 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGCCCCGTCTGGATTTCTTTA 0.418000 51 23 0 0 0.003610 0 0 TAF4 6874 broad.mit.edu 37 20 60585161 60585161 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:60585161G>A ENST00000252996.3 - 4 1701 c.1702C>T c.(1702-1704)Cag>Tag p.Q568* NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 568 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GTCCCCGTCTGAACAGCCGTC 0.607000 13 43 0 0 0.003163 0 0 ZBTB2 57621 broad.mit.edu 37 6 151686992 151686992 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:151686992G>A ENST00000325144.4 - 3 1349 c.1209C>T c.(1207-1209)aaC>aaT p.N403N NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) GGGCAGCCTGGTTGGCCCTGC 0.512000 26 47 0 0 0.004656 0 0 PES1 23481 broad.mit.edu 37 22 30984049 30984049 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:30984049G>A ENST00000354694.6 - 3 323 c.217C>T c.(217-219)Ctc>Ttc p.L73F PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.L73F|PES1_ENST00000335214.6_Missense_Mutation_p.L73F NM_001243225.1|NM_014303.3 NP_001230154.1|NP_055118.1 O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 73 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 TCGTGGAGGAGAAACCTGATG 0.478000 43 60 0 0 0.003214 0 0 ACTL7B 10880 broad.mit.edu 37 9 111618190 111618190 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:111618190G>A ENST00000374667.3 - 1 1049 c.21C>T c.(19-21)ccC>ccT p.P7P NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 7 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCAGGGGCATGGGGCTGTTCC 0.662000 17 23 0 0 0.007413 0 0 KIRREL 55243 broad.mit.edu 37 1 158047787 158047787 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158047787C>T ENST00000368173.3 + 3 613 c.209C>T c.(208-210)cCa>cTa p.P70L KIRREL_ENST00000360089.4_Missense_Mutation_p.P9L|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000359209.6_Missense_Mutation_p.P70L|KIRREL_ENST00000392272.2_Missense_Mutation_p.P70L NM_018240.5 NP_060710.3 Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 70 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCAGCCTGGCCACGGTACCGG 0.592000 34 60 0 0 0.006230 0 0 SYN3 8224 broad.mit.edu 37 22 32909800 32909800 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:32909800G>C ENST00000358763.2 - 14 1864 c.1622C>G c.(1621-1623)tCc>tGc p.S541C SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.S541C NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 541 E. 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 GTTAGTCAGGGACTGAGATTT 0.537000 24 60 0 0 0.005443 0 0 OR5A1 219982 broad.mit.edu 37 11 59210723 59210723 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:59210723G>A ENST00000302030.2 + 1 107 c.82G>A c.(82-84)Gcc>Acc p.A28T NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 AGAACTCCAGGCCCTCCTCTT 0.537000 57 52 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25514984 25514984 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25514984C>T ENST00000554726.1 + 0 47 SNORD115-48_ENST00000364764.1_RNA|SNHG14_ENST00000452731.1_RNA AAATTAAGTTCAGTTGGATTA 0.413000 15 19 0 0 0.007413 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017356 93017356 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:93017356C>T ENST00000523629.1 - 6 1182 c.728G>A c.(727-729)cGa>cAa p.R243Q RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R254Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R216Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R243Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R216Q NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 243 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTCTGGAGTTCGCCTCTTCCC 0.522000 33 94 0 0 0.004289 0 0 HECW1 23072 broad.mit.edu 37 7 43484300 43484300 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:43484300G>A ENST00000395891.1 + 11 2134 c.1529G>A c.(1528-1530)gGa>gAa p.G510E HECW1_ENST00000453890.1_Missense_Mutation_p.G510E NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 510 Glu-rich. 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 gaggaggaggGAGATGTGTCT 0.637000 8 11 0 0 0.003080 0 0 TET1 80312 broad.mit.edu 37 10 70332852 70332852 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:70332852C>T ENST00000373644.4 + 2 966 c.757C>T c.(757-759)Ccc>Tcc p.P253S NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 253 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TGCTCCTTTTCCCCAAAGAGC 0.448000 10 45 0 0 0.001855 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188434 140188434 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140188434C>T ENST00000530339.1 + 1 1662 c.1662C>T c.(1660-1662)ttC>ttT p.F554F PCDHA4_ENST00000512229.2_Silent_p.F554F|PCDHA4_ENST00000356878.4_Silent_p.F554F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTGTTCGTGCTGGACG 0.667000 53 47 0 0 0.003610 0 0 ATP13A1 57130 broad.mit.edu 37 19 19763426 19763426 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:19763426T>C ENST00000357324.6 - 16 2230 c.2204A>G c.(2203-2205)gAg>gGg p.E735G ATP13A1_ENST00000291503.5_Missense_Mutation_p.E617G NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 735 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 ATTCTGGATCTCCCGGATCAC 0.612000 4 9 0 0 0.000602 0 0 MAST4 375449 broad.mit.edu 37 5 66437978 66437978 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:66437978C>T ENST00000404260.3 + 20 2847 c.2539C>T c.(2539-2541)Cgt>Tgt p.R847C MAST4_ENST00000405643.1_Missense_Mutation_p.R665C|MAST4_ENST00000403666.1_Missense_Mutation_p.R655C|MAST4_ENST00000261569.7_Missense_Mutation_p.R650C|MAST4_ENST00000403625.2_Missense_Mutation_p.R844C O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 847 AGC-kinase C-terminal. 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) TCGATTCTTCCGTTCTTTAGA 0.428000 53 98 0 0 0.003610 0 0 BRF2 55290 broad.mit.edu 37 8 37702243 37702243 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:37702243G>A ENST00000220659.6 - 4 1145 c.1025C>T c.(1024-1026)tCc>tTc p.S342F GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 342 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TAAACCTAAGGAATTATTTCC 0.622000 18 29 0 0 0.007413 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516390 140516390 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140516390C>T ENST00000231134.5 + 1 1591 c.1374C>T c.(1372-1374)ttC>ttT p.F458F NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 458 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGAGAGA 0.617000 62 82 0 0 0.003610 0 0 XIRP1 165904 broad.mit.edu 37 3 39227331 39227331 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:39227331C>T ENST00000340369.3 - 2 3834 c.3606G>A c.(3604-3606)atG>atA p.M1202I XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1202 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) GCCCCCAGGCCATCTGTGTGC 0.687000 14 37 0 0 0.004007 0 0 NXPE4 54827 broad.mit.edu 37 11 114450906 114450906 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:114450906C>T ENST00000375478.3 - 5 1227 c.1047G>A c.(1045-1047)atG>atA p.M349I NXPE4_ENST00000424261.2_Missense_Mutation_p.M65I NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 TGGAATCTCCCATTAGGTATA 0.438000 71 49 0 0 0.003610 0 0 KIF26A 26153 broad.mit.edu 37 14 104643552 104643552 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:104643552C>T ENST00000315264.7 + 11 4388 c.4010C>T c.(4009-4011)cCa>cTa p.P1337L KIF26A_ENST00000423312.2_Missense_Mutation_p.P1476L Q9ULI4 KI26A_HUMAN kinesin family member 26A 1476 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) ACACACGGTCCAGCTCCCGCC 0.736000 8 10 0 0 0.004482 0 0 HTRA4 203100 broad.mit.edu 37 8 38839222 38839222 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:38839222C>T ENST00000302495.4 + 6 1150 c.1050C>T c.(1048-1050)tcC>tcT p.S350S NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 350 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) ATGGAATCTCCTTTGCAATTC 0.428000 36 84 0 0 0.005524 0 0 ZNF195 7748 broad.mit.edu 37 11 3380722 3380722 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:3380722A>C ENST00000354599.6 - 4 1404 c.1300T>G c.(1300-1302)Tta>Gta p.L434V ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.L487V|ZNF195_ENST00000429541.2_Missense_Mutation_p.L438V|ZNF195_ENST00000399602.4_Missense_Mutation_p.L506V|ZNF195_ENST00000005082.9_Missense_Mutation_p.L483V|ZNF195_ENST00000343338.7_Missense_Mutation_p.L438V NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGTCTGATAACTGCTTAAAG 0.408000 53 101 0 0 0.003610 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55331457 55331457 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55331457C>T ENST00000391728.4 + 4 678 c.645C>T c.(643-645)atC>atT p.I215I KIR3DL1_ENST00000326542.7_Silent_p.I215I|KIR3DL1_ENST00000358178.4_Silent_p.I120I|KIR3DL1_ENST00000541392.1_Silent_p.I215I|KIR3DL1_ENST00000538269.1_Silent_p.I215I|KIR3DL1_ENST00000402254.2_Silent_p.I215I NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CCCTGGACATCGTGGTCACAG 0.527000 44 24 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82785564 82785564 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:82785564G>A ENST00000423517.2 - 2 730 c.393C>T c.(391-393)tcC>tcT p.S131S PCLO_ENST00000333891.8_Silent_p.S131S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 131 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 AGCTAATAGTGGAAGGACTCC 0.478000 30 65 0 0 0.002836 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16535405 16535405 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:16535405C>T ENST00000270747.3 - 2 281 c.145G>A c.(145-147)Gac>Aac p.D49N ARHGEF19_ENST00000421561.1_Missense_Mutation_p.D49N NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 49 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|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;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GGGAAAAGGTCCAGACACACT 0.657000 17 26 0 0 0.007413 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454854 84454854 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:84454854C>T ENST00000377084.2 - 1 1674 c.789G>A c.(787-789)ttG>ttA p.L263L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 263 LRRCT 1. 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) CTCGGTTTTTCAAAGGACACA 0.557000 27 46 0 0 0.007291 0 0 CTHRC1 115908 broad.mit.edu 37 8 104388226 104388226 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:104388226G>A ENST00000415886.2 + 2 518 c.411G>A c.(409-411)aaG>aaA p.K137K CTHRC1_ENST00000330295.5_Intron|CTHRC1_ENST00000520337.1_Intron Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 0 collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) CAAGATTTAAGGGTTTTCATA 0.274000 4 11 0 0 0.000248 0 0 HTR1F 3355 broad.mit.edu 37 3 88040765 88040765 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:88040765G>A ENST00000319595.4 + 1 920 c.866G>A c.(865-867)cGg>cAg p.R289Q NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 289 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) ACAAGAGAACGGAAAGCAGCC 0.378000 20 21 0 0 0.003330 0 0 OR8K3 219473 broad.mit.edu 37 11 56086403 56086403 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56086403G>A ENST00000312711.1 + 1 621 c.621G>A c.(619-621)ttG>ttA p.L207L NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CTATTGATTTGATTTCATCTC 0.363000 15 37 0 0 0.003163 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677649 37677649 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:37677649G>A ENST00000532828.2 - 5 1041 c.790C>T c.(790-792)Cat>Tat p.H264Y ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.H209Y|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 264 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) TCGCCTGTATGGATTTTCTGA 0.423000 78 118 0 0 0.003610 0 0 PALLD 23022 broad.mit.edu 37 4 169433541 169433541 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:169433541G>A ENST00000261509.6 + 2 1097 c.886G>A c.(886-888)Gga>Aga p.G296R PALLD_ENST00000333488.4_Missense_Mutation_p.G173R|PALLD_ENST00000505667.1_Missense_Mutation_p.G296R|PALLD_ENST00000335742.7_5'UTR NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 296 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TAGAGTCACTGGAAACCCCAC 0.453000 Pancreatic Cancer, Familial Clustering of 14 30 0 0 0.003163 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100441971 100441971 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:100441971G>A ENST00000279907.7 - 18 3934 c.3722C>T c.(3721-3723)tCc>tTc p.S1241F UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S891F NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1241 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TTTCTGATCGGAACCTAAGGA 0.318000 10 45 0 0 0.001368 0 0 BRDT 676 broad.mit.edu 37 1 92470044 92470044 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:92470044C>T ENST00000370389.2 + 17 3167 c.2243C>T c.(2242-2244)tCc>tTc p.S748F BRDT_ENST00000394530.3_Missense_Mutation_p.S775F|BRDT_ENST00000362005.3_Missense_Mutation_p.S821F|BRDT_ENST00000399546.2_Missense_Mutation_p.S821F|BRDT_ENST00000402388.1_Missense_Mutation_p.S821F NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GTAATGAAATCCTCAGATGAG 0.358000 46 70 0 0 0.003610 0 0 LRRC30 339291 broad.mit.edu 37 18 7231809 7231809 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:7231809C>T ENST00000383467.2 + 1 687 c.673C>T c.(673-675)Ccg>Tcg p.P225S NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 225 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 CCACTCCTTCCCGAGGTCGCT 0.582000 16 35 0 0 0.004007 0 0 CSMD3 114788 broad.mit.edu 37 8 113960050 113960050 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:113960050C>T ENST00000297405.5 - 9 1721 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K CSMD3_ENST00000455883.2_Missense_Mutation_p.E389K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E493K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E453K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 493 Sushi 2. 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 TTCCCATTTTCTGGTTCTCCT 0.299000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 45 0 0 0.001882 0 0 MROH8 140699 broad.mit.edu 37 20 35749321 35749321 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:35749321C>T ENST00000400441.3 - 16 2094 c.2095G>A c.(2095-2097)Gga>Aga p.G699R MROH8_ENST00000217333.8_Missense_Mutation_p.G528R|MROH8_ENST00000441008.2_Missense_Mutation_p.G685R maestro heat-like repeat family member 8 AGAAATAGTCCCTGAAGATGG 0.433000 14 42 0 0 0.004990 0 0 NMBR 4829 broad.mit.edu 37 6 142409430 142409430 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:142409430G>A ENST00000258042.1 - 1 506 c.366C>T c.(364-366)atC>atT p.I122I RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 122 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AAGTGAGCTGGATGACAGGGA 0.587000 22 32 0 0 0.002299 0 0 MACF1 23499 broad.mit.edu 37 1 39802074 39802074 + Missense_Mutation SNP C C T rs3116394 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:39802074C>T ENST00000564288.1 + 37 10591 c.9814C>T c.(9814-9816)Cca>Tca p.P3272S MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P1712S|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P3277S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P3309S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3277 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) ATCCTTTCTTCCAGAGAAACT 0.428000 37 54 0 0 0.005524 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27536471 27536471 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:27536471C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CTTGTCAGGCCCCTGCTCTAT 0.547000 4 19 0 0 0.000248 0 0 OBSCN 84033 broad.mit.edu 37 1 228466964 228466964 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228466964C>T ENST00000570156.2 + 32 8576 c.8502C>T c.(8500-8502)ccC>ccT p.P2834P OBSCN_ENST00000359599.6_Silent_p.P1252P|OBSCN_ENST00000422127.1_Silent_p.P2405P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.P2405P|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1834 Ig-like 28. 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) CCTCCATCCCCTCAGTGCGGC 0.642000 38 56 0 0 0.005524 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492517 74492517 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:74492517G>A ENST00000354431.4 - 8 2046 c.1855C>T c.(1855-1857)Ccc>Tcc p.P619S LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 619 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGTCCATTGGGAACTTTAAAG 0.289000 22 40 0 0 0.005443 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1147087 1147087 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:1147087G>A ENST00000379236.3 - 6 764 c.760C>T c.(760-762)Cct>Tct p.P254S NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 254 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACTCACCAGGGGGCTTGTGG 0.697000 8 11 0 0 0.003080 0 0 LMO4 8543 broad.mit.edu 37 1 87805770 87805770 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:87805770G>T ENST00000370544.5 + 4 1154 c.374G>T c.(373-375)gGa>gTa p.G125V LMO4_ENST00000370542.1_Missense_Mutation_p.G125V|LMO4_ENST00000489303.1_3'UTR NM_006769.3 NP_006760.1 P61968 LMO4_HUMAN LIM domain only 4 125 LIM zinc-binding 2. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1) 9 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) CTGGTCCCGGGAGATCGGTTT 0.413000 45 83 2.31418e-15 2.58448e-15 0.003610 1 0 IPO13 9670 broad.mit.edu 37 1 44433324 44433324 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:44433324C>T ENST00000372343.3 + 20 3524 c.2862C>T c.(2860-2862)ctC>ctT p.L954L IPO13_ENST00000372339.3_Silent_p.L172L NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 954 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GCCGGGGTCTCCATGGCACAG 0.557000 11 31 0 0 0.000978 0 0 FAM98C 147965 broad.mit.edu 37 19 38893812 38893812 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38893812G>A ENST00000252530.5 + 1 38 c.19G>A c.(19-21)Gaa>Aaa p.E7K FAM98C_ENST00000343358.7_Missense_Mutation_p.E7K|FAM98C_ENST00000588262.1_Missense_Mutation_p.E7K NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 7 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGTGAAGGCGGAAGCGTGGGA 0.726000 10 20 0 0 0.008291 0 0 CADPS 8618 broad.mit.edu 37 3 62535633 62535633 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:62535633T>C ENST00000383710.4 - 11 2260 c.1911A>G c.(1909-1911)aaA>aaG p.K637K CADPS_ENST00000357948.3_Silent_p.K637K|CADPS_ENST00000283269.9_Silent_p.K637K NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 637 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGGCGTTGAGTTTCTGGACTT 0.507000 53 78 0 0 0.003610 0 0 FLNC 2318 broad.mit.edu 37 7 128475585 128475585 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:128475585G>A ENST00000325888.8 + 2 819 c.558G>A c.(556-558)caG>caA p.Q186Q FLNC_ENST00000346177.6_Silent_p.Q186Q NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 186 Actin-binding.|CH 2. 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 GTGACTGGCAGGACGGCAAAG 0.627000 20 37 0 0 0.001523 0 0 CR1L 1379 broad.mit.edu 37 1 207874891 207874891 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:207874891C>T ENST00000508064.2 + 9 1316 c.1256C>T c.(1255-1257)cCa>cTa p.P419L CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 419 Sushi 7. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCTCCAGTTCCAGTGAATGGC 0.443000 28 53 0 0 0.002836 0 0 AHNAK 79026 broad.mit.edu 37 11 62287735 62287735 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:62287735G>A ENST00000378024.4 - 5 14428 c.14154C>T c.(14152-14154)gcC>gcT p.A4718A AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4718 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGATCTTGGGGGCTTTGATGC 0.483000 50 160 0 0 0.003610 0 0 R3HDM2 22864 broad.mit.edu 37 12 57660556 57660556 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57660556G>A ENST00000402412.1 - 19 2479 c.2089C>T c.(2089-2091)Ccc>Tcc p.P697S R3HDM2_ENST00000393811.2_Missense_Mutation_p.P410S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P683S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P717S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P683S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P410S|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P378S|RP11-123K3.4_ENST00000548184.1_RNA Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 683 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CAGGGAGAGGGAGACTGAGGC 0.547000 9 27 0 0 0.004482 0 0 OR1D4 653166 broad.mit.edu 37 17 3144402 3144402 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:3144402C>T ENST00000531680.1 + 0 433 NR_033795.1 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) TGTCTTGCTCCTCTCCTTGTG 0.577000 6 7 0 0 0.003080 0 0 MYO5B 4645 broad.mit.edu 37 18 47480796 47480796 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:47480796C>T ENST00000285039.7 - 13 1854 c.1555G>A c.(1555-1557)Gga>Aga p.G519R NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 519 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) TGGTCAGTTCCTTTGGGGACC 0.577000 27 36 0 0 0.005443 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363157 22363157 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:22363157G>A ENST00000390438.2 + 0 416 TCCACCTGACGAAACCCTCAG 0.507000 29 49 0 0 0.002445 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249238 90249238 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:90249238C>T ENST00000468879.1 + 0 375 CCAGCAAAAGCCCCTAAGCTC 0.502000 30 111 0 0 0.002445 0 0 RAD21 5885 broad.mit.edu 37 8 117874126 117874126 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:117874126A>G ENST00000297338.2 - 4 615 c.328T>C c.(328-330)Tta>Cta p.L110L RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 110 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TCTTCAGGTAAAGTAATGGCA 0.368000 48 102 0 0 0.003610 0 0 MAP3K19 80122 broad.mit.edu 37 2 135782196 135782196 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:135782196C>T ENST00000375845.3 - 1 52 c.22_splice c.e1+1 p.E8_splice MAP3K19_ENST00000392917.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000375844.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000392918.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000358371.4_Splice_Site_p.E8_splice NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 AAGTATTTACCTGGTTTTGGC 0.328000 19 89 0 0 0.002299 0 0 CASP7 840 broad.mit.edu 37 10 115481443 115481443 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:115481443C>T ENST00000369321.2 + 5 700 c.380C>T c.(379-381)gCc>gTc p.A127V CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Missense_Mutation_p.A69V|CASP7_ENST00000369331.4_Missense_Mutation_p.A94V|CASP7_ENST00000369318.3_Missense_Mutation_p.A94V|CASP7_ENST00000369315.1_Missense_Mutation_p.A94V|CASP7_ENST00000345633.4_Missense_Mutation_p.A94V NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 94 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) GACAAAGATGCCGAGGCGCTC 0.502000 18 77 0 0 0.001523 0 0 MERTK 10461 broad.mit.edu 37 2 112777026 112777026 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:112777026G>A ENST00000295408.4 + 16 2373 c.2116G>A c.(2116-2118)Gat>Aat p.D706N MERTK_ENST00000409780.1_Missense_Mutation_p.D530N|MERTK_ENST00000421804.2_Missense_Mutation_p.D706N Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 706 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTTCATGGTGGATATTGCCCT 0.413000 69 73 0 0 0.003610 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179548090 179548090 + Silent SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:179548090C>G ENST00000393371.2 - 6 1070 c.774G>C c.(772-774)ctG>ctC p.L258L RASGEF1C_ENST00000361132.4_Silent_p.L258L|RASGEF1C_ENST00000522500.1_Silent_p.L107L|RASGEF1C_ENST00000519883.1_5'UTR Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 258 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-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) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGTAGCACAGCCTGTTGA 0.582000 9 42 0 0 0.006214 0 0 ADCY8 114 broad.mit.edu 37 8 131916183 131916183 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:131916183G>A ENST00000286355.5 - 7 3838 c.1746C>T c.(1744-1746)atC>atT p.I582I ADCY8_ENST00000377928.3_Silent_p.I582I NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 582 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) AGTAAGTTTCGATATTATGCT 0.478000 HNSCC(32;0.087) 32 79 0 0 0.002096 0 0 TPD52L1 7164 broad.mit.edu 37 6 125550273 125550273 + Missense_Mutation SNP G G A rs139731274 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:125550273G>A ENST00000534000.1 + 3 441 c.145G>A c.(145-147)Gaa>Aaa p.E49K TPD52L1_ENST00000528193.1_Missense_Mutation_p.E49K|TPD52L1_ENST00000527711.1_Missense_Mutation_p.E49K|TPD52L1_ENST00000368402.5_Missense_Mutation_p.E49K|TPD52L1_ENST00000392482.2_Missense_Mutation_p.E20K|TPD52L1_ENST00000368388.2_Missense_Mutation_p.E49K|TPD52L1_ENST00000304877.13_Missense_Mutation_p.E49K|TPD52L1_ENST00000534199.1_Missense_Mutation_p.E20K|TPD52L1_ENST00000532429.1_Missense_Mutation_p.E20K|TPD52L1_ENST00000524679.1_Missense_Mutation_p.E20K NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 49 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) GCTAGAAGACGAAATTACAAC 0.418000 17 17 0 0 0.007413 0 0 DNAH5 1767 broad.mit.edu 37 5 13793798 13793798 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:13793798C>T ENST00000265104.4 - 49 8154 c.8050G>A c.(8050-8052)Gga>Aga p.G2684R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2684 AAA 3 (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) TTATAGAATCCATTTTGTTCC 0.458000 Kartagener syndrome 31 82 0 0 0.001786 0 0 GPR50-AS1 100128688 broad.mit.edu 37 X 150345099 150345099 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:150345099C>T ENST00000454196.1 - 0 541 GGCACGCTTTCCTGGAGCTCC 0.582000 15 5 0 0 0.002450 0 0 DPYD 1806 broad.mit.edu 37 1 98039412 98039412 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:98039412C>T ENST00000370192.3 - 11 1343 c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 415 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTTCCAGTTTCATCTTGCTCT 0.438000 34 68 0 0 0.002836 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209218643 209218643 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:209218643C>T ENST00000264380.4 + 40 6024 c.5866C>T c.(5866-5868)Ctt>Ttt p.L1956F NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1956 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 GAAGGGCTCTCTTAGGAATCG 0.353000 27 34 0 0 0.005443 0 0 CALCR 799 broad.mit.edu 37 7 93090156 93090156 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:93090156C>T ENST00000359558.2 - 10 1026 c.727G>A c.(727-729)Gga>Aga p.G243R CALCR_ENST00000394441.1_Missense_Mutation_p.G209R|CALCR_ENST00000426151.1_Missense_Mutation_p.G209R|CALCR_ENST00000421592.1_Missense_Mutation_p.G225R|CALCR_ENST00000360249.4_Missense_Mutation_p.G225R NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 225 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ACGAGCTCTCCATTGGGTACT 0.398000 27 69 0 0 0.006320 0 0 COL4A4 1286 broad.mit.edu 37 2 227917128 227917128 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:227917128C>T ENST00000396625.3 - 32 3068 c.2860_splice c.e32-1 p.G954_splice COL4A4_ENST00000329662.7_Splice_Site_p.G954_splice NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 954 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) TCCTATGGCTCCTATGGATAT 0.423000 23 33 0 0 0.002780 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900216 151900216 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:151900216G>A ENST00000393900.3 - 3 938 c.585C>T c.(583-585)atC>atT p.I195I MAGEA12_ENST00000393869.3_Silent_p.I195I|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 195 MAGE. p.I195I(1) 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) TCTTGGGCACGATCTGATTGT 0.577000 48 78 0 0 0.003610 0 0 CYP2C18 1562 broad.mit.edu 37 10 96448013 96448013 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:96448013G>A ENST00000285979.6 + 3 662 c.463G>A c.(463-465)Gag>Aag p.E155K CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E155K 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) CCTTGTGGAGGAGTTGAGAAA 0.408000 23 89 0 0 0.003954 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337726 94337726 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:94337726G>A ENST00000436063.2 - 5 2026 c.1969C>T c.(1969-1971)Ctg>Ttg p.L657L NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TCATTTTTCAGTTCATTTGTC 0.378000 78 136 0 0 0.003610 0 0 SLC25A37 51312 broad.mit.edu 37 8 23428980 23428980 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:23428980C>T ENST00000519973.1 + 4 827 c.629C>T c.(628-630)cCc>cTc p.P210L NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 210 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) ATGAACATCCCCTTCCAGTCC 0.612000 23 37 0 0 0.004656 0 0 LRP2 4036 broad.mit.edu 37 2 170115698 170115698 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:170115698C>T ENST00000263816.3 - 17 2635 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K LRP2_ENST00000443831.1_Missense_Mutation_p.E647K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 784 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) TCAACATTTTCCACCCTGTTA 0.338000 20 59 0 0 0.002299 0 0 IMPG1 3617 broad.mit.edu 37 6 76744366 76744366 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:76744366G>A ENST00000369963.3 - 2 395 c.206C>T c.(205-207)tCc>tTc p.S69F IMPG1_ENST00000369950.3_Missense_Mutation_p.S147F Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 147 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GTGCTCCTGGGAATTGCTGAA 0.527000 26 61 0 0 0.007291 0 0 CASQ2 845 broad.mit.edu 37 1 116311134 116311134 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:116311134C>T ENST00000261448.5 - 1 268 c.29G>A c.(28-30)gGg>gAg p.G10E CASQ2_ENST00000456138.2_Missense_Mutation_p.G10E NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 10 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AAAATAAATCCCCACAATAAA 0.438000 15 25 0 0 0.004007 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249106304 249106304 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:249106304G>A ENST00000366472.5 - 7 2206 c.977C>T c.(976-978)cCc>cTc p.P326L SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.P294L NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 326 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GTCGGGGGCGGGGCCGGGCCC 0.711000 23 35 0 0 0.004656 0 0 FBXL16 146330 broad.mit.edu 37 16 746997 746997 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:746997G>A ENST00000397621.1 - 2 740 c.409C>T c.(409-411)Ctc>Ttc p.L137F FBXL16_ENST00000324361.5_Missense_Mutation_p.L137F NM_153350.3 NP_699181.2 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 137 F-box. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) ACCGGCGTGAGGCCTGCCCAG 0.632000 15 22 0 0 0.004007 0 0 ATL2 64225 broad.mit.edu 37 2 38527436 38527436 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:38527436G>A ENST00000378954.4 - 10 1107 c.1106C>T c.(1105-1107)cCa>cTa p.P369L ATL2_ENST00000406122.1_Missense_Mutation_p.P198L|ATL2_ENST00000539122.1_Missense_Mutation_p.P198L|ATL2_ENST00000546051.1_Missense_Mutation_p.P198L|ATL2_ENST00000452935.2_Missense_Mutation_p.P351L|ATL2_ENST00000419554.2_Missense_Mutation_p.P369L|ATL2_ENST00000332337.4_Missense_Mutation_p.P351L|ATL2_ENST00000402054.1_Missense_Mutation_p.P198L NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 369 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 CTTTGGATGTGGAAGTTCTTC 0.373000 16 36 0 0 0.006122 0 0 DLK1 8788 broad.mit.edu 37 14 101198519 101198519 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:101198519G>A ENST00000341267.4 + 4 645 c.404_splice c.e4+1 p.G135_splice DLK1_ENST00000331224.6_Splice_Site_p.G135_splice NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 135 EGF-like 4. multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) TGTGATCAACGGGTAAATATC 0.542000 22 49 0 0 0.005443 0 0 SLC22A3 6581 broad.mit.edu 37 6 160828194 160828194 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:160828194G>A ENST00000392145.1 + 3 682 c.655G>A c.(655-657)Gga>Aga p.G219R SLC22A3_ENST00000275300.2_Missense_Mutation_p.G219R O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 219 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) AGGTGTATTTGGAAAGGGGAC 0.478000 48 105 0 0 0.003610 0 0 ZYX 7791 broad.mit.edu 37 7 143079436 143079436 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:143079436G>A ENST00000322764.5 + 3 649 c.304G>A c.(304-306)Gaa>Aaa p.E102K ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Missense_Mutation_p.E46K NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 102 Pro-rich. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) CCCGATCGAGGAATCATTTCC 0.697000 17 15 0 0 0.006122 0 0 CCDC7 221016 broad.mit.edu 37 10 32742280 32742280 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:32742280C>T ENST00000545067.1 + 3 584 c.288C>T c.(286-288)tcC>tcT p.S96S CCDC7_ENST00000535327.1_Silent_p.S96S|CCDC7_ENST00000277657.6_Silent_p.S96S|CCDC7_ENST00000362006.5_Silent_p.S96S|CCDC7_ENST00000539197.1_Silent_p.S96S|CCDC7_ENST00000537047.1_Silent_p.S96S Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 96 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) AGGTTGTTTCCACTTTGGAAG 0.269000 29 43 0 0 0.002445 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027988 150027988 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150027988G>A ENST00000343855.4 + 1 1051 c.495G>A c.(493-495)agG>agA p.R165R LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like TGGCCCAGAGGGAGAAGGGCT 0.652000 11 11 0 0 0.001855 0 0 RGPD4 285190 broad.mit.edu 37 2 108487252 108487252 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:108487252G>A ENST00000408999.3 + 20 2869 c.2792G>A c.(2791-2793)gGa>gAa p.G931E RGPD4_ENST00000354986.4_Missense_Mutation_p.G931E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 931 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCGGAACCAGGAAATCAAGAA 0.408000 113 142 0 0 0.003610 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140795153 140795153 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140795153C>T ENST00000398610.2 + 1 2411 c.2411C>T c.(2410-2412)cCt>cTt p.P804L PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGAAGTTTCCTATAGAGGAT 0.393000 7 33 0 0 0.001984 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616716 77616716 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:77616716C>T ENST00000521891.2 + 2 841 c.393C>T c.(391-393)atC>atT p.I131I ZFHX4_ENST00000518282.1_Silent_p.I131I|ZFHX4_ENST00000050961.6_Silent_p.I131I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.I131I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 131 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I131I(2) 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) CAGGGGAGATCGTTTACCAGC 0.493000 HNSCC(33;0.089) 25 57 0 0 0.003954 0 0 DOCK5 80005 broad.mit.edu 37 8 25156535 25156535 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:25156535T>C ENST00000276440.7 + 8 726 c.682T>C c.(682-684)Ttc>Ctc p.F228L DOCK5_ENST00000481100.1_Missense_Mutation_p.F228L NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 228 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CTATGTGAACTTCAAGAACTT 0.488000 5 26 0 0 0.000602 0 0 OGDH 4967 broad.mit.edu 37 7 44734097 44734097 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:44734097C>T ENST00000222673.5 + 12 1632 c.1590C>T c.(1588-1590)atC>atT p.I530I OGDH_ENST00000444676.1_Silent_p.I545I|OGDH_ENST00000439616.2_Silent_p.I380I|OGDH_ENST00000543843.1_Silent_p.I481I|OGDH_ENST00000449767.1_Silent_p.I526I|OGDH_ENST00000447398.1_Silent_p.I541I NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 530 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) ACAAGCAGATCCGCAAGCAGA 0.572000 19 45 0 0 0.007413 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869589 36869589 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:36869589G>A ENST00000279024.4 - 3 1215 c.944C>T c.(943-945)cCc>cTc p.P315L NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 315 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TTGAAATAAGGGAGTTTCCTT 0.522000 69 145 0 0 0.003610 0 0 MTOR 2475 broad.mit.edu 37 1 11187187 11187187 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:11187187A>T ENST00000361445.4 - 45 6307 c.6231T>A c.(6229-6231)gaT>gaA p.D2077E MTOR_ENST00000376838.1_Missense_Mutation_p.D282E NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2077 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 CCTCCATTAAATCTCGACCAT 0.488000 19 43 0 0 0.008871 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52991400 52991400 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:52991400G>A ENST00000371544.3 - 2 815 c.553C>T c.(553-555)Cca>Tca p.P185S ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P185S|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.P185S NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 185 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 AAGGAGCTTGGAATTTTTTTT 0.408000 95 151 0 0 0.003610 0 0 ZNF676 163223 broad.mit.edu 37 19 22362772 22362772 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:22362772G>A ENST00000397121.2 - 3 2064 c.1747C>T c.(1747-1749)Cat>Tat p.H583Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTCCAGTATGAATTTTCTTA 0.343000 12 28 0 0 0.000978 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218372 130218372 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:130218372G>A ENST00000276211.5 + 5 1084 c.739G>A c.(739-741)Gaa>Aaa p.E247K ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E235K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.E111K NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 247 Rho-GAP. 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 CCAATTCATTGAAAAACATGG 0.478000 16 11 0 0 0.004007 0 0 NWD1 284434 broad.mit.edu 37 19 16910856 16910856 + Missense_Mutation SNP G G A rs141442968 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:16910856G>A ENST00000524140.2 + 17 4037 c.3619G>A c.(3619-3621)Gtg>Atg p.V1207M NWD1_ENST00000339803.6_Missense_Mutation_p.V1072M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1207M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1165M|NWD1_ENST00000523826.1_Missense_Mutation_p.V1001M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1207M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1207 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TAGGTCCCGGGTGCCTGCACC 0.577000 20 31 0 0 0.008871 0 0 OR52B2 255725 broad.mit.edu 37 11 6191050 6191050 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6191050G>A ENST00000530810.1 - 1 588 c.507C>T c.(505-507)ccC>ccT p.P169P RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTAGGCAGAAGGGCAGCCGCT 0.502000 15 39 0 0 0.002450 0 0 FSIP2 401024 broad.mit.edu 37 2 186672204 186672204 + Silent SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:186672204A>C ENST00000343098.5 + 17 18438 c.18438A>C c.(18436-18438)acA>acC p.T6146T FSIP2_ENST00000424728.1_Silent_p.T6057T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CAGTTGCAACAGAGATCTCCC 0.323000 63 93 0 0 0.003610 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65288687 65288687 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:65288687C>T ENST00000284037.5 + 3 530 c.141C>T c.(139-141)acC>acT p.T47T ERBB2IP_ENST00000380938.2_Silent_p.T47T|ERBB2IP_ENST00000511297.1_Silent_p.T47T|ERBB2IP_ENST00000380935.1_Silent_p.T47T|ERBB2IP_ENST00000416865.2_Silent_p.T47T|ERBB2IP_ENST00000506030.1_Silent_p.T47T|ERBB2IP_ENST00000380943.2_Silent_p.T47T|ERBB2IP_ENST00000380939.2_Silent_p.T47T|ERBB2IP_ENST00000380936.1_Silent_p.T47T|ERBB2IP_ENST00000508515.1_Silent_p.T47T NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 47 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TTGAAAAAACCTTGGAGGAAC 0.353000 14 33 0 0 0.002450 0 0 PLXNA4 91584 broad.mit.edu 37 7 131831317 131831317 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:131831317C>T ENST00000359827.3 - 28 5969 c.5007G>A c.(5005-5007)ggG>ggA p.G1669G PLXNA4_ENST00000321063.4_Silent_p.G1669G Q9HCM2 PLXA4_HUMAN plexin A4 1669 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 CCATCTTGCTCCCCCGGTCCC 0.572000 111 202 0 0 0.003610 0 0 MAPT 4137 broad.mit.edu 37 17 44061192 44061192 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:44061192C>T ENST00000344290.5 + 6 1344 c.1022C>T c.(1021-1023)tCt>tTt p.S341F MAPT_ENST00000420682.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.S341F|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.S341F|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.S341F NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 341 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CGGGGCCCCTCTTTGGGAGAG 0.652000 34 61 0 0 0.003271 0 0 GGT7 2686 broad.mit.edu 37 20 33442402 33442402 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:33442402G>A ENST00000336431.5 - 10 1295 c.1251C>T c.(1249-1251)gcC>gcT p.A417A NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 417 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TGCTGGCCAGGGCTAATGCAA 0.552000 9 15 0 0 0.004482 0 0 PABPC1L 80336 broad.mit.edu 37 20 43545459 43545459 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:43545459C>T ENST00000255136.3 + 3 532 c.450C>T c.(448-450)gcC>gcT p.A150A PABPC1L_ENST00000217074.4_Silent_p.A150A|PABPC1L_ENST00000217073.2_Silent_p.A150A|PABPC1L_ENST00000537323.1_Silent_p.A150A NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 150 RRM 2. nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CCCATGAGGCCGCACAGCAGG 0.607000 36 135 0 0 0.006230 0 0 SERPINA6 866 broad.mit.edu 37 14 94770800 94770800 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:94770800G>A ENST00000341584.3 - 5 1319 c.1173C>T c.(1171-1173)ttC>ttT p.F391F NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 391 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGCTCCAGGTGAAGTGGTCGA 0.547000 15 61 0 0 0.003163 0 0 SCN11A 11280 broad.mit.edu 37 3 38888901 38888901 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:38888901C>T ENST00000302328.3 - 26 4858 c.4660G>A c.(4660-4662)Gat>Aat p.D1554N SCN11A_ENST00000456224.3_Missense_Mutation_p.D1516N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1554N NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1554 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) AGCAGGGAATCCCAACCTGCT 0.468000 8 63 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179635288 179635288 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179635288C>T ENST00000589042.1 - 35 8455 c.8231G>A c.(8230-8232)gGa>gAa p.G2744E TTN_ENST00000359218.5_Missense_Mutation_p.G2698E|TTN_ENST00000342175.6_Missense_Mutation_p.G2698E|TTN_ENST00000360870.5_Missense_Mutation_p.G2744E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2744E|TTN_ENST00000342992.6_Missense_Mutation_p.G2744E|TTN_ENST00000460472.2_Missense_Mutation_p.G2698E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2482 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) CAGCACAACTCCATTTTTGAT 0.413000 18 63 0 0 0.001523 0 0 NLRP11 204801 broad.mit.edu 37 19 56303782 56303782 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56303782G>A ENST00000443188.1 - 9 3108 c.2398C>T c.(2398-2400)Ctg>Ttg p.L800L NLRP11_ENST00000589824.2_Silent_p.L746L|NLRP11_ENST00000592953.1_Silent_p.L701L|NLRP11_ENST00000360133.3_Silent_p.L746L|NLRP11_ENST00000589093.1_Silent_p.L800L NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 800 ATP binding 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) GGGCTGAACAGAAGCACTCTT 0.478000 39 64 0 0 0.005524 0 0 PELO 53918 broad.mit.edu 37 5 52096558 52096558 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:52096558C>T ENST00000274311.2 + 2 1315 c.330C>T c.(328-330)ttC>ttT p.F110F ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 110 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) ACCGCCAGTTCACCCTGGCCA 0.597000 26 39 0 0 0.004656 0 0 PRODH2 58510 broad.mit.edu 37 19 36293158 36293158 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:36293158G>A ENST00000301175.3 - 10 1378 c.1361C>T c.(1360-1362)cCt>cTt p.P454L NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 454 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCATCCAGAGGAATGCCCAG 0.547000 39 79 0 0 0.008740 0 0 GGT5 2687 broad.mit.edu 37 22 24622120 24622120 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:24622120C>T ENST00000327365.4 - 8 1569 c.1153G>A c.(1153-1155)Ggg>Agg p.G385R GGT5_ENST00000418439.2_Missense_Mutation_p.G308R|GGT5_ENST00000398292.3_Missense_Mutation_p.G385R|GGT5_ENST00000263112.7_Missense_Mutation_p.G353R NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 385 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 GTGCCTGTCCCGTGGCCCCAG 0.692000 9 19 0 0 0.000978 0 0 DSG1 1828 broad.mit.edu 37 18 28914104 28914104 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:28914104G>A ENST00000257192.4 + 8 1156 c.944G>A c.(943-945)gGa>gAa p.G315E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 315 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGAAATGAAGGAAATTGGTTT 0.299000 47 46 0 0 0.003610 0 0 BCAS4 55653 broad.mit.edu 37 20 49458428 49458428 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:49458428C>T ENST00000358791.5 + 4 580 c.480C>T c.(478-480)tcC>tcT p.S160S BCAS4_ENST00000262591.5_Intron|BCAS4_ENST00000371608.2_Silent_p.S160S NM_017843.3 NP_060313.3 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 160 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 GGCTCCCCTCCTTCAGGAACG 0.667000 14 11 0 0 0.003163 0 0 CLCN1 1180 broad.mit.edu 37 7 143018932 143018932 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:143018932G>A ENST00000343257.2 + 5 774 c.687G>A c.(685-687)gtG>gtA p.V229V CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 229 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCATCCCCGTGGGGAAAGAGG 0.602000 20 25 0 0 0.001523 0 0 SCN9A 6335 broad.mit.edu 37 2 167134678 167134678 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:167134678C>T ENST00000303354.6 - 15 2832 c.2492G>A c.(2491-2493)gGa>gAa p.G831E AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.G831E|SCN9A_ENST00000409672.1_Missense_Mutation_p.G819E|SCN9A_ENST00000409435.1_Missense_Mutation_p.G830E Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 830 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) AACTGACAATCCTTCCACATC 0.353000 10 45 0 0 0.000978 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152399 133152399 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:133152399C>T ENST00000388996.4 - 11 1912 c.1492G>A c.(1492-1494)Gaa>Aaa p.E498K KCNQ3_ENST00000521134.1_Missense_Mutation_p.E378K|KCNQ3_ENST00000519445.1_Missense_Mutation_p.E498K NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 498 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCCCTGTCTTCCGCCATGGGG 0.612000 11 35 0 0 0.001368 0 0 TM9SF3 56889 broad.mit.edu 37 10 98325103 98325103 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:98325103G>A ENST00000371142.4 - 3 595 c.379C>T c.(379-381)Cat>Tat p.H127Y NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 127 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TACCAGTAATGATTTTTTATG 0.299000 38 133 0 0 0.004878 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269605 150269605 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150269605G>A ENST00000255945.2 + 3 622 c.447G>A c.(445-447)atG>atA p.M149I GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.M163I NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 149 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGTTTCATGATTCTCATAT 0.453000 26 38 0 0 0.003954 0 0 OR5P2 120065 broad.mit.edu 37 11 7817686 7817686 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7817686C>T ENST00000329434.2 - 1 834 c.804G>A c.(802-804)aaG>aaA p.K268K RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGACACCACCTTGTTCTGGT 0.488000 22 59 0 0 0.001523 0 0 MXRA5 25878 broad.mit.edu 37 X 3227926 3227926 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:3227926G>A ENST00000217939.6 - 7 8472 c.8318C>T c.(8317-8319)tCg>tTg p.S2773L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2773 Ig-like C2-type 12. 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) CTTCAGATGCGACTTATCCGG 0.562000 23 13 0 0 0.006320 0 0 SLIT2 9353 broad.mit.edu 37 4 20591326 20591326 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:20591326G>A ENST00000504154.1 + 30 3400 c.3148G>A c.(3148-3150)Gat>Aat p.D1050N SLIT2_ENST00000273739.5_Missense_Mutation_p.D1063N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1042N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1046N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1050 EGF-like 4. 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 CTGCCAGCACGATTCAAAGTG 0.483000 15 28 0 0 0.006122 0 0 LAMA5 3911 broad.mit.edu 37 20 60907633 60907633 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:60907633G>A ENST00000252999.3 - 27 3489 c.3423C>T c.(3421-3423)tcC>tcT p.S1141S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1141 Domain IV 1 (domain IV B). 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) AGGGGTGCAGGGAGAGCAGCC 0.711000 6 4 0 0 0.001984 0 0 CATSPER3 347732 broad.mit.edu 37 5 134344644 134344644 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:134344644C>T ENST00000282611.6 + 5 875 c.789C>T c.(787-789)ttC>ttT p.F263F NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 263 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCAACATGTTCGTGGGTGTGA 0.542000 32 47 0 0 0.002096 0 0 MKNK1 8569 broad.mit.edu 37 1 47034134 47034134 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:47034134A>C ENST00000371946.4 - 9 816 c.653T>G c.(652-654)tTg>tGg p.L218W MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_Missense_Mutation_p.L177W|MKNK1_ENST00000371944.4_Missense_Mutation_p.L82W|MKNK1_ENST00000428112.2_Missense_Mutation_p.L177W|MKNK1_ENST00000371945.4_Missense_Mutation_p.L177W NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 218 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) AGATTCACACAATATATTTTC 0.383000 30 34 0 0 0.003271 0 0 LPHN3 23284 broad.mit.edu 37 4 62775413 62775413 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:62775413C>T ENST00000512091.1 + 11 2566 c.1819C>T c.(1819-1821)Cgg>Tgg p.R607W LPHN3_ENST00000514996.1_Missense_Mutation_p.R607W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R675W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R607W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R607W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R675W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R675W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R607W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R607W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R607W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R675W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R675W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R675W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R675W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R607W Q9HAR2 LPHN3_HUMAN latrophilin 3 607 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.R607W(3) 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 TGTACAGCTTCGGAACTTGAC 0.512000 3 8 0 0 0.004672 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31121356 31121356 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:31121356C>T ENST00000304166.4 + 6 604 c.315C>T c.(313-315)tcC>tcT p.S105S ADCYAP1R1_ENST00000409489.1_Silent_p.S105S|ADCYAP1R1_ENST00000396211.2_Silent_p.S105S|ADCYAP1R1_ENST00000409363.1_Intron 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 105 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 ACAGTAACTCCTTAGATCTCT 0.493000 30 56 0 0 0.002445 0 0 OTOGL 283310 broad.mit.edu 37 12 80696435 80696435 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:80696435G>A ENST00000458043.2 + 27 3064 c.3058G>A c.(3058-3060)Gaa>Aaa p.E1020K OTOGL_ENST00000547103.1_Missense_Mutation_p.E1020K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTTTTTCTGGAAAACAAATC 0.294000 3 6 0 0 0.004672 0 0 HDC 3067 broad.mit.edu 37 15 50540490 50540490 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:50540490G>A ENST00000267845.3 - 10 1494 c.1092C>T c.(1090-1092)ttC>ttT p.F364F HDC_ENST00000543581.1_Intron NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 364 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) ACCGAATCACGAACCAGAGTT 0.522000 16 21 0 0 0.008871 0 0 OR10K1 391109 broad.mit.edu 37 1 158435686 158435686 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158435686C>T ENST00000289451.2 + 1 415 c.335C>T c.(334-336)tCc>tTc p.S112F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 112 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) TCCTCTCACTCCTTCCTGCTG 0.522000 55 108 0 0 0.003610 0 0 NNMT 4837 broad.mit.edu 37 11 114183152 114183152 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:114183152G>A ENST00000535401.1 + 5 1012 c.748G>A c.(748-750)Gaa>Aaa p.E250K NNMT_ENST00000541754.1_Missense_Mutation_p.E55K|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_Missense_Mutation_p.E55K|NNMT_ENST00000542647.1_Missense_Mutation_p.E55K|NNMT_ENST00000299964.3_Missense_Mutation_p.E250K P40261 NNMT_HUMAN nicotinamide N-methyltransferase 250 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) GGCCAACAACGAAGGACTTTT 0.512000 53 31 0 0 0.003610 0 0 FAM135B 51059 broad.mit.edu 37 8 139164304 139164304 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:139164304C>T ENST00000395297.1 - 13 2584 c.2414G>A c.(2413-2415)aGc>aAc p.S805N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 805 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) GGAACCTTGGCTCTTGCTGTG 0.522000 HNSCC(54;0.14) 21 73 0 0 0.008871 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336690 30336690 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:30336690C>T ENST00000375377.1 - 2 153 c.52G>A c.(52-54)Gac>Aac p.D18N NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 18 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 GCTGGGGGGTCTCTTGACAGC 0.597000 34 38 0 0 0.003271 0 0 USP29 57663 broad.mit.edu 37 19 57642699 57642699 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57642699G>A ENST00000254181.4 + 4 3110 c.2656G>A c.(2656-2658)Ggg>Agg p.G886R USP29_ENST00000598197.1_Missense_Mutation_p.G886R NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 886 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATGCACAATGGGATTTTTGA 0.463000 21 43 0 0 0.008871 0 0 ZNF836 162962 broad.mit.edu 37 19 52660188 52660188 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52660188C>T ENST00000322146.8 - 5 1269 c.748G>A c.(748-750)Gaa>Aaa p.E250K ZNF836_ENST00000597252.1_Missense_Mutation_p.E250K|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTGCCACATTCATTGCATTTG 0.408000 24 40 0 0 0.004656 0 0 TRIM36 55521 broad.mit.edu 37 5 114469656 114469656 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:114469656C>T ENST00000513154.1 - 8 1725 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K TRIM36_ENST00000282369.3_Missense_Mutation_p.E479K|TRIM36_ENST00000514154.1_Missense_Mutation_p.E324K Q9NQ86 TRI36_HUMAN tripartite motif containing 36 479 Fibronectin type-III. 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) CTACTGTTTTCCAAGTCTTGA 0.378000 17 63 0 0 0.006122 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077106 45077106 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:45077106C>T ENST00000296130.4 + 3 479 c.299C>T c.(298-300)tCg>tTg p.S100L CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.S58L NM_003278.2 NP_003269.2 P05452 TETN_HUMAN C-type lectin domain family 3, member B 100 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACTGCATCTCGCGCGGGGGC 0.637000 18 38 0 0 0.006122 0 0 GPR111 222611 broad.mit.edu 37 6 47649948 47649948 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:47649948C>T ENST00000398742.2 + 5 1498 c.1449C>T c.(1447-1449)ttC>ttT p.F483F GPR111_ENST00000507065.1_Silent_p.F483F|GPR111_ENST00000296862.1_Silent_p.F551F Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 551 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TGATTGTTTTCCATACCTTGC 0.463000 25 52 0 0 0.006320 0 0 STAB2 55576 broad.mit.edu 37 12 104157375 104157375 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:104157375G>A ENST00000388887.2 + 68 7798 c.7594G>A c.(7594-7596)Gac>Aac p.D2532N RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2532 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 ACCTTCCTACGACCCCTTCAC 0.478000 66 146 0 0 0.003610 0 0 ARMC2 84071 broad.mit.edu 37 6 109274371 109274371 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:109274371C>T ENST00000392644.4 + 13 1900 c.1732C>T c.(1732-1734)Ctg>Ttg p.L578L ARMC2_ENST00000368972.3_Silent_p.L413L NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 578 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TCAGCTGGATCTGCATTCCCA 0.552000 25 41 0 0 0.004656 0 0 CACNA1S 779 broad.mit.edu 37 1 201029892 201029892 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:201029892G>A ENST00000362061.3 - 26 3534 c.3308C>T c.(3307-3309)cCc>cTc p.P1103L CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1103L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1103 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) TGGGTTTTTGGGAATGTAGCA 0.537000 105 170 0 0 0.003610 0 0 SCEL 8796 broad.mit.edu 37 13 78130048 78130048 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:78130048G>A ENST00000535157.1 + 2 208 c.38G>A c.(37-39)gGa>gAa p.G13E SCEL_ENST00000377246.3_Missense_Mutation_p.G13E|SCEL_ENST00000349847.3_Missense_Mutation_p.G13E NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 13 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TCTCCCACAGGAAATGGTAAT 0.348000 26 51 0 0 0.002096 0 0 CRYGA 1418 broad.mit.edu 37 2 209025546 209025546 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:209025546C>T ENST00000304502.4 - 3 526 c.507G>A c.(505-507)cgG>cgA p.R169R NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) AATCGGTGACCCGTCTCAAAG 0.517000 26 54 0 0 0.004656 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174219 150174219 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150174219G>A ENST00000307271.3 + 5 1923 c.1349G>A c.(1348-1350)gGg>gAg p.G450E NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 450 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGCGGGACTGGGAAGAGTGCG 0.552000 32 68 0 0 0.004878 0 0 GDF2 2658 broad.mit.edu 37 10 48416410 48416410 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:48416410C>T ENST00000249598.1 - 1 443 c.284G>A c.(283-285)aGg>aAg p.R95K NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 95 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GGACGTGTACCTGTTGTACAG 0.582000 32 34 0 0 0.003271 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101448317 101448317 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:101448317C>T ENST00000554693.2 + 0 635 SNORD114-21_ENST00000606412.1_RNA ATTCCTGGATCAATGATGACC 0.383000 26 46 0 0 0.005443 0 0 COL3A1 1281 broad.mit.edu 37 2 189849944 189849944 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:189849944C>T ENST00000304636.3 + 3 474 c.304C>T c.(304-306)Caa>Taa p.Q102* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q102* NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 102 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) TCCTAATGGTCAAGGACCTCA 0.348000 23 30 0 0 0.002445 0 0 TMEM57 55219 broad.mit.edu 37 1 25824873 25824873 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:25824873C>T ENST00000374343.4 + 11 2090 c.1911C>T c.(1909-1911)tcC>tcT p.S637S TMEM57_ENST00000399766.3_Silent_p.S410S|TMEM57_ENST00000399763.3_Silent_p.S279S NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 637 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) GCCCTGTTTCCCCCCACTACT 0.532000 37 74 0 0 0.006230 0 0 ALAD 210 broad.mit.edu 37 9 116154442 116154442 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:116154442G>A ENST00000409155.3 - 3 317 c.121C>T c.(121-123)Cct>Tct p.P41S ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Intron NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 41 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) ATGTCATCAGGAACATCCCTG 0.612000 15 13 0 0 0.003163 0 0 VANGL2 57216 broad.mit.edu 37 1 160389330 160389330 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:160389330C>T ENST00000368061.2 + 4 1205 c.731C>T c.(730-732)cCt>cTt p.P244L VANGL2_ENST00000483408.1_3'UTR NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 244 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGCTCCAGCCTCAGTTCACG 0.642000 20 35 0 0 0.001882 0 0 SOCS4 122809 broad.mit.edu 37 14 55510448 55510448 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:55510448C>T ENST00000395472.2 + 2 1021 c.689C>T c.(688-690)tCc>tTc p.S230F SOCS4_ENST00000555846.1_Missense_Mutation_p.S230F|SOCS4_ENST00000339298.2_Missense_Mutation_p.S230F NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 230 intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 GATATGGATTCCGATGATGAA 0.393000 17 39 0 0 0.004007 0 0 AE000661.37 0 broad.mit.edu 37 14 22934777 22934777 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:22934777G>A ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA AGGGATAGAAGGATATAAAAA 0.368000 16 34 0 0 0.003163 0 0 EPHA4 2043 broad.mit.edu 37 2 222294725 222294725 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:222294725G>A ENST00000281821.2 - 15 2684 c.2643C>T c.(2641-2643)ctC>ctT p.L881L EPHA4_ENST00000409938.1_Silent_p.L881L|EPHA4_ENST00000409854.1_Silent_p.L881L|EPHA4_ENST00000392071.4_Silent_p.L830L NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 881 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity 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) GGTTGCGGATGAGTTTGTCCA 0.512000 71 87 0 0 0.003610 0 0 ELMO1 9844 broad.mit.edu 37 7 37355536 37355536 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:37355536T>A ENST00000310758.4 - 3 754 c.107A>T c.(106-108)gAa>gTa p.E36V ELMO1_ENST00000442504.1_Missense_Mutation_p.E36V|ELMO1_ENST00000448602.1_Missense_Mutation_p.E36V NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 36 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 ATCACAGACTTCCTTTATTAT 0.279000 39 244 0 0 0.002852 0 0 SCG3 29106 broad.mit.edu 37 15 51993416 51993416 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:51993416A>G ENST00000220478.3 + 10 1585 c.1182A>G c.(1180-1182)ccA>ccG p.P394P SCG3_ENST00000542355.2_Silent_p.P162P NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 394 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) ACTCCAACCCAGGAGGAAAGA 0.433000 25 54 0 0 0.003954 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991338 35991338 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:35991338A>G ENST00000274278.3 - 1 362 c.5T>C c.(4-6)gTt>gCt p.V2A UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V2A|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V2A NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 2 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) CCGCTGCCCAACCATGCTCAC 0.597000 31 54 0 0 0.002096 0 0 C10orf12 26148 broad.mit.edu 37 10 98743264 98743264 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:98743264C>T ENST00000286067.2 + 1 2224 c.2117C>T c.(2116-2118)tCg>tTg p.S706L NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 706 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) CTTGGGTTGTCGAGTAGTGGA 0.507000 31 42 0 0 0.002836 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407308 38407308 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:38407308C>T ENST00000351773.3 + 8 2059 c.1229C>T c.(1228-1230)cCt>cTt p.P410L ZNF37A_ENST00000361085.4_Missense_Mutation_p.P410L NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 410 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 GGTGAAAAACCTTATGAATGT 0.393000 12 15 0 0 0.000978 0 0 ZAN 7455 broad.mit.edu 37 7 100349900 100349900 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:100349900C>T ENST00000542585.1 + 0 2320 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGAAAAACCCACCATCCCCA 0.512000 18 31 0 0 0.008871 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465421 77465421 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:77465421G>A ENST00000282849.5 - 3 684 c.266C>T c.(265-267)tCg>tTg p.S89L ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 89 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 ATTCTGCGCCGATCGCTTTTT 0.478000 57 179 0 0 0.003610 0 0 OR51B5 282763 broad.mit.edu 37 11 5364701 5364701 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5364701C>T ENST00000300773.2 - 1 108 c.54G>A c.(52-54)ttG>ttA p.L18L AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCTTCCTCCAAGCCTGGAA 0.428000 20 33 0 0 0.002299 0 0 TRIM24 8805 broad.mit.edu 37 7 138263977 138263977 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:138263977C>T ENST00000343526.4 + 15 2500 c.2285C>T c.(2284-2286)tCc>tTc p.S762F TRIM24_ENST00000415680.2_Missense_Mutation_p.S728F O15164 TIF1A_HUMAN tripartite motif containing 24 762 Nuclear receptor binding site (NRBS). S -> N. cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 ATACTCACCTCCCTGCTCTTA 0.393000 37 78 0 0 0.004878 0 0 CELSR2 1952 broad.mit.edu 37 1 109803663 109803663 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:109803663G>A ENST00000271332.3 + 3 4019 c.e3-1 NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTCTTGTCCAGGTGAGCACTG 0.607000 102 54 0 0 0.003610 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21794020 21794020 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:21794020G>A ENST00000206660.6 + 16 2398 c.2398G>A c.(2398-2400)Gag>Aag p.E800K RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E159K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E800K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E762K|RPGRIP1_ENST00000556336.1_Intron Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 800 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) ACCTCAGAACGAGCTGTGGAT 0.502000 10 22 0 0 0.006214 0 0 DCHS1 8642 broad.mit.edu 37 11 6651133 6651133 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6651133G>A ENST00000299441.3 - 11 5216 c.4805C>T c.(4804-4806)tCc>tTc p.S1602F NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1602 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) CCGCACCACGGACAGCGCTCC 0.652000 9 44 0 0 0.006214 0 0 CDH20 28316 broad.mit.edu 37 18 59157870 59157870 + Silent SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:59157870T>A ENST00000262717.4 + 2 482 c.84T>A c.(82-84)ctT>ctA p.L28L CDH20_ENST00000536675.2_Silent_p.L28L|CDH20_ENST00000538374.1_Silent_p.L28L Q9HBT6 CAD20_HUMAN cadherin 20, type 2 28 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TGATGGACCTTACGACCACCG 0.527000 35 32 0 0 0.002836 0 0 PIPSL 266971 broad.mit.edu 37 10 95721216 95721216 + RNA SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:95721216A>C ENST00000480546.1 - 0 81 NR_002319.2 TCAACGGAGAAAAACCGACCG 0.602000 12 54 0 0 0.001368 0 0 COL5A1 1289 broad.mit.edu 37 9 137717665 137717665 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:137717665G>A ENST00000371817.3 + 63 5396 c.4982G>A c.(4981-4983)gGa>gAa p.G1661E NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1661 Fibrillar collagen NC1. 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) CCTAACCAAGGATGCTCCAGG 0.562000 26 11 0 0 0.002445 0 0 UNC13C 440279 broad.mit.edu 37 15 54707217 54707217 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:54707217G>A ENST00000545554.1 + 18 4885 c.4885G>A c.(4885-4887)Gaa>Aaa p.E1629K UNC13C_ENST00000537900.1_Missense_Mutation_p.E1627K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E1629K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1629 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) AATAAGTGCCGAAATTATGTG 0.308000 27 31 0 0 0.007291 0 0 DGKI 9162 broad.mit.edu 37 7 137284650 137284650 + Splice_Site SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:137284650C>A ENST00000453654.1 - 11 808 c.267_splice c.e11-1 p.G90_splice DGKI_ENST00000288490.5_Splice_Site_p.G390_splice|DGKI_ENST00000446122.1_Splice_Site_p.G390_splice|DGKI_ENST00000424189.2_Splice_Site_p.G390_splice O75912 DGKI_HUMAN diacylglycerol kinase, iota 390 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 GACTTTGGTTCCCTGTAAAAA 0.333000 21 26 4.96729e-08 5.50298e-08 0.008871 1 0 WT1 7490 broad.mit.edu 37 11 32456300 32456300 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:32456300T>A ENST00000332351.3 - 1 876 c.592A>T c.(592-594)Aac>Tac p.N198Y WT1_ENST00000448076.3_Missense_Mutation_p.N198Y NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 130 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TAGGGCGCGTTAGGAAACATC 0.692000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 8 20 0 0 0.004482 0 0 NCF2 4688 broad.mit.edu 37 1 183529378 183529378 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:183529378C>T ENST00000413720.1 - 13 1460 c.1186G>A c.(1186-1188)Gaa>Aaa p.E396K NCF2_ENST00000418089.1_Missense_Mutation_p.E360K|NCF2_ENST00000367535.3_Missense_Mutation_p.E441K|NCF2_ENST00000367536.1_Missense_Mutation_p.E441K NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 441 OPR. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TTTTCACTTTCCTTGGGTTCA 0.438000 50 107 0 0 0.003610 0 0 NLRP10 338322 broad.mit.edu 37 11 7981544 7981544 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7981544G>A ENST00000328600.2 - 2 1776 c.1615C>T c.(1615-1617)Ccc>Tcc p.P539S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 539 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCTAAACAGGGAGAAATTCTG 0.418000 18 52 0 0 0.004990 0 0 NPY 4852 broad.mit.edu 37 7 24324907 24324907 + Silent SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:24324907G>T ENST00000407573.1 + 3 338 c.48G>T c.(46-48)ctG>ctT p.L16L NPY_ENST00000405982.1_Silent_p.L16L|NPY_ENST00000242152.2_Silent_p.L16L P01303 NPY_HUMAN neuropeptide Y 16 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity p.L16L(1) breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 CCCTCGCCCTGTCCCTGCTCG 0.657000 21 42 2.32416e-17 2.59874e-17 0.002299 1 0 MAATS1 89876 broad.mit.edu 37 3 119449180 119449180 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:119449180G>A ENST00000273390.5 + 8 1051 c.974G>A c.(973-975)gGa>gAa p.G325E NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CTGCAGGAGGGAAAAGAGGCA 0.443000 38 80 0 0 0.004878 0 0 HSPG2 3339 broad.mit.edu 37 1 22159032 22159032 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:22159032G>A ENST00000374695.3 - 81 11242 c.11163C>T c.(11161-11163)ccC>ccT p.P3721P NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3721 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGATGAAGTCGGGCTGCCGGT 0.662000 27 68 0 0 0.002096 0 0 OBSCN 84033 broad.mit.edu 37 1 228433370 228433370 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228433370C>T ENST00000570156.2 + 13 4088 c.4014C>T c.(4012-4014)tcC>tcT p.S1338S OBSCN_ENST00000422127.1_Silent_p.S1246S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1246S|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 322 Ig-like 13. 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) AGAGAGTCTCCTTTCAACTGC 0.537000 22 79 0 0 0.004656 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442633 22442633 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:22442633C>T ENST00000265810.4 + 4 534 c.419C>T c.(418-420)cCc>cTc p.P140L PDLIM2_ENST00000397760.4_Missense_Mutation_p.P140L|PDLIM2_ENST00000397761.2_Missense_Mutation_p.P140L|PDLIM2_ENST00000339162.7_Missense_Mutation_p.P140L|PDLIM2_ENST00000409417.1_Missense_Mutation_p.P140L|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409141.1_Missense_Mutation_p.P140L|PDLIM2_ENST00000308354.7_Missense_Mutation_p.P390L NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 140 Ser-rich. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) TCACCACCACCCTCTAGCAGC 0.642000 21 57 0 0 0.002299 0 0 SNRPB 6628 broad.mit.edu 37 20 2443294 2443294 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:2443294G>A ENST00000339610.6 - 7 891 c.436C>T c.(436-438)Cct>Tct p.P146S SNRPB_ENST00000438552.2_Missense_Mutation_p.P225S|SNRPB_ENST00000381342.2_Missense_Mutation_p.P225S P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 225 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 CGCATCCCAGGGGGAGGAGGC 0.572000 45 59 0 0 0.003610 0 0 ABT1 29777 broad.mit.edu 37 6 26598587 26598587 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:26598587C>T ENST00000274849.1 + 3 564 c.533C>T c.(532-534)gCc>gTc p.A178V NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 178 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity p.A178G(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 GTTGCTCAAGCCAAGCGTGAG 0.602000 35 42 0 0 0.002445 0 0 PLXNA2 5362 broad.mit.edu 37 1 208216535 208216535 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:208216535G>A ENST00000367033.3 - 21 4645 c.3888C>T c.(3886-3888)ctC>ctT p.L1296L NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1296 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) TATCCGTCTGGAGCTCAGCAA 0.552000 25 38 0 0 0.001786 0 0 RP1 6101 broad.mit.edu 37 8 55541555 55541555 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:55541555G>A ENST00000220676.1 + 4 5261 c.5113G>A c.(5113-5115)Gat>Aat p.D1705N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1705 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) AGATAAGTGTGATGTTAGTGC 0.408000 31 47 0 0 0.002836 0 0 SIRPG 55423 broad.mit.edu 37 20 1638336 1638336 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:1638336G>A ENST00000303415.3 - 1 89 c.25C>T c.(25-27)Cat>Tat p.H9Y SIRPG_ENST00000216927.4_Missense_Mutation_p.H9Y|SIRPG_ENST00000344103.4_Missense_Mutation_p.H9Y|SIRPG_ENST00000381583.2_Missense_Mutation_p.H9Y NM_018556.3 NP_061026.2 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 9 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 CCAGGAGGATGGGGCCAGGAG 0.557000 21 49 0 0 0.002780 0 0 SLC13A3 64849 broad.mit.edu 37 20 45221075 45221075 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:45221075C>T ENST00000279027.4 - 6 906 c.888G>A c.(886-888)tgG>tgA p.W296* SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.W246*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.W246* NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 296 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GGAAGGAGATCCAGAGCCAGC 0.502000 22 29 0 0 0.002780 0 0 IGDCC4 57722 broad.mit.edu 37 15 65685779 65685779 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:65685779G>A ENST00000352385.2 - 10 2014 c.1805C>T c.(1804-1806)tCg>tTg p.S602L NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 602 Fibronectin type-III 2. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TGTACCAGCCGAAATCCGTAC 0.552000 25 44 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179440123 179440123 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179440123C>T ENST00000589042.1 - 326 70960 c.70736G>A c.(70735-70737)tGg>tAg p.W23579* TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W14639*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W14706*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W21938*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W21011*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W14514* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21938 Fibronectin type-III 71. 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) GATGTGGGTCCACTGGTCAGA 0.512000 20 67 0 0 0.007413 0 0 PSMC5 5705 broad.mit.edu 37 17 61908868 61908868 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:61908868C>T ENST00000310144.6 + 10 1280 c.972C>T c.(970-972)gcC>gcT p.A324A PSMC5_ENST00000581882.1_Silent_p.A316A|PSMC5_ENST00000580864.1_Silent_p.A316A|PSMC5_ENST00000375812.4_Silent_p.A316A NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 324 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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 ATCTCCAGGCCCGGCTGGACA 0.567000 32 64 0 0 0.002836 0 0 WDHD1 11169 broad.mit.edu 37 14 55453880 55453880 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:55453880G>A ENST00000360586.3 - 14 1817 c.1752C>T c.(1750-1752)ttC>ttT p.F584F WDHD1_ENST00000420358.2_Silent_p.F461F|WDHD1_ENST00000359167.4_Silent_p.F102F|WDHD1_ENST00000421192.1_Silent_p.F461F NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 584 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 GATAAACAATGAAAAGCTGTT 0.378000 17 33 0 0 0.004007 0 0 FOXI1 2299 broad.mit.edu 37 5 169532974 169532974 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:169532974G>A ENST00000449804.2 + 1 58 c.13G>A c.(13-15)Gac>Aac p.D5N FOXI1_ENST00000306268.6_Missense_Mutation_p.D5N NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 5 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGCTCCTTCGACCTGCCGGC 0.697000 Pendred syndrome 7 4 0 0 0.001984 0 0 MMP27 64066 broad.mit.edu 37 11 102575304 102575304 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:102575304G>A ENST00000260229.4 - 2 396 c.305C>T c.(304-306)aCc>aTc p.T102I NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 102 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) CCCAGGGAGGGTGTAGCCATA 0.468000 34 34 0 0 0.002445 0 0 EZR 7430 broad.mit.edu 37 6 159188461 159188461 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:159188461G>A ENST00000367075.3 - 13 1596 c.1428C>T c.(1426-1428)ccC>ccT p.P476P EZR_ENST00000392177.4_Silent_p.P444P|EZR_ENST00000337147.7_Silent_p.P476P NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 476 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GCTCGTACACGGGGGGTGGTG 0.622000 T ROS1 NSCLC 29 62 0 0 0.003271 0 0 KIAA1407 57577 broad.mit.edu 37 3 113737698 113737698 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:113737698G>A ENST00000295878.3 - 8 1136 c.990C>T c.(988-990)ttC>ttT p.F330F KIAA1407_ENST00000545063.1_Silent_p.F161F NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 330 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCCAGGCAGCGAAATACCGTT 0.488000 10 166 0 0 0.001368 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798846 55798846 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55798846C>T ENST00000313555.1 + 1 952 c.952C>T c.(952-954)Cgt>Tgt p.R318C NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTATTTAAATCGTTTAAGAAT 0.264000 36 52 0 0 0.004878 0 0 GORAB 92344 broad.mit.edu 37 1 170513928 170513928 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:170513928G>A ENST00000367763.3 + 4 699 c.679G>A c.(679-681)Gac>Aac p.D227N GORAB_ENST00000367762.1_Missense_Mutation_p.D227N NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 227 Necessary for interaction with RCHY1. Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 GGTGTCAGCTGACATTGGAAT 0.433000 62 126 0 0 0.003610 0 0 ACSM4 341392 broad.mit.edu 37 12 7463176 7463176 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:7463176G>A ENST00000399422.4 + 3 502 c.454G>A c.(454-456)Gac>Aac p.D152N NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 152 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GACAGCAAAAGACATCCTCTA 0.562000 7 9 0 0 0.006214 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21792854 21792854 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:21792854G>A ENST00000206660.6 + 14 1840 c.1840G>A c.(1840-1842)Gat>Aat p.D614N RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Silent_p.R22R|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D614N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D576N|RPGRIP1_ENST00000556336.1_Intron Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 614 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TGGAGATGAGGATAAAGTGGA 0.502000 41 75 0 0 0.002522 0 0 MAD2L2 10459 broad.mit.edu 37 1 11735727 11735727 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:11735727G>A ENST00000235310.3 - 9 1417 c.489C>T c.(487-489)atC>atT p.I163I MAD2L2_ENST00000376669.5_Silent_p.I176I|MAD2L2_ENST00000376667.3_Silent_p.I163I|MAD2L2_ENST00000376692.4_Silent_p.I163I|MAD2L2_ENST00000376672.1_Silent_p.I176I Q9UI95 MD2L2_HUMAN MAD2 mitotic arrest deficient-like 2 (yeast) 163 HORMA.|Mediates interaction with ipaB. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGATGACCTGGATCTTCTCCA 0.617000 DNA polymerases (catalytic subunits) 51 81 0 0 0.003610 0 0 CTU2 348180 broad.mit.edu 37 16 88781504 88781504 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:88781504C>T ENST00000567949.1 + 14 1690 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C CTU2_ENST00000378384.3_Missense_Mutation_p.R403C|CTU2_ENST00000312060.5_Intron|CTU2_ENST00000453996.2_Missense_Mutation_p.R490C Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 490 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GGCCCAGCTCCGCACACAGAG 0.682000 9 23 0 0 0.004482 0 0 CYBB 1536 broad.mit.edu 37 X 37642818 37642818 + Nonsense_Mutation SNP C C T rs137854588 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:37642818C>T ENST00000378588.4 + 3 284 c.217C>T c.(217-219)Cga>Tga p.R73* CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R41*|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 73 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GCCAGTCTGTCGAAATCTGCT 0.498000 23 6 0 0 0.003330 0 0 ADH1B 125 broad.mit.edu 37 4 100232053 100232053 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:100232053C>T ENST00000305046.8 - 8 1039 c.972G>A c.(970-972)aaG>aaA p.K324K ADH1B_ENST00000394887.3_Silent_p.K284K P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 324 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CTTCTTTACTCTTAAAGCCTG 0.333000 49 68 0 0 0.003610 0 0 IGLV9-49 28773 broad.mit.edu 37 22 22697958 22697958 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:22697958C>T ENST00000427632.2 + 0 283 GGGATGGCATCCCTGATCGCT 0.557000 OREG0026357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 22 0 0 0.008291 0 0 LBP 3929 broad.mit.edu 37 20 36982741 36982741 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:36982741C>T ENST00000217407.2 + 4 587 c.426C>T c.(424-426)ctC>ctT p.L142L NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 142 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CGGTCAACCTCCTGTTGGGCA 0.572000 29 33 0 0 0.002445 0 0 GDF5 8200 broad.mit.edu 37 20 34025399 34025399 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:34025399G>A ENST00000374372.1 - 3 813 c.310C>T c.(310-312)Cct>Tct p.P104S GDF5_ENST00000374369.3_Missense_Mutation_p.P104S P43026 GDF5_HUMAN growth differentiation factor 5 104 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TTGGGTTCAGGGCCGCCCGGT 0.632000 19 72 0 0 0.008871 0 0 C2orf57 165100 broad.mit.edu 37 2 232458440 232458440 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:232458440G>A ENST00000313965.2 + 1 866 c.778G>A c.(778-780)Gac>Aac p.D260N NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 260 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) AAGGCCCCTGGACTCCAGCCT 0.647000 61 60 0 0 0.003610 0 0 LOXL1 4016 broad.mit.edu 37 15 74235199 74235199 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:74235199C>T ENST00000261921.7 + 2 1433 c.1107C>T c.(1105-1107)ctC>ctT p.L369L NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 369 protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 CTCCAGGTCTCCCTGACTTGG 0.582000 74 132 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179404460 179404460 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179404460C>T ENST00000589042.1 - 352 98556 c.98332G>A c.(98332-98334)Gaa>Aaa p.E32778K TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23838K|TTN_ENST00000342175.6_Missense_Mutation_p.E23905K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31137K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30210K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23713K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31137 Ig-like 145. 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) CATTTATTTTCCAGAACCAGG 0.463000 30 37 0 0 0.008361 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921472 12921472 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:12921472C>T ENST00000240189.2 + 4 1350 c.1263C>T c.(1261-1263)tcC>tcT p.S421S NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 421 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTTGAATTCCTTGGTTCGTG 0.547000 5 124 0 0 0.002780 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123216083 123216083 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:123216083G>A ENST00000349780.4 - 21 2623 c.2444C>T c.(2443-2445)tCt>tTt p.S815F CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S783F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S815F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S815F NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 815 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GTGTTCTCCAGAAACTTCCTG 0.433000 36 20 0 0 0.004289 0 0 LTBP4 8425 broad.mit.edu 37 19 41119848 41119848 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:41119848C>T ENST00000308370.7 + 21 2785 c.2785C>T c.(2785-2787)Ctt>Ttt p.L929F LTBP4_ENST00000396819.3_Missense_Mutation_p.L862F|LTBP4_ENST00000545697.1_Missense_Mutation_p.L382F|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L892F|LTBP4_ENST00000243562.9_Missense_Mutation_p.L27F NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 929 Cys-rich.|EGF-like 11; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGAGGAGGACCTTTGCCAGAG 0.677000 11 21 0 0 0.008291 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12979687 12979687 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:12979687C>T ENST00000361079.2 + 4 962 c.879C>T c.(877-879)tcC>tcT p.S293S PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 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;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) TCCAGGCCTCCTTGGAGATGG 0.547000 28 181 0 0 0.006999 0 0 LRRC7 57554 broad.mit.edu 37 1 70505117 70505117 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:70505117C>T ENST00000310961.5 + 22 3929 c.3511C>T c.(3511-3513)Ctg>Ttg p.L1171L LRRC7_ENST00000035383.5_Silent_p.L1166L|LRRC7_ENST00000415775.2_Silent_p.L450L Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1166 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 GTCCCAGTTCCTGAAAAGGAA 0.517000 33 49 0 0 0.003755 0 0 CFB 629 broad.mit.edu 37 6 31915744 31915744 + Silent SNP C C T rs113410938 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:31915744C>T ENST00000456570.1 + 18 2344 c.2289C>T c.(2287-2289)atC>atT p.I763I CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Silent_p.I261I|CFB_ENST00000477310.1_Silent_p.I612I|CFB_ENST00000556679.1_Silent_p.I763I P00751 CFAB_HUMAN complement factor B 261 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGCGGAAGATCGTCCTGGACC 0.542000 107 214 0 0 0.003610 0 0 C12orf40 283461 broad.mit.edu 37 12 40078679 40078679 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:40078679C>T ENST00000324616.5 + 10 1451 c.1297C>T c.(1297-1299)Cct>Tct p.P433S C12orf40_ENST00000405531.3_Missense_Mutation_p.P433S NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 433 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 GGGAAATATACCTTCGGAAGA 0.373000 14 32 0 0 0.003163 0 0 MGAT3 4248 broad.mit.edu 37 22 39884672 39884672 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:39884672C>T ENST00000341184.6 + 2 1535 c.1320C>T c.(1318-1320)ttC>ttT p.F440F NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 440 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) ATGGCGACTTCCCACGCTGGG 0.672000 14 30 0 0 0.003163 0 0 OLAH 55301 broad.mit.edu 37 10 15107690 15107690 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:15107690G>A ENST00000378217.3 + 7 856 c.669G>A c.(667-669)aaG>aaA p.K223K OLAH_ENST00000378228.3_Silent_p.K170K|OLAH_ENST00000485251.1_3'UTR NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 170 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 CTGAAGCCAAGGAATTTGTGA 0.393000 8 36 0 0 0.006214 0 0 ZFP30 22835 broad.mit.edu 37 19 38126146 38126146 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38126146A>T ENST00000351218.2 - 6 1853 c.1296T>A c.(1294-1296)caT>caA p.H432Q ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.H432Q|ZFP30_ENST00000514101.2_Missense_Mutation_p.H432Q NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTCACCAAAATGAATACTCT 0.393000 8 43 0 0 0.003080 0 0 BUD13 84811 broad.mit.edu 37 11 116633647 116633647 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:116633647G>A ENST00000260210.4 - 4 681 c.658C>T c.(658-660)Cat>Tat p.H220Y BUD13_ENST00000375445.3_Intron NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 220 Arg-rich. 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) GGTGAATCATGACGGACTCTC 0.547000 249 150 0 0 0.003610 0 0 GRM3 2913 broad.mit.edu 37 7 86468884 86468884 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:86468884C>T ENST00000361669.2 + 4 3153 c.2054C>T c.(2053-2055)cCc>cTc p.P685L GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P557L|GRM3_ENST00000546348.1_Missense_Mutation_p.P277L NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 685 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTCATCAGCCCCAGTTCTCAG 0.537000 27 54 0 0 0.008361 0 0 CFAP54 144535 broad.mit.edu 37 12 97150262 97150262 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:97150262G>A ENST00000524981.3 + 24 3220 c.3220G>A c.(3220-3222)Gaa>Aaa p.E1074K Q6ZTY8 CL063_HUMAN 1048 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 AATACTAATGGAAGAGAAATC 0.303000 12 25 0 0 0.002450 0 0 SIDT1 54847 broad.mit.edu 37 3 113285348 113285348 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:113285348G>A ENST00000264852.4 + 2 1030 c.304G>A c.(304-306)Gag>Aag p.E102K SIDT1_ENST00000393830.3_Missense_Mutation_p.E102K NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 102 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CCAGCAGAAAGAGGTGCTGTC 0.493000 47 39 0 0 0.003610 0 0 FAM178A 55719 broad.mit.edu 37 10 102689755 102689755 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:102689755G>A ENST00000238961.3 + 8 2481 c.e8+1 FAM178A_ENST00000370269.3_Splice_Site NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A TTATTCTTAAGTAAGTAGAAA 0.264000 9 26 0 0 0.004482 0 0 ZNF733P 643955 broad.mit.edu 37 7 62751994 62751994 + RNA SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:62751994T>A ENST00000331425.6 - 0 1441 NR_003952.1 TTTGTAGGGTTTCTCTCCAGT 0.393000 7 29 0 0 0.008291 0 0 VWF 7450 broad.mit.edu 37 12 6173516 6173516 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:6173516G>A ENST00000261405.5 - 12 1582 c.1328C>T c.(1327-1329)tCc>tTc p.S443F NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 443 VWFD 2. 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) GACGGTGACGGAGCGGGTGCA 0.642000 9 24 0 0 0.008291 0 0 SPTA1 6708 broad.mit.edu 37 1 158592810 158592810 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158592810C>T ENST00000368148.3 - 43 6263 c.6083G>A c.(6082-6084)aGa>aAa p.R2028K SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2025K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2028 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) CAATTTCTGTCTGTGGACTGC 0.458000 83 140 0 0 0.003610 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013840 117013840 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:117013840C>T ENST00000306985.4 + 2 247 c.93C>T c.(91-93)atC>atT p.I31I MAP1LC3B2_ENST00000556529.1_Silent_p.I31I NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 31 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 CAACCAAAATCCCGGTGATAA 0.483000 33 72 0 0 0.003271 0 0 SEZ6L 23544 broad.mit.edu 37 22 26689006 26689006 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:26689006G>A ENST00000529632.2 + 2 925 c.729G>A c.(727-729)atG>atA p.M243I SEZ6L_ENST00000360929.3_Missense_Mutation_p.M243I|SEZ6L_ENST00000402979.1_Missense_Mutation_p.M16I|SEZ6L_ENST00000248933.6_Missense_Mutation_p.M243I|SEZ6L_ENST00000403121.1_Missense_Mutation_p.M16I|SEZ6L_ENST00000343706.4_Missense_Mutation_p.M243I|SEZ6L_ENST00000404234.3_Missense_Mutation_p.M243I 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 243 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 TGGCCCTGATGGACAAAGGTG 0.637000 10 16 0 0 0.008291 0 0 GPR65 8477 broad.mit.edu 37 14 88477678 88477678 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:88477678G>A ENST00000267549.3 + 2 1045 c.487G>A c.(487-489)Gaa>Aaa p.E163K RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 163 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TTGCGATGCCGAAAAGTCTAA 0.393000 36 59 0 0 0.003271 0 0 PRKCQ 5588 broad.mit.edu 37 10 6472779 6472779 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:6472779G>A ENST00000263125.5 - 17 2057 c.1958C>T c.(1957-1959)cCg>cTg p.P653L PRKCQ_ENST00000539722.1_Missense_Mutation_p.P528L|PRKCQ_ENST00000397176.2_Missense_Mutation_p.P590L NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 653 AGC-kinase C-terminal. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TACCACTTTCGGCCGGAACGG 0.617000 36 46 0 0 0.005524 0 0 SLC7A1 6541 broad.mit.edu 37 13 30088716 30088716 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:30088716G>A ENST00000380752.5 - 13 2177 c.1791C>T c.(1789-1791)ttC>ttT p.F597F NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 597 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGTAGATGATGAAGCCTGCGG 0.637000 6 13 0 0 0.001168 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36279052 36279052 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:36279052C>T ENST00000007510.4 + 21 3729 c.3585C>T c.(3583-3585)agC>agT p.S1195S ARHGAP33_ENST00000378944.5_Silent_p.S1031S|ARHGAP33_ENST00000314737.5_Silent_p.S1034S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1195 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 ACCCCCGAAGCCGTTCAGATC 0.687000 18 35 0 0 0.001523 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598919 151598919 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:151598919C>T ENST00000362032.4 + 3 693 c.588C>T c.(586-588)ttC>ttT p.F196F RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 196 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TGTTGGGGTTCCTTATTCCTC 0.423000 42 51 0 0 0.006230 0 0 DMBT1 1755 broad.mit.edu 37 10 124399865 124399865 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:124399865C>T ENST00000368909.3 + 52 6971 c.6865C>T c.(6865-6867)Ctc>Ttc p.L2289F DMBT1_ENST00000359586.6_Missense_Mutation_p.L1009F|DMBT1_ENST00000368955.3_Missense_Mutation_p.L2279F|DMBT1_ENST00000338354.3_Missense_Mutation_p.L2289F|DMBT1_ENST00000344338.3_Missense_Mutation_p.L2279F|DMBT1_ENST00000368956.2_Missense_Mutation_p.L1661F|DMBT1_ENST00000330163.4_Missense_Mutation_p.L1661F NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2289 ZP. 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) GGCTGAAATCCTCCATTCTGA 0.468000 12 46 0 0 0.000978 0 0 OR4N2 390429 broad.mit.edu 37 14 20296296 20296296 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:20296296C>T ENST00000315947.1 + 1 689 c.689C>T c.(688-690)tCt>tTt p.S230F OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGGTCTTCTTCTGAGGCAAAA 0.493000 30 58 0 0 0.008361 0 0 MYO18B 84700 broad.mit.edu 37 22 26304324 26304324 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:26304324G>A ENST00000335473.7 + 32 5434 c.5184G>A c.(5182-5184)atG>atA p.M1728I MYO18B_ENST00000407587.2_Missense_Mutation_p.M1729I|MYO18B_ENST00000536101.1_Missense_Mutation_p.M1728I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1728 Gln-rich.|Tail. 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 TCGAGCGGATGAAGCAGATGC 0.602000 7 14 0 0 0.004482 0 0 TTPAL 79183 broad.mit.edu 37 20 43113135 43113135 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:43113135C>T ENST00000372904.3 + 4 747 c.604C>T c.(604-606)Cct>Tct p.P202S TTPAL_ENST00000262605.4_Missense_Mutation_p.P202S|TTPAL_ENST00000372906.2_Intron NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 202 CRAL-TRIO. intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 TCACTTTGGCCCTTTTATAGC 0.453000 21 42 0 0 0.003330 0 0 ABCA12 26154 broad.mit.edu 37 2 215872517 215872517 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:215872517C>T ENST00000272895.7 - 19 2745 c.2526G>A c.(2524-2526)tgG>tgA p.W842* ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W524* NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 842 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACTTATCCATCCACTCTTGAG 0.388000 34 25 0 0 0.002836 0 0 TRIM11 81559 broad.mit.edu 37 1 228582616 228582616 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228582616G>A ENST00000493030.2 - 5 4531 c.822C>T c.(820-822)gaC>gaT p.D274D TRIM11_ENST00000284551.6_Silent_p.D399D|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR Q96F44 TRI11_HUMAN tripartite motif containing 11 399 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GCCTGGGTGGGTCCCGGAGTG 0.592000 23 47 0 0 0.003330 0 0 GRID2 2895 broad.mit.edu 37 4 93511390 93511390 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:93511390C>T ENST00000282020.4 + 2 455 c.197C>T c.(196-198)tCa>tTa p.S66L GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.S66L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 66 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATCACATTTTCAGTGACGTTT 0.393000 19 91 0 0 0.007413 0 0 LYST 1130 broad.mit.edu 37 1 235891379 235891379 + Silent SNP A A G rs80338665 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:235891379A>G ENST00000389794.3 - 38 9333 c.9159T>C c.(9157-9159)agT>agC p.S3053S LYST_ENST00000389793.2_Silent_p.S3053S|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3053 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TACTCACCGAACTTTCAACTG 0.328000 23 47 0 0 0.004656 0 0 AARS2 57505 broad.mit.edu 37 6 44269818 44269818 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:44269818G>A ENST00000244571.4 - 19 2579 c.2577C>T c.(2575-2577)atC>atT p.I859I TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 859 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) GCAGCTTACGGATGGCAGTGT 0.597000 11 24 0 0 0.008291 0 0 KCNK2 3776 broad.mit.edu 37 1 215408400 215408400 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:215408400C>T ENST00000444842.2 + 7 1343 c.1193C>T c.(1192-1194)cCc>cTc p.P398L KCNK2_ENST00000391895.2_Missense_Mutation_p.P394L|KCNK2_ENST00000391894.2_Missense_Mutation_p.P383L NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 398 Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GTCTTGCCTCCCTTACTGAAG 0.498000 19 46 0 0 0.007413 0 0 NOBOX 135935 broad.mit.edu 37 7 144097249 144097249 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:144097249G>A ENST00000467773.1 - 5 1000 c.1001C>T c.(1000-1002)aCc>aTc p.T334I NOBOX_ENST00000483238.1_Intron|NOBOX_ENST00000223140.5_Intron NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 334 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TGTTTCAATGGTGGGCCCTCC 0.617000 25 53 0 0 0.005443 0 0 NAA25 80018 broad.mit.edu 37 12 112516049 112516049 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:112516049G>A ENST00000261745.4 - 7 855 c.607C>T c.(607-609)Ctg>Ttg p.L203L NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 203 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AAACGTTCCAGGATCATATAA 0.303000 34 62 0 0 0.006999 0 0 FOXI1 2299 broad.mit.edu 37 5 169535193 169535193 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:169535193C>T ENST00000306268.6 + 2 776 c.715C>T c.(715-717)Ccg>Tcg p.P239S FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 239 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGCAGTCTCCCGGTGGACAG 0.572000 Pendred syndrome 24 37 0 0 0.002780 0 0 PRKCQ 5588 broad.mit.edu 37 10 6521089 6521089 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:6521089G>A ENST00000263125.5 - 12 1317 c.1218C>T c.(1216-1218)ttC>ttT p.F406F PRKCQ_ENST00000539722.1_Silent_p.F281F|PRKCQ_ENST00000397176.2_Silent_p.F406F NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 406 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity p.F406F(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CCTTTATTGCGAAAAATTGAT 0.398000 17 33 0 0 0.002299 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167914 140167914 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140167914C>T ENST00000504120.2 + 1 2039 c.2039C>T c.(2038-2040)tCg>tTg p.S680L PCDHA1_ENST00000378133.3_Missense_Mutation_p.S680L|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCGTCTTCGCGGGCGTCG 0.657000 15 48 0 0 0.003163 0 0 OLR1 4973 broad.mit.edu 37 12 10313505 10313505 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:10313505C>T ENST00000309539.3 - 4 504 c.444G>A c.(442-444)tgG>tgA p.W148* OLR1_ENST00000432556.2_Intron|OLR1_ENST00000545927.1_Nonsense_Mutation_p.W148*|OLR1_ENST00000543993.1_Intron|OLR1_ENST00000544577.1_Intron NM_002543.3 NP_002534.1 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) receptor 1 148 Neck. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 CATGCCAGATCCAGTCTTGCG 0.423000 37 66 0 0 0.006230 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589549 140589549 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140589549C>T ENST00000239450.2 + 1 1259 c.1070C>T c.(1069-1071)cCa>cTa p.P357L PCDHB12_ENST00000541609.1_Missense_Mutation_p.P20L NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 357 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTCCAATCCCAGAAAACACT 0.463000 24 21 0 0 0.003330 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27503069 27503069 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:27503069G>A ENST00000296097.3 + 6 974 c.556G>A c.(556-558)Gaa>Aaa p.E186K DNAJC5G_ENST00000406962.1_Silent_p.A98A|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.E170K|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.E186K NM_173650.1 NP_775921.1 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 186 protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAAATAGCGAAGATGATTT 0.343000 OREG0014517 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 181 0 0 0.002222 0 0 ESYT2 57488 broad.mit.edu 37 7 158536337 158536337 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:158536337C>T ENST00000251527.5 - 16 1823 c.1758G>A c.(1756-1758)ggG>ggA p.G586G ESYT2_ENST00000435514.2_Silent_p.G21G NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 614 C2 2. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CCTTCAGGTTCCCCAGGGAAC 0.542000 15 22 0 0 0.002450 0 0 ABCA13 154664 broad.mit.edu 37 7 48528851 48528851 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:48528851G>A ENST00000435803.1 + 48 13225 c.13201G>A c.(13201-13203)Ggt>Agt p.G4401S ABCA13_ENST00000544596.1_Missense_Mutation_p.G131S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4401 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 TAATCAGAAGGGTTTTCATTC 0.378000 9 16 0 0 0.006214 0 0 SLIT1 6585 broad.mit.edu 37 10 98807584 98807584 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:98807584C>T ENST00000266058.4 - 16 1742 c.1497G>A c.(1495-1497)gaG>gaA p.E499E ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.E499E NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 499 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCTGGTAATCCTCCGTGCCTG 0.652000 12 21 0 0 0.000978 0 0 KALRN 8997 broad.mit.edu 37 3 124209691 124209691 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:124209691C>T ENST00000360013.3 + 30 4668 c.4541C>T c.(4540-4542)tCt>tTt p.S1514F KALRN_ENST00000460856.1_Missense_Mutation_p.S1505F|KALRN_ENST00000240874.3_Missense_Mutation_p.S1514F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1514 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATCAAAGATTCTTCAGGACAC 0.502000 28 34 0 0 0.006320 0 0 MICAL1 64780 broad.mit.edu 37 6 109768347 109768347 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:109768347C>T ENST00000368952.4 - 17 2503 c.2213G>A c.(2212-2214)cGg>cAg p.R738Q MICAL1_ENST00000358807.3_Missense_Mutation_p.R719Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.R633Q Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 719 LIM zinc-binding. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GAAGCAGCTCCGGTGGAAGAA 0.627000 30 55 0 0 0.003271 0 0 DNAH11 8701 broad.mit.edu 37 7 21827199 21827199 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:21827199G>A ENST00000328843.6 + 61 9974 c.9943G>A c.(9943-9945)Gag>Aag p.E3315K DNAH11_ENST00000409508.3_Missense_Mutation_p.E3308K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3315 Stalk (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 TAAATTCTATGAGGTATCAAT 0.383000 Kartagener syndrome 6 30 0 0 0.001984 0 0 TEAD1 7003 broad.mit.edu 37 11 12901314 12901314 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:12901314C>T ENST00000361905.4 + 6 1010 c.345C>T c.(343-345)atC>atT p.I115I TEAD1_ENST00000527575.1_Silent_p.I130I|TEAD1_ENST00000526600.1_Silent_p.I34I|TEAD1_ENST00000527636.1_Silent_p.I130I|TEAD1_ENST00000334310.6_Silent_p.I119I|TEAD1_ENST00000361985.2_Silent_p.I130I NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 130 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CAGCCCAGATCGTCTCGGCCA 0.567000 34 56 0 0 0.002836 0 0 MUC15 143662 broad.mit.edu 37 11 26582726 26582726 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:26582726C>T ENST00000436318.2 - 4 1105 c.972G>A c.(970-972)ggG>ggA p.G324G MUC15_ENST00000529533.1_Silent_p.G324G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Silent_p.G274G|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Silent_p.G297G|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Silent_p.G274G Q8N387 MUC15_HUMAN mucin 15, cell surface associated 297 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 AGCTAGAATTCCCAAAACTCA 0.383000 18 21 0 0 0.007413 0 0 INPP5D 3635 broad.mit.edu 37 2 234098535 234098535 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:234098535C>T ENST00000359570.5 + 24 2362 c.2362C>T c.(2362-2364)Cag>Tag p.Q788* INPP5D_ENST00000455936.2_Nonsense_Mutation_p.Q552*|INPP5D_ENST00000450745.1_Nonsense_Mutation_p.Q552* Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 800 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCTGCTAGACCAGCACATCCT 0.572000 25 42 0 0 0.003954 0 0 MYOCD 93649 broad.mit.edu 37 17 12666537 12666537 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:12666537C>T ENST00000425538.1 + 14 2737 c.2537C>T c.(2536-2538)cCc>cTc p.P846L MYOCD_ENST00000343344.4_Missense_Mutation_p.P798L|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 798 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) CCCTTTGATCCCTATGCCACC 0.498000 37 40 0 0 0.005524 0 0 SCG2 7857 broad.mit.edu 37 2 224462859 224462859 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:224462859G>A ENST00000305409.2 - 2 1374 c.1142C>T c.(1141-1143)cCg>cTg p.P381L NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 381 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.P381L(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CTCCCGCTCCGGTTCCACTGA 0.468000 8 51 0 0 0.004482 0 0 DHX9 1660 broad.mit.edu 37 1 182853892 182853892 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:182853892C>T ENST00000367549.3 + 27 3515 c.3405C>T c.(3403-3405)atC>atT p.I1135I DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1135 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 TGAACATGATCCGTCAGATCT 0.483000 24 60 0 0 0.006320 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47115560 47115560 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:47115560G>A ENST00000290341.3 + 6 766 c.432G>A c.(430-432)ttG>ttA p.L144L IGF2BP1_ENST00000431824.2_Intron NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 144 RRM 2. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCACCAGTTGGAGAACCATG 0.567000 41 57 0 0 0.007835 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027550 2027550 + Silent SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:2027550G>T ENST00000382722.5 - 1 452 c.90C>A c.(88-90)tcC>tcA p.S30S CACNA2D4_ENST00000585732.1_Silent_p.S30S|CACNA2D4_ENST00000586184.1_Silent_p.S30S|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Silent_p.S30S NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 30 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) AGCGGCTGCTGGAGCTGGGGT 0.642000 6 12 0.00198382 0.00218736 0.001984 1 0 PLAC8L1 153770 broad.mit.edu 37 5 145464078 145464078 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:145464078G>A ENST00000311450.4 - 4 508 c.451C>T c.(451-453)Cag>Tag p.Q151* NM_001029869.1 NP_001025040.1 A1L4L8 PL8L1_HUMAN PLAC8-like 1 151 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGGCCACCTGGCAGATGGAA 0.527000 43 89 0 0 0.007835 0 0 CDC40 51362 broad.mit.edu 37 6 110514442 110514442 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:110514442C>T ENST00000368932.1 + 3 348 c.247C>T c.(247-249)Cct>Tct p.P83S CDC40_ENST00000368930.1_Missense_Mutation_p.P83S|CDC40_ENST00000368933.1_Missense_Mutation_p.P83S|CDC40_ENST00000307731.1_Missense_Mutation_p.P83S O60508 PRP17_HUMAN cell division cycle 40 83 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) TCAGTATAATCCTACCTATGA 0.348000 19 49 0 0 0.001882 0 0 IMPACT 55364 broad.mit.edu 37 18 22029803 22029803 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:22029803C>T ENST00000284202.4 + 10 921 c.780C>T c.(778-780)gtC>gtT p.V260V NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 260 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) TGAAGAATGTCATGGTGGTAG 0.343000 13 20 0 0 0.001855 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820652 35820652 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:35820652C>T ENST00000399989.1 + 2 618 c.339C>T c.(337-339)ctC>ctT p.L113L MAGEB16_ENST00000399985.1_Silent_p.L113L|MAGEB16_ENST00000399988.1_Silent_p.L113L|MAGEB16_ENST00000399992.1_Silent_p.L145L|MAGEB16_ENST00000399987.1_Silent_p.L113L NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 113 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CAGATGCTCTCGACCAGAAAG 0.438000 16 10 0 0 0.004990 0 0 MUC2 4583 broad.mit.edu 37 11 1093781 1093781 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:1093781C>T ENST00000441003.2 + 30 5627 c.5600C>T c.(5599-5601)tCc>tTc p.S1867F MUC2_ENST00000333592.6_Missense_Mutation_p.S155F|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1881 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCCACCTCTTCCCCTCTCACG 0.627000 54 190 0 0 0.003610 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104999229 104999229 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:104999229C>T ENST00000372582.1 + 10 2007 c.1251C>T c.(1249-1251)gaC>gaT p.D417D IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.D417D|IL1RAPL2_ENST00000538500.1_Silent_p.D22D NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 417 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATACTTTAGACTGTGACAATC 0.378000 49 23 0 0 0.003610 0 0 ATP13A2 23400 broad.mit.edu 37 1 17322889 17322889 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:17322889G>A ENST00000452699.1 - 13 1472 c.1283C>T c.(1282-1284)tCt>tTt p.S428F RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.S433F|ATP13A2_ENST00000341676.5_Missense_Mutation_p.S428F|ATP13A2_ENST00000502860.1_Intron NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 433 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(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) ACCCAGGACAGAGAGGGCAGC 0.602000 31 38 0 0 0.003271 0 0 SI 6476 broad.mit.edu 37 3 164735365 164735365 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:164735365C>T ENST00000264382.3 - 31 3792 c.3730G>A c.(3730-3732)Gac>Aac p.D1244N NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1244 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCATAGCGTCATATAATTCC 0.348000 HNSCC(35;0.089) 4 26 0 0 0.000248 0 0 ELOVL2 54898 broad.mit.edu 37 6 10990062 10990062 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:10990062G>A ENST00000354666.3 - 7 722 c.639C>T c.(637-639)ttC>ttT p.F213F NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 213 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TGGTGAGCACGAACTGCACCT 0.547000 22 43 0 0 0.003330 0 0 TBC1D21 161514 broad.mit.edu 37 15 74181416 74181416 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:74181416C>T ENST00000300504.2 + 11 1068 c.985C>T c.(985-987)Cag>Tag p.Q329* TBC1D21_ENST00000562056.1_Nonsense_Mutation_p.Q292*|TBC1D21_ENST00000535547.2_Nonsense_Mutation_p.Q293* NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 329 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 CTAGGTTCCTCAGACATTAAA 0.552000 11 23 0 0 0.001855 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56233556 56233556 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:56233556C>T ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA GCCTGCCCTTCCTCCGTCGTC 0.562000 3 5 0 0 0.004672 0 0 DYSF 8291 broad.mit.edu 37 2 71797379 71797379 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:71797379C>T ENST00000258104.3 + 28 3223 c.2946C>T c.(2944-2946)ccC>ccT p.P982P DYSF_ENST00000410020.3_Silent_p.P1000P|DYSF_ENST00000409366.1_Silent_p.P983P|DYSF_ENST00000413539.2_Silent_p.P1013P|DYSF_ENST00000429174.2_Silent_p.P982P|DYSF_ENST00000409582.3_Silent_p.P999P|DYSF_ENST00000410041.1_Silent_p.P1000P|DYSF_ENST00000409762.1_Silent_p.P999P|DYSF_ENST00000409651.1_Silent_p.P1014P|DYSF_ENST00000409744.1_Silent_p.P969P|DYSF_ENST00000394120.2_Silent_p.P983P NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 982 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 AGGTGCTTCCCAAGGATGACA 0.542000 25 44 0 0 0.007291 0 0 TINAG 27283 broad.mit.edu 37 6 54173634 54173634 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:54173634C>T ENST00000259782.4 + 1 382 c.286C>T c.(286-288)Cct>Tct p.P96S TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.P78S|TINAG_ENST00000370869.3_Missense_Mutation_p.P92S NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 96 SMB. 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) TGATTGCTGTCCTGACTACAA 0.453000 47 84 0 0 0.003610 0 0 GPC5 2262 broad.mit.edu 37 13 92345655 92345655 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:92345655C>T ENST00000377067.3 + 3 912 c.540C>T c.(538-540)aaC>aaT p.N180N NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 180 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ACCTCATTAACCCTGGTGTGA 0.443000 33 66 0 0 0.003755 0 0 BTBD7 55727 broad.mit.edu 37 14 93760510 93760510 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:93760510G>A ENST00000334746.5 - 3 1163 c.856C>T c.(856-858)Cca>Tca p.P286S BTBD7_ENST00000555525.1_Missense_Mutation_p.P286S|BTBD7_ENST00000298896.3_Missense_Mutation_p.P286S|BTBD7_ENST00000554565.1_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 286 BTB 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CGAAAAAATGGGGACCGTGCA 0.398000 16 22 0 0 0.006122 0 0 TDGF1 6997 broad.mit.edu 37 3 46620795 46620795 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:46620795G>A ENST00000296145.5 + 3 895 c.162G>A c.(160-162)caG>caA p.Q54Q LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Silent_p.Q38Q NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 54 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TTTGGCCCCAGGAGGAGCCTG 0.562000 18 38 0 0 0.008871 0 0 GPR98 84059 broad.mit.edu 37 5 90024573 90024573 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:90024573G>A ENST00000405460.2 + 49 10345 c.10249G>A c.(10249-10251)Ggc>Agc p.G3417S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3417 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAACAAGGGAGGCTCTGTGTT 0.488000 57 85 0 0 0.003610 0 0 NEB 4703 broad.mit.edu 37 2 152554087 152554087 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:152554087C>T ENST00000427231.2 - 14 1430 c.1228G>A c.(1228-1230)Gat>Aat p.D410N NEB_ENST00000409198.1_Missense_Mutation_p.D410N|NEB_ENST00000603639.1_Missense_Mutation_p.D410N|NEB_ENST00000172853.10_Missense_Mutation_p.D410N|NEB_ENST00000604864.1_Missense_Mutation_p.D410N|NEB_ENST00000397345.3_Missense_Mutation_p.D410N NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 410 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGAACAGTATCGAGCTTGAAT 0.328000 21 74 0 0 0.002780 0 0 CACNG2 10369 broad.mit.edu 37 22 36962539 36962539 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:36962539C>T ENST00000300105.6 - 3 1278 c.295_splice c.e3-1 p.R99_splice NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 99 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 p.R99R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 CCCTCACGGCCCCTGTGGAAC 0.587000 14 31 0 0 0.004007 0 0 STRA6 64220 broad.mit.edu 37 15 74474685 74474685 + Splice_Site SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:74474685A>C ENST00000323940.5 - 15 1662 c.1418_splice c.e15+1 p.W473_splice STRA6_ENST00000535552.1_Splice_Site_p.W510_splice|STRA6_ENST00000395105.4_Splice_Site_p.W473_splice|STRA6_ENST00000563965.1_Splice_Site_p.W512_splice|STRA6_ENST00000574278.1_Splice_Site_p.W488_splice|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Splice_Site_p.W464_splice|STRA6_ENST00000416286.3_Splice_Site_p.W465_splice|STRA6_ENST00000449139.2_Splice_Site_p.W473_splice NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 473 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 TTCACTCACCACGAGGACTCC 0.602000 15 26 0 0 0.003163 0 0 WNK1 65125 broad.mit.edu 37 12 990932 990932 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:990932C>T ENST00000537687.1 + 13 4609 c.3966C>T c.(3964-3966)acC>acT p.T1322T WNK1_ENST00000530271.2_Silent_p.T1560T|WNK1_ENST00000535572.1_Silent_p.T815T|WNK1_ENST00000315939.6_Silent_p.T1062T|WNK1_ENST00000340908.4_Silent_p.T655T NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1062 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCCAGCCGACCACTTTGGCTT 0.458000 41 91 0 0 0.002852 0 0 SYNE1 23345 broad.mit.edu 37 6 152576878 152576878 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:152576878C>T ENST00000367255.5 - 103 19709 c.19108G>A c.(19108-19110)Gga>Aga p.G6370R SYNE1_ENST00000448038.1_Missense_Mutation_p.G6299R|SYNE1_ENST00000356820.4_Missense_Mutation_p.G894R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G5982R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G6299R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G6370R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6370 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) TTTGCCCCTCCACTCTGGGAA 0.443000 HNSCC(10;0.0054) 31 60 0 0 0.002836 0 0 PACS1 55690 broad.mit.edu 37 11 66006656 66006656 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:66006656C>T ENST00000320580.4 + 21 2370 c.2337C>T c.(2335-2337)tcC>tcT p.S779S PACS1_ENST00000529757.1_Silent_p.S315S NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 779 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding p.S779S(1) RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CTGTGCCCTCCACATCACCAC 0.617000 23 30 0 0 0.006320 0 0 LPA 4018 broad.mit.edu 37 6 161020616 161020616 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:161020616G>A ENST00000447678.1 - 21 3323 c.3203C>T c.(3202-3204)aCc>aTc p.T1068I LPA_ENST00000316300.5_Missense_Mutation_p.T1068I NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3576 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGTGACAGTGGTGGAGTATGT 0.478000 133 218 0 0 0.003610 0 0 SELL 6402 broad.mit.edu 37 1 169676557 169676557 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:169676557C>T ENST00000236147.4 - 4 705 c.545G>A c.(544-546)gGa>gAa p.G182E SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 169 EGF-like. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TACACATTCTCCATGGCCACT 0.393000 17 24 0 0 0.007413 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508796 37508796 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:37508796C>T ENST00000374660.1 + 40 4444 c.4345C>T c.(4345-4347)Caa>Taa p.Q1449* ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Q1330*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Q1330* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1386 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CCGTATATATCAATATGAAAA 0.279000 4 3 0 0 0.000248 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38682859 38682859 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38682859C>T ENST00000222345.6 + 17 5014 c.4505C>T c.(4504-4506)cCa>cTa p.P1502L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1502 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTCCGGTCACCACGGAAGAAC 0.552000 22 32 0 0 0.001882 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290665 141290665 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:141290665G>A ENST00000247452.3 - 3 1456 c.1109C>T c.(1108-1110)tCc>tTc p.S370F NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 370 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CTCAGAAAAGGAGACGTTGCT 0.502000 HNSCC(46;0.14) 51 14 0 0 0.003610 0 0 SPEN 23013 broad.mit.edu 37 1 16257460 16257460 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:16257460C>T ENST00000375759.3 + 11 4929 c.4725C>T c.(4723-4725)tcC>tcT p.S1575S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1575 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAACTGATTCCATTCAAGAAC 0.423000 21 33 0 0 0.008871 0 0 LPA 4018 broad.mit.edu 37 6 160977156 160977156 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:160977156C>T ENST00000447678.1 - 31 4994 c.4874G>A c.(4873-4875)cGa>cAa p.R1625Q LPA_ENST00000316300.5_Missense_Mutation_p.R1625Q NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4133 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GAATGTGCCTCGATAACTCTG 0.488000 18 73 0 0 0.005443 0 0 SH3D19 152503 broad.mit.edu 37 4 152058918 152058918 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:152058918A>G ENST00000409598.4 - 14 2720 c.1553T>C c.(1552-1554)aTt>aCt p.I518T SH3D19_ENST00000455740.1_Missense_Mutation_p.I518T|SH3D19_ENST00000424281.1_Missense_Mutation_p.I482T|SH3D19_ENST00000427414.2_Missense_Mutation_p.I482T|SH3D19_ENST00000409252.2_Missense_Mutation_p.I541T|SH3D19_ENST00000514152.1_Missense_Mutation_p.I518T|SH3D19_ENST00000304527.4_Missense_Mutation_p.I541T Q5HYK7 SH319_HUMAN SH3 domain containing 19 541 SH3 2. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) AAATATGCCAATCTGGTTTCT 0.383000 21 50 0 0 0.005443 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68221863 68221863 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:68221863G>A ENST00000347230.4 - 37 7029 c.6891C>T c.(6889-6891)gaC>gaT p.D2297D ZFYVE26_ENST00000557306.1_Silent_p.D143D NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2297 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) TCTTCAGGTGGTCCTTGGCCT 0.478000 48 59 0 0 0.003610 0 0 ARMC4 55130 broad.mit.edu 37 10 28224106 28224106 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28224106C>T ENST00000305242.5 - 16 2420 c.2328G>A c.(2326-2328)gtG>gtA p.V776V ARMC4_ENST00000545014.1_Silent_p.V301V|ARMC4_ENST00000537576.1_Silent_p.V468V NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 776 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 AGGCCCCAACCACATTCACAA 0.453000 36 49 0 0 0.004289 0 0 DSP 1832 broad.mit.edu 37 6 7558481 7558481 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:7558481G>A ENST00000379802.3 + 3 747 c.406G>A c.(406-408)Gat>Aat p.D136N DSP_ENST00000418664.2_Missense_Mutation_p.D136N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 136 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. 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) CCAGCCCTGTGATGCTTACCA 0.502000 10 21 0 0 0.006214 0 0 CLDN1 9076 broad.mit.edu 37 3 190026081 190026081 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:190026081C>T ENST00000295522.3 - 4 889 c.621G>A c.(619-621)ggG>ggA p.G207G NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 207 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CGTAGTCTTTCCCGCTGGAAG 0.453000 51 90 0 0 0.003610 0 0 STAT6 6778 broad.mit.edu 37 12 57499302 57499302 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57499302C>T ENST00000300134.3 - 8 1086 c.761G>A c.(760-762)cGg>cAg p.R254Q STAT6_ENST00000454075.3_Missense_Mutation_p.R254Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R254Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R144Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R254Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R144Q NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 254 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CAGCGATGCCCGGGTCTTGGG 0.617000 15 33 0 0 0.003163 0 0 SLC38A8 146167 broad.mit.edu 37 16 84067033 84067033 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:84067033G>A ENST00000299709.3 - 3 429 c.430C>T c.(430-432)Ccg>Tcg p.P144S NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 144 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 GCGTACCACGGCTGCGGGGCG 0.652000 11 47 0 0 0.000978 0 0 SLC11A1 6556 broad.mit.edu 37 2 219254628 219254628 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219254628C>T ENST00000233202.6 + 9 1171 c.831C>T c.(829-831)atC>atT p.I277I SLC11A1_ENST00000539932.1_Silent_p.I159I NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 277 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGCAGACATCAGAGAAGCCA 0.557000 9 27 0 0 0.004482 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290826 141290826 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:141290826C>T ENST00000247452.3 - 3 1295 c.948G>A c.(946-948)gaG>gaA p.E316E NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 316 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TGGCTAAAAACTCTAGTACTT 0.463000 HNSCC(46;0.14) 42 21 0 0 0.006230 0 0 G6PC 2538 broad.mit.edu 37 17 41055989 41055989 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:41055989C>T ENST00000253801.2 + 2 351 c.272C>T c.(271-273)aCt>aTt p.T91I G6PC_ENST00000585489.1_Missense_Mutation_p.T91I|G6PC_ENST00000592383.1_Missense_Mutation_p.T91I NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 91 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) GTTTTGGATACTGACTACTAC 0.493000 36 82 0 0 0.008740 0 0 PCDH18 54510 broad.mit.edu 37 4 138449647 138449647 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:138449647C>T ENST00000344876.4 - 3 3111 c.2725G>A c.(2725-2727)Gga>Aga p.G909R PCDH18_ENST00000412923.2_Missense_Mutation_p.G908R|PCDH18_ENST00000510305.1_Missense_Mutation_p.G120R|PCDH18_ENST00000507846.1_Missense_Mutation_p.G688R|PCDH18_ENST00000511115.1_Missense_Mutation_p.G89R NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 909 Interaction with DAB1 (By similarity). 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) GGAATTCTTCCATCTGTGAGA 0.418000 84 151 0 0 0.003610 0 0 NAV3 89795 broad.mit.edu 37 12 78513580 78513580 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:78513580G>A ENST00000397909.2 + 15 3777 c.3604G>A c.(3604-3606)Gaa>Aaa p.E1202K NAV3_ENST00000266692.7_Missense_Mutation_p.E1202K|NAV3_ENST00000536525.2_Missense_Mutation_p.E1202K|NAV3_ENST00000228327.6_Missense_Mutation_p.E1202K Q8IVL0 NAV3_HUMAN neuron navigator 3 1202 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAAGGAAAAGGAAAAAGTAGC 0.527000 HNSCC(70;0.22) 21 54 0 0 0.008871 0 0 C7orf66 154907 broad.mit.edu 37 7 108524165 108524165 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:108524165G>A ENST00000379007.2 - 2 301 c.247C>T c.(247-249)Cat>Tat p.H83Y NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 83 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 TATCCCTCATGAATTCTAGTT 0.393000 33 40 0 0 0.002836 0 0 TMOD1 7111 broad.mit.edu 37 9 100286524 100286524 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:100286524C>T ENST00000395211.2 + 2 190 c.54C>T c.(52-54)atC>atT p.I18I TMOD1_ENST00000259365.3_Silent_p.I18I NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 18 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) AAGATGAAATCCTTGGAGCCC 0.473000 16 11 0 0 0.004990 0 0 ELF2 1998 broad.mit.edu 37 4 139980139 139980139 + Nonstop_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:139980139A>C ENST00000394235.2 - 10 2246 c.1744T>G c.(1744-1746)Taa>Gaa p.*582E ELF2_ENST00000510408.1_Nonstop_Mutation_p.*522E|ELF2_ENST00000379549.2_Nonstop_Mutation_p.*505E|ELF2_ENST00000379550.1_Nonstop_Mutation_p.*594E|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Nonstop_Mutation_p.*582E|ELF2_ENST00000358635.3_Nonstop_Mutation_p.*534E NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 0 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) CTGCTATTTTATTTCTCACAT 0.418000 32 46 0 0 0.003271 0 0 ARMC1 55156 broad.mit.edu 37 8 66516710 66516710 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:66516710G>A ENST00000276569.3 - 7 1012 c.768C>T c.(766-768)tcC>tcT p.S256S ARMC1_ENST00000458464.2_Silent_p.S154S NM_018120.4 NP_060590.1 Q9NVT9 ARMC1_HUMAN armadillo repeat containing 1 256 metal ion transport metal ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1) 14 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) AGCCGACCCGGGACACCGCTT 0.498000 27 55 0 0 0.006320 0 0 MYO18B 84700 broad.mit.edu 37 22 26173717 26173717 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:26173717G>A ENST00000335473.7 + 8 2287 c.2037G>A c.(2035-2037)ggG>ggA p.G679G MYO18B_ENST00000407587.2_Silent_p.G679G|MYO18B_ENST00000536101.1_Silent_p.G679G NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 679 Myosin head-like. 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 ACCTGGTGGGGATGGCAGGCA 0.622000 38 69 0 0 0.006230 0 0 RNF135 84282 broad.mit.edu 37 17 29325795 29325795 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:29325795G>A ENST00000328381.5 + 5 1758 c.885G>A c.(883-885)gaG>gaA p.E295E RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 295 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) GGAGCTGTGAGAGGTTTTCTA 0.542000 29 18 0 0 0.001786 0 0 SMC4 10051 broad.mit.edu 37 3 160118641 160118641 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:160118641C>T ENST00000357388.3 + 2 478 c.27C>T c.(25-27)tcC>tcT p.S9S SMC4_ENST00000462787.1_Silent_p.S9S|SMC4_ENST00000344722.5_Silent_p.S9S|SMC4_ENST00000360111.2_Silent_p.S9S|SMC4_ENST00000469762.1_Silent_p.S9S|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 9 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CCCAGCCCTCCACTGCCCGGC 0.786000 5 5 0 0 0.001168 0 0 CCNB3 85417 broad.mit.edu 37 X 50052004 50052004 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:50052004C>T ENST00000376042.1 + 6 1133 c.835C>T c.(835-837)Ccc>Tcc p.P279S CCNB3_ENST00000276014.7_Missense_Mutation_p.P279S|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 279 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GGAGTCAATCCCCACCCATAA 0.418000 28 9 0 0 0.005443 0 0 HTR2A 3356 broad.mit.edu 37 13 47466613 47466613 + Silent SNP G G A rs112426939 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:47466613G>A ENST00000378688.4 - 2 656 c.525C>T c.(523-525)gtC>gtT p.V175V HTR2A_ENST00000543956.1_Silent_p.V91V|HTR2A_ENST00000542664.1_Silent_p.V175V P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 175 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.V175V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCTGGATGGCGACGTAGCGGT 0.532000 49 268 0 0 0.003610 0 0 MDN1 23195 broad.mit.edu 37 6 90494817 90494817 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:90494817G>A ENST00000369393.3 - 9 1478 c.1363C>T c.(1363-1365)Cga>Tga p.R455* MDN1_ENST00000428876.1_Nonsense_Mutation_p.R455* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 455 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTAGCGGTCGATACCAATTT 0.388000 64 107 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179614349 179614349 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179614349C>T ENST00000360870.5 - 46 13000 c.12778G>A c.(12778-12780)Gaa>Aaa p.E4260K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_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 14 39 0 0 0.001855 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650919 94650919 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:94650919G>A ENST00000260526.6 - 17 2081 c.1899C>T c.(1897-1899)ttC>ttT p.F633F ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 633 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) CAACACCTTGGAACACTACAA 0.353000 29 67 0 0 0.001786 0 0 XIRP1 165904 broad.mit.edu 37 3 39229316 39229316 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:39229316C>T ENST00000340369.3 - 2 1849 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E541K NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 541 Interaction with CTNNB1 (By similarity). 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) GCCACCACTTCCTGCCGGGTG 0.607000 21 54 0 0 0.001882 0 0 C2CD5 9847 broad.mit.edu 37 12 22643080 22643080 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:22643080G>A ENST00000333957.4 - 12 1590 c.1335C>T c.(1333-1335)acC>acT p.T445T C2CD5_ENST00000396028.2_Silent_p.T436T|C2CD5_ENST00000446597.1_Silent_p.T445T|C2CD5_ENST00000544930.1_Silent_p.T260T|C2CD5_ENST00000536386.1_Silent_p.T447T|C2CD5_ENST00000545552.1_Silent_p.T458T|C2CD5_ENST00000542676.1_Silent_p.T445T NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 AGCCTTCCACGGTGCCATCCT 0.448000 32 51 0 0 0.003755 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529943 140529943 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140529943G>A ENST00000231136.1 + 1 105 c.105G>A c.(103-105)ttG>ttA p.L35L PCDHB6_ENST00000543635.1_Intron NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 35 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTCCGTATTGGAGGAGACAG 0.493000 21 54 0 0 0.008871 0 0 USP36 57602 broad.mit.edu 37 17 76794553 76794553 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:76794553G>A ENST00000312010.6 - 20 3645 c.3321C>T c.(3319-3321)ttC>ttT p.F1107F USP36_ENST00000542802.2_Silent_p.F1107F|USP36_ENST00000449938.2_Silent_p.F712F NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 1105 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TCACAGACCAGAAGTTCCGTC 0.512000 42 73 0 0 0.003610 0 0 PGK2 5232 broad.mit.edu 37 6 49754641 49754641 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:49754641G>A ENST00000304801.3 - 1 412 c.260C>T c.(259-261)tCc>tTc p.S87F NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 87 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) GCCCAGCAAGGATTTGAGCTC 0.522000 48 89 0 0 0.003610 0 0 GH1 2688 broad.mit.edu 37 17 61995778 61995778 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:61995778G>A ENST00000323322.5 - 2 141 c.99C>T c.(97-99)tcC>tcT p.S33S GH1_ENST00000351388.4_Silent_p.S33S|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Silent_p.S33S|GH1_ENST00000458650.2_Silent_p.S33S NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 33 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 CAAAAAGCCTGGATAAGGGAA 0.592000 72 122 0 0 0.003610 0 0 ASNSD1 54529 broad.mit.edu 37 2 190535413 190535413 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:190535413C>T ENST00000260952.4 + 6 2306 c.1893C>T c.(1891-1893)tcC>tcT p.S631S ASNSD1_ENST00000607062.1_Silent_p.S150S NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 631 asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) AAATCATGTCCTTAGAAAATC 0.294000 20 26 0 0 0.001523 0 0 SPERT 220082 broad.mit.edu 37 13 46287337 46287337 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:46287337C>T ENST00000378966.3 + 2 485 c.69C>T c.(67-69)ttC>ttT p.F23F SPERT_ENST00000310521.1_Silent_p.F59F Q8NA61 SPERT_HUMAN spermatid associated 59 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCGAACCCTTCCCGAGGCTCC 0.647000 4 24 0 0 0.000248 0 0 HDAC9 9734 broad.mit.edu 37 7 18688209 18688209 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:18688209T>G ENST00000406451.3 + 11 1511 c.1361T>G c.(1360-1362)tTg>tGg p.L454W HDAC9_ENST00000405010.3_Missense_Mutation_p.L454W|HDAC9_ENST00000428307.2_Missense_Mutation_p.L410W|HDAC9_ENST00000441542.2_Missense_Mutation_p.L457W|HDAC9_ENST00000406072.1_Missense_Mutation_p.L441W|HDAC9_ENST00000432645.2_Missense_Mutation_p.L454W|HDAC9_ENST00000401921.1_Missense_Mutation_p.L413W|HDAC9_ENST00000456174.2_Missense_Mutation_p.L426W|HDAC9_ENST00000524023.1_Missense_Mutation_p.L377W|HDAC9_ENST00000417496.2_Missense_Mutation_p.L452W NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 454 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TCTGCACCTTTGCCTCAGAGC 0.502000 19 39 0 0 0.007413 0 0 OR51B5 282763 broad.mit.edu 37 11 5364678 5364678 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5364678G>A ENST00000300773.2 - 1 131 c.77C>T c.(76-78)tCc>tTc p.S26F AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S26F(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAAAATACGGAAATCCAGTG 0.438000 20 40 0 0 0.008871 0 0 KCNE4 23704 broad.mit.edu 37 2 223918037 223918037 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:223918037G>A ENST00000281830.3 + 2 973 c.642G>A c.(640-642)tcG>tcA p.S214S KCNE4_ENST00000604125.1_Silent_p.S163S|KCNE4_ENST00000488477.2_Intron Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 163 integral to membrane voltage-gated potassium channel activity large_intestine(2)|lung(5)|ovary(2)|skin(1) 10 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) AAGGGTCCTCGGAGAACATCC 0.607000 4 23 0 0 0.000602 0 0 EHMT1 79813 broad.mit.edu 37 9 140708908 140708908 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:140708908C>G ENST00000460843.1 + 22 3233 c.3206C>G c.(3205-3207)tCc>tGc p.S1069C NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1069 Pre-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) GACGACTGCTCCTCCAGCAAC 0.632000 29 23 0 0 0.003755 0 0 NPRL3 8131 broad.mit.edu 37 16 142606 142606 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:142606G>A ENST00000399953.3 - 10 1551 c.1149C>T c.(1147-1149)ccC>ccT p.P383P NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.P204P NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 383 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 CCTGCACAGCGGGGGCCAGGG 0.567000 9 8 0 0 0.004482 0 0 IL1RL2 8808 broad.mit.edu 37 2 102804359 102804359 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:102804359T>C ENST00000264257.2 + 2 158 c.32T>C c.(31-33)aTc>aCc p.I11T IL1RL2_ENST00000539491.1_Missense_Mutation_p.I11T|IL1RL2_ENST00000441515.2_Missense_Mutation_p.S38P|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 11 cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 GGGTTGTCCATCGCCCTTCCA 0.657000 28 38 0 0 0.005443 0 0 DNAI2 64446 broad.mit.edu 37 17 72305507 72305507 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:72305507G>A ENST00000579490.1 + 9 1633 c.1498G>A c.(1498-1500)Gat>Aat p.D500N DNAI2_ENST00000582036.1_Missense_Mutation_p.D443N|DNAI2_ENST00000307504.5_Missense_Mutation_p.D300N|DNAI2_ENST00000311014.6_Missense_Mutation_p.D443N|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000446837.2_Missense_Mutation_p.D443N Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 443 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CGAGCAGTGCGATCCCACCCT 0.612000 Kartagener syndrome 8 45 0 0 0.006214 0 0 OR9G4 283189 broad.mit.edu 37 11 56510593 56510593 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56510593G>A ENST00000302957.3 - 1 694 c.695C>T c.(694-696)tCc>tTc p.S232F NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GTTGACATAGGAAATCAGGAT 0.483000 42 50 0 0 0.002522 0 0 GK2 2712 broad.mit.edu 37 4 80328648 80328648 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:80328648G>A ENST00000358842.3 - 1 724 c.707C>T c.(706-708)tCt>tTt p.S236F NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 236 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GATCTCAGAAGAACTGAAGAC 0.413000 30 62 0 0 0.001786 0 0 NXPH1 30010 broad.mit.edu 37 7 8791000 8791000 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:8791000G>A ENST00000405863.1 + 3 1328 c.417G>A c.(415-417)ggG>ggA p.G139G NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Silent_p.G22G NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 139 III. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) TGATAACTGGGAAAATTGTAG 0.398000 35 42 0 0 0.003271 0 0 ZNF215 7762 broad.mit.edu 37 11 6977310 6977310 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6977310C>T ENST00000278319.5 + 7 1690 c.1102C>T c.(1102-1104)Cga>Tga p.R368* ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.R368*|ZNF215_ENST00000527171.1_3'UTR NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 368 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R368*(1)|p.R368G(1) NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TACAGATATTCGACACCAAAA 0.333000 12 48 0 0 0.000978 0 0 ZIM2 23619 broad.mit.edu 37 19 57286131 57286131 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57286131G>A ENST00000391708.3 - 12 2051 c.1509C>T c.(1507-1509)ttC>ttT p.F503F AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Silent_p.F503F|ZIM2_ENST00000601070.1_Silent_p.F503F|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Silent_p.F503F|ZIM2_ENST00000221722.5_Silent_p.F503F|AC006115.3_ENST00000594400.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGGGTCGGCCGAAACATTTCC 0.443000 24 40 0 0 0.003330 0 0 NCAPD3 23310 broad.mit.edu 37 11 134027867 134027867 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:134027867G>A ENST00000534548.2 - 31 4194 c.4130C>T c.(4129-4131)cCt>cTt p.P1377L NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1377 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TAAAGTGAAAGGCAGCACTCC 0.483000 83 60 0 0 0.003610 0 0 KCNA6 3742 broad.mit.edu 37 12 4920434 4920434 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:4920434C>T ENST00000433855.1 + 1 2093 c.1227C>T c.(1225-1227)atC>atT p.I409I KCNA6_ENST00000280684.3_Silent_p.I409I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 409 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TTCCCAGCATCCCGGATGCCT 0.567000 HNSCC(72;0.22) 51 72 0 0 0.003610 0 0 CSMD2 114784 broad.mit.edu 37 1 34087838 34087838 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:34087838G>A ENST00000373381.4 - 37 5932 c.5756C>T c.(5755-5757)tCc>tTc p.S1919F CSMD2_ENST00000373388.2_Missense_Mutation_p.S18F|CSMD2_ENST00000373380.1_Missense_Mutation_p.S792F|CSMD2_ENST00000373377.1_Missense_Mutation_p.S18F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1879 Sushi 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) GAGCTGGTTGGAGGTGCTGTT 0.517000 37 72 0 0 0.004289 0 0 SMAD7 4092 broad.mit.edu 37 18 46468879 46468879 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:46468879C>T ENST00000262158.2 - 3 1000 c.714G>A c.(712-714)acG>acA p.T238T SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.T237T|SMAD7_ENST00000591805.1_Silent_p.T23T NM_001190821.1|NM_005904.3 NP_001177750.1|NP_005895.1 O15105 SMAD7_HUMAN SMAD family member 7 238 adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) CCAGATAATTCGTTCCCCCTG 0.443000 37 133 0 0 0.006230 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51995005 51995005 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:51995005C>T ENST00000291707.3 - 8 1733 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E442K NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 560 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ATCTCTCCTTCCTCTGGGGAG 0.592000 32 64 0 0 0.002445 0 0 NWD1 284434 broad.mit.edu 37 19 16860716 16860716 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:16860716C>T ENST00000524140.2 + 6 1681 c.1263C>T c.(1261-1263)ctC>ctT p.L421L NWD1_ENST00000339803.6_Silent_p.L286L|NWD1_ENST00000379808.3_Silent_p.L421L|NWD1_ENST00000549814.1_Silent_p.L421L|NWD1_ENST00000523826.1_Silent_p.L215L|NWD1_ENST00000552788.1_Silent_p.L421L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 421 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATACCCTCCTCCACACTGTCT 0.607000 41 68 0 0 0.002522 0 0 TLL1 7092 broad.mit.edu 37 4 166913967 166913967 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:166913967G>A ENST00000061240.2 + 3 939 c.292G>A c.(292-294)Gac>Aac p.D98N TLL1_ENST00000507499.1_Missense_Mutation_p.D98N|TLL1_ENST00000513213.1_Missense_Mutation_p.D98N NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 98 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGGACTTGGAGACCATGCTAT 0.358000 24 49 0 0 0.004656 0 0 C6orf195 154386 broad.mit.edu 37 6 2623929 2623929 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:2623929G>A ENST00000296847.3 - 3 651 c.128C>T c.(127-129)cCc>cTc p.P43L NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 43 P -> S (in dbSNP:rs9503233). cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) CCTTAGAGCGGGCCTGGCTCC 0.617000 34 49 0 0 0.002445 0 0 MPO 4353 broad.mit.edu 37 17 56349253 56349253 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:56349253C>T ENST00000340482.3 - 10 2065 c.1888_splice c.e10-1 p.G630_splice MPO_ENST00000225275.3_Splice_Site_p.G598_splice P05164 PERM_HUMAN myeloperoxidase 598 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GGCATTGTATCCTGCATGGGG 0.597000 39 71 0 0 0.006999 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921781 78921781 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:78921781G>A ENST00000261751.3 - 5 977 c.866C>T c.(865-867)tCc>tTc p.S289F CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 289 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CACATCGAGGGAGGTGGGTGG 0.572000 30 47 0 0 0.002096 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641727 106641727 + RNA SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:106641727C>A ENST00000390605.2 - 0 245 CACTCAAGCCCTTGTCCAGGG 0.547000 66 120 1.21826e-31 1.36628e-31 0.003610 1 0 FAM161B 145483 broad.mit.edu 37 14 74411260 74411260 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:74411260C>T ENST00000286544.3 - 3 1090 c.892G>A c.(892-894)Gag>Aag p.E298K FAM161B_ENST00000534936.1_Missense_Mutation_p.E235K NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 TCGCTGCGCTCCATGATCTCT 0.612000 26 40 0 0 0.006320 0 0 NCOA3 8202 broad.mit.edu 37 20 46276050 46276050 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:46276050C>T ENST00000372004.3 + 18 3702 c.3486C>T c.(3484-3486)ccC>ccT p.P1162P NCOA3_ENST00000341724.6_Silent_p.P1092P|NCOA3_ENST00000371997.3_Silent_p.P1157P|NCOA3_ENST00000371998.3_Silent_p.P1162P NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1162 Acetyltransferase. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TCATGAGACCCCGGACAAACA 0.502000 35 47 0 0 0.004289 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85431957 85431957 + Translation_Start_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:85431957G>A ENST00000393217.2 + 2 64 c.3G>A c.(1-3)atG>atA p.M1I NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1 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) GAAGAATAATGGACGATGATG 0.333000 10 18 0 0 0.008291 0 0 PEG3 5178 broad.mit.edu 37 19 57327369 57327369 + Missense_Mutation SNP T T C rs147407205 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57327369T>C ENST00000326441.9 - 10 2804 c.2441A>G c.(2440-2442)aAc>aGc p.N814S PEG3_ENST00000593695.1_Missense_Mutation_p.N688S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N814S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N690S|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 814 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) TCTCTGATGGTTGATAGCATC 0.478000 55 84 0 0 0.003610 0 0 BTBD16 118663 broad.mit.edu 37 10 124050611 124050611 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:124050611G>A ENST00000368994.2 + 7 746 c.495G>A c.(493-495)ctG>ctA p.L165L BTBD16_ENST00000260723.4_Silent_p.L164L Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 164 BTB. breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CCACGGCCCTGAAGAACCTCT 0.597000 30 89 0 0 0.002096 0 0 LMTK2 22853 broad.mit.edu 37 7 97814435 97814435 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:97814435C>T ENST00000297293.5 + 8 1157 c.864C>T c.(862-864)ttC>ttT p.F288F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 288 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAATAGGATTCAGCAGGTACA 0.398000 12 25 0 0 0.001368 0 0 PNPLA6 10908 broad.mit.edu 37 19 7614993 7614993 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:7614993C>T ENST00000221249.6 + 17 2123 c.1692C>T c.(1690-1692)ttC>ttT p.F564F PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Silent_p.F603F|PNPLA6_ENST00000545201.2_Silent_p.F538F|PNPLA6_ENST00000450331.3_Silent_p.F564F|PNPLA6_ENST00000414982.3_Silent_p.F612F NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 603 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 AGTCCGACTTCTATGAGTATG 0.607000 33 55 0 0 0.003755 0 0 PDGFRA 5156 broad.mit.edu 37 4 55129833 55129833 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:55129833G>A ENST00000257290.5 + 4 698 c.e4-1 FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Splice_Site NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 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) TTAAACCACAGACCCAGATGT 0.378000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 45 56 0 0 0.003610 0 0 C3orf22 152065 broad.mit.edu 37 3 126268752 126268752 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:126268752G>A ENST00000318225.2 - 4 763 c.385C>T c.(385-387)Cag>Tag p.Q129* NM_152533.1 NP_689746.1 Q8N5N4 CC022_HUMAN chromosome 3 open reading frame 22 129 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) TTGCTGGTCTGGGGGCAGGCA 0.627000 4 24 0 0 0.000248 0 0 THOP1 7064 broad.mit.edu 37 19 2811680 2811680 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:2811680C>T ENST00000307741.6 + 12 2059 c.1856C>T c.(1855-1857)tCc>tTc p.S619F THOP1_ENST00000395212.4_Missense_Mutation_p.S130F|THOP1_ENST00000586677.1_Missense_Mutation_p.S498F NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 619 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 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) GAGGTGTATTCCATGGACATG 0.612000 26 41 0 0 0.004656 0 0 ACSS3 79611 broad.mit.edu 37 12 81613831 81613831 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:81613831G>A ENST00000548058.1 + 11 2400 c.1490G>A c.(1489-1491)cGg>cAg p.R497Q ACSS3_ENST00000261206.3_Missense_Mutation_p.R496Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.R179Q Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 497 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 CTGAAGGCTCGGTGTTTAGGA 0.269000 18 41 0 0 0.008871 0 0 ENTPD1 953 broad.mit.edu 37 10 97599452 97599452 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:97599452G>A ENST00000371207.3 + 3 248 c.185G>A c.(184-186)gGg>gAg p.G62E RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000371205.4_Missense_Mutation_p.G50E|ENTPD1_ENST00000543964.1_5'UTR|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000453258.2_Missense_Mutation_p.G57E NM_001164178.1 NP_001157650.1 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 50 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TTTCAGTATGGGATTGTGCTG 0.408000 57 89 0 0 0.003610 0 0 TENC1 23371 broad.mit.edu 37 12 53453118 53453118 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:53453118G>T ENST00000314250.6 + 18 1983 c.1693G>T c.(1693-1695)Gat>Tat p.D565Y TENC1_ENST00000546602.1_Missense_Mutation_p.D565Y|TENC1_ENST00000451358.1_Missense_Mutation_p.D565Y|TENC1_ENST00000552570.1_Missense_Mutation_p.D565Y|TENC1_ENST00000549700.1_Missense_Mutation_p.D565Y|TENC1_ENST00000314276.3_Missense_Mutation_p.D575Y|TENC1_ENST00000379902.3_Missense_Mutation_p.D441Y NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 565 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GGCCATCCTAGATGACGAAGA 0.697000 8 9 5.4927e-09 6.09592e-09 0.004482 1 0 OR51D1 390038 broad.mit.edu 37 11 4661336 4661336 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:4661336G>A ENST00000357605.2 + 1 392 c.316G>A c.(316-318)Gag>Aag p.E106K NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGGAGATCGAGTTCAACAT 0.532000 19 34 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9024193 9024193 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9024193C>T ENST00000397910.4 - 18 37282 c.37079G>A c.(37078-37080)gGg>gAg p.G12360E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12362 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 TGTGGAGGTCCCAGGAGCTGA 0.483000 7 15 0 0 0.003080 0 0 ASNSD1 54529 broad.mit.edu 37 2 190535412 190535412 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:190535412C>T ENST00000260952.4 + 6 2305 c.1892C>T c.(1891-1893)tCc>tTc p.S631F ASNSD1_ENST00000607062.1_Missense_Mutation_p.S150F NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 631 asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) CAAATCATGTCCTTAGAAAAT 0.299000 21 25 0 0 0.001882 0 0 MUC17 140453 broad.mit.edu 37 7 100675956 100675956 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:100675956C>T ENST00000306151.4 + 3 1323 c.1259C>T c.(1258-1260)tCc>tTc p.S420F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 420 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) CCTGTTGACTCCAAAACTTTT 0.468000 99 153 0 0 0.003610 0 0 OR6B3 150681 broad.mit.edu 37 2 240984548 240984548 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:240984548C>T ENST00000319423.4 - 1 941 c.942G>A c.(940-942)ggG>ggA p.G314G NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TAGAAAGCCTCCCCTCTACGG 0.458000 42 113 0 0 0.008740 0 0 MCOLN2 255231 broad.mit.edu 37 1 85424294 85424294 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:85424294G>A ENST00000370608.3 - 3 396 c.329C>T c.(328-330)tCt>tTt p.S110F MCOLN2_ENST00000284027.5_Missense_Mutation_p.S82F|MCOLN2_ENST00000531325.1_5'UTR NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 110 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) ATCTGTACCAGAATATCCTTT 0.363000 46 69 0 0 0.002522 0 0 KCNQ2 3785 broad.mit.edu 37 20 62045536 62045536 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:62045536G>A ENST00000354587.3 - 12 1628 c.1452C>T c.(1450-1452)ctC>ctT p.L484L KCNQ2_ENST00000359125.2_Silent_p.L512L|KCNQ2_ENST00000360480.3_Silent_p.L484L|KCNQ2_ENST00000370226.1_Silent_p.L482L|KCNQ2_ENST00000430658.1_Silent_p.L481L|KCNQ2_ENST00000359689.1_Silent_p.L512L|KCNQ2_ENST00000344462.3_Silent_p.L472L|KCNQ2_ENST00000370224.1_Silent_p.L484L|KCNQ2_ENST00000357249.2_Silent_p.L494L|KCNQ2_ENST00000370222.3_Silent_p.L484L O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 512 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCTCTCCGGGGAGGCTTGCTT 0.657000 20 27 0 0 0.001523 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648613 62648613 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:62648613G>A ENST00000337910.5 - 6 1150 c.813C>T c.(811-813)atC>atT p.I271I RHOBTB1_ENST00000357917.4_Silent_p.I271I NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 271 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) GGTCCTGAAGGATGAACAGAA 0.443000 41 44 0 0 0.008740 0 0 KDM6B 23135 broad.mit.edu 37 17 7750890 7750890 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:7750890C>T ENST00000254846.5 + 11 1673 c.1284C>T c.(1282-1284)ccC>ccT p.P428P KDM6B_ENST00000448097.2_Silent_p.P428P NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 428 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.P428P(1) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 ACCAAACTCCCGCGCTGGAGG 0.652000 7 13 0 0 0.004482 0 0 NBEAL1 65065 broad.mit.edu 37 2 204034557 204034557 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:204034557G>A ENST00000449802.1 + 38 6331 c.5998G>A c.(5998-6000)Gca>Aca p.A2000T NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2000 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GTTATTCAAAGCATCAGGATT 0.338000 77 251 0 0 0.003610 0 0 ANO5 203859 broad.mit.edu 37 11 22248924 22248924 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:22248924T>G ENST00000324559.8 + 7 757 c.440T>G c.(439-441)tTg>tGg p.L147W NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 147 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 GCTGAAGTCTTGGGAATCAAA 0.433000 14 60 0 0 0.001855 0 0 BZW2 28969 broad.mit.edu 37 7 16734576 16734576 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:16734576G>A ENST00000433922.2 + 8 947 c.769G>A c.(769-771)Gaa>Aaa p.E257K BZW2_ENST00000258761.3_Missense_Mutation_p.E257K|BZW2_ENST00000405202.1_Missense_Mutation_p.E181K|BZW2_ENST00000407633.1_Missense_Mutation_p.E63K|BZW2_ENST00000452975.2_3'UTR NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 257 W2. cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) CACCAGGAAGGAACTGCAGAA 0.532000 31 38 0 0 0.001786 0 0 EPHA1 2041 broad.mit.edu 37 7 143097141 143097141 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:143097141G>A ENST00000275815.3 - 4 524 c.438C>T c.(436-438)acC>acT p.T146T NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 146 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CAGCCACCGTGGTTACCTGGG 0.542000 18 26 0 0 0.008871 0 0 CTSS 1520 broad.mit.edu 37 1 150724443 150724443 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:150724443G>A ENST00000368985.3 - 5 701 c.441C>T c.(439-441)gcC>gcT p.A147A CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.A97A NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 147 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GTGCTTCCAGGGCCCCCACAG 0.478000 20 36 0 0 0.008871 0 0 OR51L1 119682 broad.mit.edu 37 11 5020453 5020453 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5020453C>T ENST00000321543.1 + 1 241 c.241C>T c.(241-243)Ccc>Tcc p.P81S NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCTACACTTCCCACCATGCT 0.473000 25 99 0 0 0.003330 0 0 PEAR1 375033 broad.mit.edu 37 1 156882722 156882722 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:156882722G>A ENST00000338302.3 + 19 2595 c.2370G>A c.(2368-2370)ctG>ctA p.L790L PEAR1_ENST00000292357.7_Silent_p.L790L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 790 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) ACCACCACCTGGCTGTGGCTT 0.612000 40 52 0 0 0.002852 0 0 C12orf56 115749 broad.mit.edu 37 12 64668746 64668746 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:64668746C>T ENST00000543942.2 - 11 2145 c.1519G>A c.(1519-1521)Gga>Aga p.G507R C12orf56_ENST00000333722.5_Missense_Mutation_p.G347R|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 510 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) GATCCCAATCCGAGATTTCCC 0.343000 30 67 0 0 0.008361 0 0 VWF 7450 broad.mit.edu 37 12 6125984 6125984 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:6125984G>A ENST00000261405.5 - 29 5360 c.5106C>T c.(5104-5106)ttC>ttT p.F1702F NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1702 VWFA 3; main binding site for collagens type I and III. 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) AAGAAGCTGGGAAACTGGAGG 0.522000 57 96 0 0 0.003610 0 0 CTNND2 1501 broad.mit.edu 37 5 10981905 10981905 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:10981905C>T ENST00000304623.8 - 21 3586 c.3397G>A c.(3397-3399)Gaa>Aaa p.E1133K CTNND2_ENST00000511377.1_Missense_Mutation_p.E1042K|CTNND2_ENST00000503622.1_Missense_Mutation_p.E796K|CTNND2_ENST00000359640.2_Missense_Mutation_p.E1075K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.E700K NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1133 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 TTGATGTCTTCAGCGGGCGCA 0.338000 24 124 0 0 0.002299 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456253 84456253 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:84456253G>T ENST00000416219.2 + 9 882 c.793G>T c.(793-795)Ggg>Tgg p.G265W ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G265W O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 265 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GATTGGAACAGGGGAAAGCTC 0.547000 33 175 3.93418e-24 4.4069e-24 0.004289 1 0 FAM63A 55793 broad.mit.edu 37 1 150975030 150975030 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:150975030G>A ENST00000361936.5 - 3 1018 c.64C>T c.(64-66)Cct>Tct p.P22S FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.P70S|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 22 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGTTTTCAGGGATGACTGCT 0.572000 49 119 0 0 0.003610 0 0 CYP4X1 260293 broad.mit.edu 37 1 47501543 47501543 + Silent SNP G G A rs114519235 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:47501543G>A ENST00000371901.3 + 5 808 c.558G>A c.(556-558)tcG>tcA p.S186S CYP4X1_ENST00000538609.1_Silent_p.S185S NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 186 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 ACATCAACTCGATGTCTCTGG 0.468000 18 33 0 0 0.008871 0 0 FBN1 2200 broad.mit.edu 37 15 48802295 48802295 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:48802295G>A ENST00000316623.5 - 14 2115 c.1660C>T c.(1660-1662)Cat>Tat p.H554Y NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 554 EGF-like 8; 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 p.H554N(1) 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) CACACGCAATGAAAACTGCCA 0.383000 7 34 0 0 0.001984 0 0 LRRN4 164312 broad.mit.edu 37 20 6022042 6022042 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:6022042C>T ENST00000378858.4 - 5 2073 c.1849G>A c.(1849-1851)Gag>Aag p.E617K NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 617 Fibronectin type-III. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 GCCCAGCCCTCCGCAGAGTAG 0.692000 11 39 0 0 0.001855 0 0 ZFX 7543 broad.mit.edu 37 X 24228474 24228474 + Nonsense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:24228474A>T ENST00000379177.1 + 11 1826 c.1399A>T c.(1399-1401)Aag>Tag p.K467* ZFX_ENST00000539115.1_Nonsense_Mutation_p.K238*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.K417*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.K506*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.K467*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.K467* NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CACTACCAACAAGAAGATAAG 0.453000 37 6 0 0 0.004289 0 0 PAIP1 10605 broad.mit.edu 37 5 43529903 43529903 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:43529903G>A ENST00000306846.3 - 10 1563 c.1331C>T c.(1330-1332)tCc>tTc p.S444F PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000338972.4_Missense_Mutation_p.S332F|PAIP1_ENST00000436644.2_Missense_Mutation_p.S365F NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 444 PABPC1-interacting motif-1 (PAM1). mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) ACCAGCCCCGGATAAATCTGT 0.353000 31 61 0 0 0.003271 0 0 SNHG14 104472715 broad.mit.edu 37 15 25453283 25453283 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25453283C>T ENST00000424208.1 + 0 2384 SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.522000 95 150 0 0 0.003610 0 0 CFTR 1080 broad.mit.edu 37 7 117230474 117230474 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:117230474G>A ENST00000003084.6 + 13 1879 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K CFTR_ENST00000454343.1_Missense_Mutation_p.E522K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 583 ABC transporter 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) TGTTTTAACAGAAAAAGAAAT 0.284000 Cystic Fibrosis 28 59 0 0 0.002836 0 0 OGFR 11054 broad.mit.edu 37 20 61443801 61443801 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:61443801C>T ENST00000370461.1 + 5 2955 c.678C>T c.(676-678)ttC>ttT p.F226F OGFR_ENST00000370468.3_Silent_p.F278F|OGFR_ENST00000290291.6_Silent_p.F278F Q9NZT2 OGFR_HUMAN opioid growth factor receptor 278 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GGGAGCACTTCCGGCCCCGCT 0.682000 4 4 0 0 0.000248 0 0 CACNA1C 775 broad.mit.edu 37 12 2705123 2705123 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:2705123C>T ENST00000399655.1 + 20 3012 c.2747C>T c.(2746-2748)tCc>tTc p.S916F CACNA1C_ENST00000399591.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S916F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S916F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S941F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S916F 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 916 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) AGCAGCATTTCCCTGGCTGCT 0.582000 21 41 0 0 0.001523 0 0 GLRA2 2742 broad.mit.edu 37 X 14627222 14627222 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:14627222C>T ENST00000218075.4 + 7 1355 c.825C>T c.(823-825)tcC>tcT p.S275S GLRA2_ENST00000443437.2_Silent_p.S186S|GLRA2_ENST00000355020.4_Silent_p.S275S NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 275 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) CCTGGGTTTCCTTTTGGATAA 0.488000 67 24 0 0 0.003610 0 0 OR8H3 390152 broad.mit.edu 37 11 55890323 55890323 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55890323A>C ENST00000313472.3 + 1 475 c.475A>C c.(475-477)Aat>Cat p.N159H NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CTCCTTTGTCAATGTGGTTTC 0.443000 62 87 0 0 0.003610 0 0 PARD3 56288 broad.mit.edu 37 10 34606123 34606123 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:34606123C>T ENST00000374789.3 - 20 3311 c.2986G>A c.(2986-2988)Gga>Aga p.G996R PARD3_ENST00000374773.1_Missense_Mutation_p.G963R|PARD3_ENST00000544292.1_Missense_Mutation_p.G709R|PARD3_ENST00000545693.1_Missense_Mutation_p.G980R|PARD3_ENST00000545260.1_Missense_Mutation_p.G906R|PARD3_ENST00000346874.4_Missense_Mutation_p.G996R|PARD3_ENST00000374788.3_Missense_Mutation_p.G993R|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.G921R|PARD3_ENST00000350537.4_Missense_Mutation_p.G950R|PARD3_ENST00000340077.5_Missense_Mutation_p.G993R|PARD3_ENST00000374790.3_Missense_Mutation_p.G936R|PARD3_ENST00000374776.1_Missense_Mutation_p.G950R NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 996 Lys-rich. GKEKK -> VELHE (in Ref. 7; BAA91366). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ttttcttttccagttttatcc 0.408000 10 33 0 0 0.006214 0 0 PTPN5 84867 broad.mit.edu 37 11 18754142 18754142 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:18754142G>A ENST00000396170.1 - 12 2494 c.1230C>T c.(1228-1230)ctC>ctT p.L410L PTPN5_ENST00000396167.2_Silent_p.L410L|PTPN5_ENST00000477854.1_Silent_p.L246L|PTPN5_ENST00000396171.4_Silent_p.L442L|PTPN5_ENST00000358540.2_Silent_p.L442L|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Silent_p.L418L NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 442 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GCCTCACCTTGAGGGAGATGA 0.587000 OREG0020824 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 117 0 0 0.007291 0 0 NF1 4763 broad.mit.edu 37 17 29665053 29665053 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:29665053C>T ENST00000358273.4 + 45 7098 c.6715C>T c.(6715-6717)Caa>Taa p.Q2239* NF1_ENST00000444181.2_Nonsense_Mutation_p.Q32*|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2218* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2239 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) ATTTGCATTCCAATATAATCC 0.328000 """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) 39 42 0 0 0.006230 0 0 AGXT 189 broad.mit.edu 37 2 241813456 241813456 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:241813456C>T ENST00000307503.3 + 6 1044 c.657C>T c.(655-657)ctC>ctT p.L219L NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 219 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) GGACCTCGCTCATCTCCTTCA 0.647000 8 39 0 0 0.008291 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806859 97806859 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:97806859G>A ENST00000358642.2 + 1 843 c.843G>A c.(841-843)acG>acA p.T281T NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TGTTTTACACGATTATAATTC 0.378000 6 49 0 0 0.001168 0 0 SLC25A3 5250 broad.mit.edu 37 12 98987795 98987795 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:98987795C>T ENST00000188376.5 + 1 393 c.39C>T c.(37-39)ccC>ccT p.P13P SLC25A3_ENST00000548847.1_Silent_p.P13P|SLC25A3_ENST00000401722.3_Silent_p.P13P|SLC25A3_ENST00000549338.1_Silent_p.P13P|SLC25A3_ENST00000552981.1_Silent_p.P13P|SLC25A3_ENST00000551265.1_Silent_p.P13P|SLC25A3_ENST00000551917.1_Silent_p.P13P|SLC25A3_ENST00000228318.3_Silent_p.P13P|SLC25A3_ENST00000547534.1_Silent_p.P13P NM_002635.3|NM_213611.2 NP_002626.1|NP_998776.1 Q00325 MPCP_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 13 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1) 16 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) GGGCGAACCCCTTCAACACGC 0.682000 11 27 0 0 0.001368 0 0 KCTD6 200845 broad.mit.edu 37 3 58486761 58486761 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:58486761G>A ENST00000355076.6 + 2 1099 c.116G>A c.(115-117)gGa>gAa p.G39E KCTD6_ENST00000490264.1_Missense_Mutation_p.G39E|KCTD6_ENST00000404589.3_Missense_Mutation_p.G39E|KCTD6_ENST00000479470.1_3'UTR NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 39 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) TCCATGCTTGGAGCTATGTTT 0.458000 36 116 0 0 0.006230 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938798 2938798 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:2938798A>C ENST00000378404.2 + 1 753 c.548A>C c.(547-549)cAc>cCc p.H183P NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 183 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) ACCAAGCTCCACGTGGCGGGC 0.657000 18 32 0 0 0.007413 0 0 DCC 1630 broad.mit.edu 37 18 50866254 50866254 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:50866254G>A ENST00000442544.2 + 15 2952 c.2336G>A c.(2335-2337)cGa>cAa p.R779Q DCC_ENST00000412726.1_Missense_Mutation_p.R627Q|DCC_ENST00000581580.1_Missense_Mutation_p.R434Q NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 779 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCAAGCAGCGATATTATTCC 0.398000 7 30 0 0 0.001984 0 0 OR56A3 390083 broad.mit.edu 37 11 5968909 5968909 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5968909C>T ENST00000329564.6 + 1 340 c.333C>T c.(331-333)ttC>ttT p.F111F NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAATTGTTTCCTAGCCATGG 0.493000 59 93 0 0 0.003610 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820755 35820755 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:35820755G>A ENST00000399989.1 + 2 721 c.442G>A c.(442-444)Gag>Aag p.E148K MAGEB16_ENST00000399985.1_Missense_Mutation_p.E148K|MAGEB16_ENST00000399988.1_Missense_Mutation_p.E148K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E180K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E148K NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 148 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CAAAGATGATGAGAGCCACTT 0.448000 44 12 0 0 0.002852 0 0 DEFA6 1671 broad.mit.edu 37 8 6783482 6783482 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:6783482C>T ENST00000297436.2 - 1 116 c.76G>A c.(76-78)Gat>Aat p.D26N NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 26 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AGTGGATCATCCTCAGCTTGG 0.582000 11 23 0 0 0.008291 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60990935 60990935 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:60990935G>A ENST00000252998.1 - 7 609 c.453C>T c.(451-453)tcC>tcT p.S151S NM_080833.2 NP_543023.2 RBBP8 N-terminal like AGCCACCAGGGGAGGGGAGCA 0.692000 7 16 0 0 0.003080 0 0 CSMD1 64478 broad.mit.edu 37 8 2910139 2910139 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:2910139C>T ENST00000602557.1 - 51 8063 c.7508G>A c.(7507-7509)gGa>gAa p.G2503E CSMD1_ENST00000602723.1_Missense_Mutation_p.G2503E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2502E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2503E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2502E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2503E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2503 Sushi 15. 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) TGAACCGTTTCCTGGGGATTC 0.418000 13 19 0 0 0.007413 0 0 RGS7 6000 broad.mit.edu 37 1 241099944 241099944 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:241099944G>A ENST00000366565.1 - 5 670 c.289C>T c.(289-291)Cat>Tat p.H97Y RGS7_ENST00000407727.1_Missense_Mutation_p.H97Y|RGS7_ENST00000366562.4_Missense_Mutation_p.H97Y|RGS7_ENST00000331110.7_Missense_Mutation_p.H71Y|RGS7_ENST00000366563.1_Missense_Mutation_p.H97Y|RGS7_ENST00000366564.1_Missense_Mutation_p.H97Y|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Missense_Mutation_p.H13Y|RGS7_ENST00000348120.2_Intron NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 97 DEP. 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|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTGAGGACATGATCTGAGATT 0.398000 64 101 0 0 0.003610 0 0 FOSB 2354 broad.mit.edu 37 19 45975997 45975997 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:45975997G>A ENST00000353609.3 + 4 1336 c.744G>A c.(742-744)aaG>aaA p.K248K FOSB_ENST00000586615.1_Silent_p.K199K|FOSB_ENST00000592811.1_Intron|FOSB_ENST00000592436.1_Intron|FOSB_ENST00000585836.1_Silent_p.K173K|FOSB_ENST00000591858.1_Silent_p.K209K|FOSB_ENST00000443841.2_Silent_p.K105K|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000417353.2_Silent_p.K212K NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 248 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CACCGGCTAAGGAAGATGGCT 0.677000 12 30 0 0 0.000978 0 0 CENPV 201161 broad.mit.edu 37 17 16256435 16256435 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:16256435G>A ENST00000299736.4 - 1 378 c.316C>T c.(316-318)Ctg>Ttg p.L106L CENPV_ENST00000476243.1_5'UTR NM_181716.2 NP_859067.2 Q7Z7K6 CENPV_HUMAN centromere protein V 109 cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone carbon-sulfur lyase activity endometrium(1)|large_intestine(2) 3 CCCAGGTCCAGGTTGGACGCC 0.731000 3 17 0 0 0.000248 0 0 IPCEF1 26034 broad.mit.edu 37 6 154567864 154567864 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:154567864G>A ENST00000265198.4 - 5 259 c.104C>T c.(103-105)tCg>tTg p.S35L IPCEF1_ENST00000367220.4_Missense_Mutation_p.S36L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S7L|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S36L|OPRM1_ENST00000337049.4_Missense_Mutation_p.R401Q 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 ATCTTTACACGATATCCTCCT 0.403000 28 42 0 0 0.007291 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408447 2408447 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:2408447C>T ENST00000332578.3 + 7 834 c.834C>T c.(832-834)atC>atT p.I278I NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 278 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) TGGTCCAGATCGTCAAGCACC 0.667000 31 58 0 0 0.003271 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95442568 95442568 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:95442568C>T ENST00000324972.6 + 4 477 c.284C>T c.(283-285)cCt>cTt p.P95L DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P78L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P78L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P78L|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P78L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P95L|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.P78L NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 95 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GTCCCAACCCCTATGTCTCCC 0.458000 30 47 0 0 0.007291 0 0 AMZ1 155185 broad.mit.edu 37 7 2752457 2752457 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:2752457G>A ENST00000312371.4 + 7 1810 c.1442G>A c.(1441-1443)cGa>cAa p.R481Q AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 481 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) CTGAGTGCCCGAAAACTCGCC 0.657000 29 31 0 0 0.002836 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145726099 145726099 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:145726099G>A ENST00000292539.4 + 8 1779 c.862G>A c.(862-864)Ggg>Agg p.G288R PPP1R16A_ENST00000435887.1_Missense_Mutation_p.G288R Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 288 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGTGGCGCACGGGGCCGACCT 0.721000 22 24 0 0 0.003330 0 0 PASD1 139135 broad.mit.edu 37 X 150832597 150832597 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:150832597C>T ENST00000370357.4 + 11 1093 c.848C>T c.(847-849)tCc>tTc p.S283F NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 283 nucleus signal transducer activity p.S283F(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TCAGCCTTATCCTTGCAAGAC 0.473000 40 11 0 0 0.002222 0 0 DNAH11 8701 broad.mit.edu 37 7 21678570 21678570 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:21678570G>A ENST00000328843.6 + 28 4877 c.4846G>A c.(4846-4848)Gaa>Aaa p.E1616K DNAH11_ENST00000409508.3_Missense_Mutation_p.E1611K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1616 Stem (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 TTCTCTTTGTGAAAAAGCTCT 0.398000 Kartagener syndrome 35 69 0 0 0.003271 0 0 NAT10 55226 broad.mit.edu 37 11 34161016 34161016 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:34161016G>A ENST00000257829.3 + 23 2599 c.2393G>A c.(2392-2394)aGg>aAg p.R798K NAT10_ENST00000531159.2_Missense_Mutation_p.R726K|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 798 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) ATTCAGAACAGGAACATGGGG 0.592000 31 111 0 0 0.002096 0 0 IL1RN 3557 broad.mit.edu 37 2 113890433 113890433 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:113890433C>T ENST00000361779.3 + 6 762 c.417C>T c.(415-417)ttC>ttT p.F139F IL1RN_ENST00000354115.2_Silent_p.F155F|IL1RN_ENST00000409930.3_Silent_p.F173F|IL1RN_ENST00000409052.1_Silent_p.F139F|IL1RN_ENST00000259206.5_Silent_p.F176F NM_173843.2 NP_776215.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 173 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) AATTCTACTTCCAGGAGGACG 0.607000 Lichen Sclerosis et Atrophicus, Familial Clustering of 40 46 0 0 0.008740 0 0 MICALL2 79778 broad.mit.edu 37 7 1484874 1484874 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:1484874C>T ENST00000297508.7 - 6 1007 c.832G>A c.(832-834)Gag>Aag p.E278K MICALL2_ENST00000405088.4_Missense_Mutation_p.E66K NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 278 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TTGTTTGCCTCCTGGGCCTTC 0.677000 7 18 0 0 0.003080 0 0 TLR4 7099 broad.mit.edu 37 9 120475597 120475597 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:120475597G>A ENST00000355622.6 + 3 1292 c.1191G>A c.(1189-1191)ggG>ggA p.G397G TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.G357G NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 397 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GTGATTTTGGGACAACCAGCC 0.393000 18 7 0 0 0.004990 0 0 DDX3X 1654 broad.mit.edu 37 X 41203370 41203370 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:41203370G>A ENST00000399959.2 + 9 1708 c.853G>A c.(853-855)Gaa>Aaa p.E285K DDX3X_ENST00000542215.1_Missense_Mutation_p.G300E|DDX3X_ENST00000457138.2_Missense_Mutation_p.E269K|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 285 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GATCTACGAGGAAGCCAGAAA 0.363000 HNSCC(61;0.18) 6 3 0 0 0.001984 0 0 FAM213A 84293 broad.mit.edu 37 10 82185750 82185750 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:82185750C>T ENST00000372181.1 + 3 869 c.399C>T c.(397-399)ttC>ttT p.F133F FAM213A_ENST00000372187.5_Silent_p.F133F|FAM213A_ENST00000372185.1_Silent_p.F122F|FAM213A_ENST00000372188.1_Silent_p.F133F NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 133 extracellular region GAGAAATCTTCCTGGATGAAA 0.512000 17 70 0 0 0.008871 0 0 TFEB 7942 broad.mit.edu 37 6 41652539 41652539 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:41652539G>A ENST00000230323.4 - 10 1530 c.1229C>T c.(1228-1230)cCc>cTc p.P410L TFEB_ENST00000358871.2_Missense_Mutation_p.P424L|TFEB_ENST00000420312.1_Missense_Mutation_p.P325L|TFEB_ENST00000373033.1_Missense_Mutation_p.P410L|TFEB_ENST00000403298.4_Missense_Mutation_p.P410L NM_001271945.1|NM_007162.2 NP_001258874.1|NP_009093.1 P19484 TFEB_HUMAN transcription factor EB 410 Pro-rich. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GTAGCCCGGGGGACCCTCGTC 0.672000 T ALPHA renal (childhood epithelioid) 16 34 0 0 0.006122 0 0 FREM2 341640 broad.mit.edu 37 13 39264977 39264977 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:39264977C>T ENST00000280481.7 + 1 3712 c.3496C>T c.(3496-3498)Cgt>Tgt p.R1166C NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1166 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATTTGTATTTCGTTGTTCTGA 0.418000 49 103 0 0 0.003610 0 0 DAPK1 1612 broad.mit.edu 37 9 90321520 90321520 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:90321520C>T ENST00000469640.2 + 27 3984 c.3609C>T c.(3607-3609)aaC>aaT p.N1203N DAPK1_ENST00000491893.1_Silent_p.N1112N|DAPK1_ENST00000408954.3_Silent_p.N1178N|DAPK1_ENST00000358077.5_Silent_p.N1178N|DAPK1_ENST00000472284.1_Silent_p.N1178N P53355 DAPK1_HUMAN death-associated protein kinase 1 1178 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 AGCTGGCCAACCGTGGGGCCG 0.642000 Chronic Lymphocytic Leukemia, Familial Clustering of 10 5 0 0 0.006214 0 0 OR4C16 219428 broad.mit.edu 37 11 55340347 55340347 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55340347C>T ENST00000314634.3 + 1 744 c.744C>T c.(742-744)ttC>ttT p.F248F NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TCATCTTGTTCTTTGGACCTT 0.403000 31 28 0 0 0.002445 0 0 SHROOM3 57619 broad.mit.edu 37 4 77676179 77676179 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:77676179C>T ENST00000296043.6 + 7 5496 c.4543C>T c.(4543-4545)Ccc>Tcc p.P1515S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1515 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGATCCGCACCCCAAGGCCAC 0.587000 26 41 0 0 0.008361 0 0 RGS18 64407 broad.mit.edu 37 1 192153614 192153614 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:192153614G>T ENST00000367460.3 + 5 819 c.638G>T c.(637-639)aGg>aTg p.R213M NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 213 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACAAATCTTAGGAGACGATCA 0.363000 32 35 6.04164e-23 6.76555e-23 0.002096 1 0 OR6C2 341416 broad.mit.edu 37 12 55846322 55846322 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:55846322G>A ENST00000322678.1 + 1 325 c.325G>A c.(325-327)Gaa>Aaa p.E109K RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 109 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 TGGAGCAACAGAATTTTTTCT 0.403000 59 77 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9057605 9057605 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9057605C>T ENST00000397910.4 - 3 30044 c.29841G>A c.(29839-29841)atG>atA p.M9947I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9949 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 ATTCTGACATCATGGATGAGG 0.478000 129 190 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47880064 47880064 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:47880064G>A ENST00000289672.2 - 35 5597 c.5547C>T c.(5545-5547)atC>atT p.I1849I NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1849 PLAT. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AATACCTCAGGATAAAGGTGT 0.403000 13 47 0 0 0.001368 0 0 FAM170A 340069 broad.mit.edu 37 5 118969733 118969733 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:118969733C>T ENST00000515256.1 + 3 462 c.290C>T c.(289-291)cCc>cTc p.P97L A1A519 F170A_HUMAN family with sequence similarity 170, member A 97 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 GAGACTCCTCCCCGCTCACAA 0.483000 26 26 0 0 0.004656 0 0 SNTG1 54212 broad.mit.edu 37 8 51617288 51617288 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:51617288C>T ENST00000522124.1 + 16 1828 c.1167C>T c.(1165-1167)acC>acT p.T389T SNTG1_ENST00000517473.1_Silent_p.T389T|SNTG1_ENST00000518864.1_Silent_p.T389T|SNTG1_ENST00000276467.5_Silent_p.T389T NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 389 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AGACAGCAACCTTTCTAGAAG 0.522000 18 23 0 0 0.007413 0 0 FRAS1 80144 broad.mit.edu 37 4 79205703 79205703 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:79205703G>A ENST00000264895.6 + 13 1839 c.e13+1 FRAS1_ENST00000325942.6_Splice_Site|FRAS1_ENST00000264899.6_Splice_Site NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 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 CTCTGTTTAGGTATGGCTCCA 0.498000 38 72 0 0 0.004289 0 0 SLC36A3 285641 broad.mit.edu 37 5 150682794 150682794 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:150682794C>T ENST00000335230.3 - 1 533 c.122G>A c.(121-123)gGa>gAa p.G41E SLC36A3_ENST00000377713.3_Missense_Mutation_p.G41E NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 41 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTACGATAGTCCAGCTTCTCC 0.512000 6 41 0 0 0.001984 0 0 COL6A3 1293 broad.mit.edu 37 2 238259801 238259801 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:238259801C>T ENST00000295550.4 - 27 7240 c.6788G>A c.(6787-6789)cGa>cAa p.R2263Q COL6A3_ENST00000409809.1_Missense_Mutation_p.R2057Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R2057Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R2062Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R2063Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1656Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2263 Collagen-like 4.|Triple-helical region. 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) GGTTCTGCCTCGTTCTCCAGG 0.567000 28 33 0 0 0.002096 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65235725 65235725 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:65235725G>A ENST00000380230.3 + 11 1041 c.1012G>A c.(1012-1014)Gac>Aac p.D338N ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D338N|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D338N|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D247N NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 338 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CGCCTGGCAGGACATAGCAGA 0.552000 124 198 0 0 0.003610 0 0 UNC93A 54346 broad.mit.edu 37 6 167711546 167711546 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:167711546G>A ENST00000230256.3 + 4 788 c.613G>A c.(613-615)Ggc>Agc p.G205S UNC93A_ENST00000366829.2_Intron NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 205 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CACCCTCCTGGGCATCTACAC 0.617000 29 44 0 0 0.002445 0 0 NLRP5 126206 broad.mit.edu 37 19 56539218 56539218 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56539218G>A ENST00000390649.3 + 7 1619 c.1619G>A c.(1618-1620)tGg>tAg p.W540* NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 540 NACHT. mitochondrion|nucleolus ATP binding p.W540*(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGGGAGTGTGGAATAGGAAG 0.552000 9 19 0 0 0.006214 0 0 P4HA1 5033 broad.mit.edu 37 10 74806829 74806829 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:74806829G>A ENST00000412021.2 - 9 1264 c.931C>T c.(931-933)Cgc>Tgc p.R311C P4HA1_ENST00000263556.3_Missense_Mutation_p.R311C|P4HA1_ENST00000307116.2_Missense_Mutation_p.R311C|P4HA1_ENST00000373008.2_Missense_Mutation_p.R311C|P4HA1_ENST00000394890.2_Missense_Mutation_p.R311C|P4HA1_ENST00000440381.1_Missense_Mutation_p.R311C NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 311 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCATGGTAGCGGCAAAAGAGT 0.353000 19 24 0 0 0.008871 0 0 ITGA8 8516 broad.mit.edu 37 10 15639292 15639292 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:15639292G>A ENST00000378076.3 - 21 2478 c.2125C>T c.(2125-2127)Cga>Tga p.R709* ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 709 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CTCAGTGGTCGAAATCCCTAC 0.502000 12 66 0 0 0.000978 0 0 C1QL3 389941 broad.mit.edu 37 10 16562764 16562764 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:16562764G>A ENST00000298943.3 - 1 1240 c.301C>T c.(301-303)Ctg>Ttg p.L101L NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 101 Collagen-like.|Pro-rich. collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 gggcccggcAGGCCTTGGCGG 0.806000 3 2 0 0 0.000602 0 0 HOXA2 3199 broad.mit.edu 37 7 27142044 27142044 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:27142044G>A ENST00000222718.5 - 1 386 c.76C>T c.(76-78)Ccc>Tcc p.P26S NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 26 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 GCGACAGGGGGAAAAGATGTC 0.498000 20 104 0 0 0.008871 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324626 61324626 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61324626G>A ENST00000283752.5 - 6 633 c.490C>T c.(490-492)Cct>Tct p.P164S SERPINB3_ENST00000332821.8_Missense_Mutation_p.P164S|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 164 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TTACCTTCAGGAATTAGGTTT 0.353000 31 39 0 0 0.002445 0 0 DLGAP2 9228 broad.mit.edu 37 8 1616562 1616562 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:1616562G>A ENST00000421627.2 + 6 1772 c.1638G>A c.(1636-1638)ctG>ctA p.L546L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 625 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCAAGCCTCTGATCTCGGTGA 0.612000 4 9 0 0 0.000248 0 0 EFCAB6 64800 broad.mit.edu 37 22 43950943 43950943 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:43950943C>T ENST00000262726.7 - 27 3707 c.3454G>A c.(3454-3456)Ggc>Agc p.G1152S EFCAB6_ENST00000396231.2_Missense_Mutation_p.G1000S|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1152 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) GGCGGCGGGCCTTTGGGCATT 0.532000 11 60 0 0 0.001855 0 0 KRT33B 3884 broad.mit.edu 37 17 39522799 39522799 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:39522799G>A ENST00000251646.3 - 3 560 c.511C>T c.(511-513)Ctg>Ttg p.L171L NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 171 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity 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) GACCTGCACAGGGTCAGCTCA 0.602000 38 52 0 0 0.006230 0 0 PF4 5196 broad.mit.edu 37 4 74847172 74847172 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:74847172C>T ENST00000296029.3 - 2 350 c.180G>A c.(178-180)gtG>gtA p.V60V NM_002619.3 NP_002610.1 P02776 PLF4_HUMAN platelet factor 4 60 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding kidney(1)|lung(1) 2 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) CGGCCTTGATCACCTCCAGGC 0.622000 8 40 0 0 0.006214 0 0 FNDC1 84624 broad.mit.edu 37 6 159636168 159636168 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:159636168G>A ENST00000297267.9 + 5 852 c.652G>A c.(652-654)Gaa>Aaa p.E218K FNDC1_ENST00000340366.6_Missense_Mutation_p.E218K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 218 Fibronectin type-III 2. extracellular region p.E218K(1) 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) ACGGACACACGAAATTAAAAA 0.433000 30 48 0 0 0.002445 0 0 CDH12 1010 broad.mit.edu 37 5 21755927 21755927 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:21755927C>T ENST00000382254.1 - 14 2744 c.1658G>A c.(1657-1659)cGa>cAa p.R553Q CDH12_ENST00000504376.2_Missense_Mutation_p.R553Q|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.R513Q|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 553 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCCATTTCTTCGGGTTTCAAT 0.428000 HNSCC(59;0.17) 27 39 0 0 0.002096 0 0 NOM1 64434 broad.mit.edu 37 7 156746923 156746923 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:156746923C>T ENST00000275820.3 + 3 1254 c.1239C>T c.(1237-1239)gcC>gcT p.A413A NOM1_ENST00000460332.1_3'UTR NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 413 MIF4G. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CTGCCTCGGCCATGCCCAGCA 0.547000 18 30 0 0 0.007413 0 0 TMC5 79838 broad.mit.edu 37 16 19505676 19505676 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:19505676G>A ENST00000396229.2 + 20 3668 c.2919G>A c.(2917-2919)agG>agA p.R973R TMC5_ENST00000381414.4_Silent_p.R915R|TMC5_ENST00000564959.1_Silent_p.R656R|TMC5_ENST00000561503.1_Silent_p.R614R|TMC5_ENST00000542583.2_Silent_p.R973R|TMC5_ENST00000541464.1_Silent_p.R921R|TMC5_ENST00000219821.5_Silent_p.R727R NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 973 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 TTCTGGAAAGGAGAGAGGTGG 0.498000 17 51 0 0 0.004990 0 0 PRSS22 64063 broad.mit.edu 37 16 2903113 2903113 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:2903113C>T ENST00000161006.3 - 6 1000 c.935G>A c.(934-936)gGg>gAg p.G312E PRSS22_ENST00000571228.1_Missense_Mutation_p.G202E NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 312 proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 CGCGGCGGCCCCAGAGCCCTG 0.731000 4 6 0 0 0.000602 0 0 TNXB 7148 broad.mit.edu 37 6 32053812 32053812 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:32053812G>A ENST00000375244.3 - 7 3064 c.2863C>T c.(2863-2865)Ctc>Ttc p.L955F TNXB_ENST00000375247.2_Missense_Mutation_p.L955F P22105 TENX_HUMAN tenascin XB 1042 Fibronectin type-III 2. 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 TGCTGCAGGAGAGGAGCCTGG 0.682000 85 144 0 0 0.003610 0 0 NLRP1 22861 broad.mit.edu 37 17 5425029 5425029 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:5425029C>T ENST00000345221.3 - 13 4152 c.3598G>A c.(3598-3600)Gtg>Atg p.V1200M NLRP1_ENST00000577119.1_Missense_Mutation_p.V1170M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V1200M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V1200M|NLRP1_ENST00000354411.3_Missense_Mutation_p.V1170M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V1204M NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1200 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TGCAGCTCCACCCTGGCTGGC 0.532000 31 28 0 0 0.002096 0 0 COL4A4 1286 broad.mit.edu 37 2 227942760 227942760 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:227942760C>T ENST00000396625.3 - 25 2044 c.1837G>A c.(1837-1839)Gga>Aga p.G613R COL4A4_ENST00000329662.7_Missense_Mutation_p.G613R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 613 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) CCAGGAAATCCTTTACCACCT 0.557000 5 39 0 0 0.000602 0 0 DLEC1 9940 broad.mit.edu 37 3 38141857 38141857 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:38141857C>T ENST00000308059.6 + 19 2826 c.2805C>T c.(2803-2805)gcC>gcT p.A935A DLEC1_ENST00000346219.3_Silent_p.A935A|DLEC1_ENST00000452631.2_Silent_p.A935A Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 935 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCTTGGAGGCCCTGCACTGCC 0.592000 39 72 0 0 0.006230 0 0 CHCHD4 131474 broad.mit.edu 37 3 14154485 14154485 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:14154485C>A ENST00000295767.5 - 4 694 c.370G>T c.(370-372)Gat>Tat p.D124Y CHCHD4_ENST00000396914.3_Missense_Mutation_p.D111Y NM_144636.2 NP_653237.1 Q8N4Q1 MIA40_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 4 111 protein transport|transmembrane transport mitochondrial intermembrane space kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 tcttcctcatcctcatcctct 0.507000 9 13 5.68852e-11 6.33398e-11 0.004482 1 0 SERPINB11 89778 broad.mit.edu 37 18 61377546 61377546 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61377546G>A ENST00000544088.1 + 0 181 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TATGCTCTAAGCATGGTCCTC 0.443000 17 32 0 0 0.007413 0 0 CPNE4 131034 broad.mit.edu 37 3 131418796 131418796 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:131418796G>A ENST00000512055.1 - 8 2515 c.389C>T c.(388-390)tCc>tTc p.S130F CPNE4_ENST00000429747.1_Missense_Mutation_p.S130F|CPNE4_ENST00000512332.1_Missense_Mutation_p.S148F|CPNE4_ENST00000502818.1_Missense_Mutation_p.S148F|CPNE4_ENST00000511604.1_Missense_Mutation_p.S130F Q96A23 CPNE4_HUMAN copine IV 130 C2 1. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 CTTCAGCAAGGATTTGGACAG 0.448000 10 12 0 0 0.008291 0 0 ZNF609 23060 broad.mit.edu 37 15 64967617 64967617 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:64967617G>A ENST00000326648.3 + 4 2692 c.2564G>A c.(2563-2565)gGg>gAg p.G855E NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 855 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGGAGGATGGGGAGGGCAAG 0.512000 39 53 0 0 0.006230 0 0 PKP4 8502 broad.mit.edu 37 2 159488315 159488315 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:159488315C>T ENST00000389757.3 + 8 1329 c.1204C>T c.(1204-1206)Cgt>Tgt p.R402C PKP4_ENST00000389759.3_Missense_Mutation_p.R402C NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 402 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 GCAAGACCTTCGTTCTGCCGT 0.493000 HNSCC(62;0.18) 31 106 0 0 0.002445 0 0 KCTD7 154881 broad.mit.edu 37 7 66270292 66270292 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:66270292C>T ENST00000380828.2 + 10 1260 c.1106C>T c.(1105-1107)cCa>cTa p.P369L RABGEF1_ENST00000284957.5_Missense_Mutation_p.P329L|KCTD7_ENST00000451741.2_Missense_Mutation_p.P329L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P343L|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.P329L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P342L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P329L Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GGCAACCCCCCACGCCTTCAG 0.498000 31 55 0 0 0.003271 0 0 KANK2 25959 broad.mit.edu 37 19 11304039 11304039 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:11304039G>A ENST00000432929.2 - 4 1077 c.717C>T c.(715-717)ccC>ccT p.P239P KANK2_ENST00000589359.1_Silent_p.P239P|KANK2_ENST00000589894.1_Silent_p.P239P|KANK2_ENST00000586659.1_Silent_p.P239P|KANK2_ENST00000355150.5_Silent_p.P239P NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 239 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGCCCGCTGTGGGGTGGCCCA 0.642000 11 14 0 0 0.000978 0 0 HTR2C 3358 broad.mit.edu 37 X 114141243 114141243 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:114141243C>T ENST00000371950.3 + 6 1271 c.547C>T c.(547-549)Cgt>Tgt p.R183C HTR2C_ENST00000276198.1_Silent_p.F214F|HTR2C_ENST00000371951.1_Silent_p.F214F NM_001256761.1 NP_001243690.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCCAAATTTCGTTCTTATTG 0.468000 115 51 0 0 0.003610 0 0 BRWD1 54014 broad.mit.edu 37 21 40590178 40590178 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:40590178C>T ENST00000342449.3 - 31 3637 c.3559G>A c.(3559-3561)Ggc>Agc p.G1187S BRWD1_ENST00000380800.3_Missense_Mutation_p.G1187S|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000333229.2_Missense_Mutation_p.G1187S NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1187 Bromo 1. 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) TCAACAGGGCCTGCAAAAGCT 0.378000 19 10 0 0 0.001523 0 0 KIF3B 9371 broad.mit.edu 37 20 30898063 30898063 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:30898063C>T ENST00000375712.3 + 2 650 c.483C>T c.(481-483)acC>acT p.T161T NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 161 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGGATCAGACCAAAAGGCTTG 0.473000 25 53 0 0 0.003330 0 0 PROKR2 128674 broad.mit.edu 37 20 5282926 5282926 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:5282926G>A ENST00000546004.1 - 3 1161 c.915C>T c.(913-915)ttC>ttT p.F305F PROKR2_ENST00000217270.3_Silent_p.F305F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 305 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TTTCCTTCACGAACACAGTGG 0.537000 HNSCC(71;0.22) 24 53 0 0 0.002299 0 0 OR51E1 143503 broad.mit.edu 37 11 4674057 4674057 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:4674057C>T ENST00000396952.5 + 2 951 c.301C>T c.(301-303)Ctg>Ttg p.L101L OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGATGCTTGTCTGCTACAGAT 0.507000 22 38 0 0 0.001882 0 0 NRG1 3084 broad.mit.edu 37 8 32621281 32621281 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:32621281G>A ENST00000338921.4 + 13 1825 c.1308G>A c.(1306-1308)atG>atA p.M436I NRG1_ENST00000539990.1_Missense_Mutation_p.M271I|NRG1_ENST00000287842.3_Missense_Mutation_p.M425I|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000405005.2_Missense_Mutation_p.M428I|NRG1_ENST00000519301.1_Missense_Mutation_p.M378I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.M433I|NRG1_ENST00000287845.5_Missense_Mutation_p.M399I|NRG1_ENST00000287840.5_Missense_Mutation_p.M428I Q02297 NRG1_HUMAN neuregulin 1 428 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TGTCAGCCATGACCACCCCGG 0.542000 32 52 0 0 0.004289 0 0 SDF2L1 23753 broad.mit.edu 37 22 21998284 21998284 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:21998284C>T ENST00000248958.4 + 3 562 c.486C>T c.(484-486)ttC>ttT p.F162F NM_022044.2 NP_071327.2 Q9HCN8 SDF2L_HUMAN stromal cell-derived factor 2-like 1 162 MIR 3. F -> L (in Ref. 1; BAB18277). endoplasmic reticulum lumen|membrane prostate(1) 1 Colorectal(54;0.105) CTGTGCGCTTCCAGCATGTGG 0.627000 OREG0026342 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 23 0 0 0.003080 0 0 PCGF2 7703 broad.mit.edu 37 17 36896592 36896592 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:36896592C>T ENST00000580830.1 - 4 765 c.64G>A c.(64-66)Ggg>Agg p.G22R PCGF2_ENST00000581345.1_Missense_Mutation_p.G22R|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22R|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22R|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22R P35227 PCGF2_HUMAN polycomb group ring finger 2 22 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) AAGTACCCCCCGCAGAGGGCA 0.622000 33 88 0 0 0.005524 0 0 OLFML3 56944 broad.mit.edu 37 1 114523737 114523737 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:114523737C>T ENST00000369551.1 + 4 795 c.507C>T c.(505-507)ttC>ttT p.F169F OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.F169F|OLFML3_ENST00000320334.4_Silent_p.F189F Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 189 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) TGCGTGACTTCACCCTTGCCA 0.547000 20 32 0 0 0.007413 0 0 FAM47C 442444 broad.mit.edu 37 X 37027798 37027798 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:37027798C>T ENST00000358047.3 + 1 1367 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 439 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATCTCATCTCCGCCCGGAACC 0.612000 36 13 0 0 0.003755 0 0 GPATCH1 55094 broad.mit.edu 37 19 33617589 33617589 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:33617589C>T ENST00000170564.2 + 19 3029 c.2715C>T c.(2713-2715)agC>agT p.S905S NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 905 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GCAGCGACAGCCAGAGTGACG 0.488000 OREG0025410 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 59 0 0 0.001882 0 0 OBSCN 84033 broad.mit.edu 37 1 228399560 228399560 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228399560G>A ENST00000570156.2 + 2 150 c.76G>A c.(76-78)Gac>Aac p.D26N OBSCN_ENST00000422127.1_Missense_Mutation_p.D26N|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.D26N|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 26 Ig-like 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) GGTGGGCAAGGACGCCACCCT 0.697000 8 16 0 0 0.006214 0 0 CPM 1368 broad.mit.edu 37 12 69279631 69279631 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:69279631T>C ENST00000551568.1 - 3 259 c.199A>G c.(199-201)Aag>Gag p.K67E CPM_ENST00000546373.1_Missense_Mutation_p.K67E|CPM_ENST00000338356.3_Missense_Mutation_p.K67E NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 67 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CTGTGTTCCTTTGGAAACCGC 0.403000 52 89 0 0 0.003610 0 0 HHATL 57467 broad.mit.edu 37 3 42738519 42738519 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:42738519G>A ENST00000441594.1 - 8 1245 c.984C>T c.(982-984)atC>atT p.I328I HHATL_ENST00000310417.5_Silent_p.I328I NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 328 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) AGAGTGCGGTGATGCACTTGG 0.627000 16 34 0 0 0.007413 0 0 CDK3 1018 broad.mit.edu 37 17 73998186 73998186 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:73998186C>T ENST00000425876.2 + 3 366 c.278C>T c.(277-279)tCc>tTc p.S93F CDK3_ENST00000448471.1_Missense_Mutation_p.S93F|TEN1-CDK3_ENST00000567351.1_RNA Q00526 CDK3_HUMAN cyclin-dependent kinase 3 93 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 TACATGGACTCCACCCCAGGC 0.587000 19 56 0 0 0.008871 0 0 ACOX1 51 broad.mit.edu 37 17 73947504 73947504 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:73947504G>A ENST00000537812.1 - 8 1633 c.985C>T c.(985-987)Ctg>Ttg p.L329L ACOX1_ENST00000301608.4_Silent_p.L367L|ACOX1_ENST00000293217.5_Silent_p.L367L NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 367 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 ACCTCAGGCAGTTCACTCAGG 0.498000 33 69 0 0 0.002445 0 0 CCDC89 220388 broad.mit.edu 37 11 85396406 85396406 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:85396406G>A ENST00000316398.3 - 1 914 c.768C>T c.(766-768)agC>agT p.S256S NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 256 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CCTGGCTCAGGCTGCTGTGTG 0.577000 24 12 0 0 0.002299 0 0 MYOCD 93649 broad.mit.edu 37 17 12661460 12661460 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:12661460C>T ENST00000425538.1 + 12 2461 c.2261C>T c.(2260-2262)aCt>aTt p.T754I MYOCD_ENST00000343344.4_Missense_Mutation_p.T706I|MYOCD_ENST00000395988.1_Missense_Mutation_p.T658I NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 706 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) CCATCCCCAACTTTTTCTAAG 0.403000 27 23 0 0 0.004656 0 0 CFI 3426 broad.mit.edu 37 4 110662218 110662218 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:110662218G>A ENST00000394634.2 - 13 1790 c.1583C>T c.(1582-1584)cCc>cTc p.P528L CFI_ENST00000394635.3_Missense_Mutation_p.P536L|CFI_ENST00000512148.1_Missense_Mutation_p.P521L NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 528 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) ACAGACTAAGGGGCCTCCAGA 0.438000 106 162 0 0 0.003610 0 0 MKL1 57591 broad.mit.edu 37 22 40816972 40816972 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:40816972G>A ENST00000396617.3 - 10 1350 c.760C>T c.(760-762)Ccc>Tcc p.P254S MKL1_ENST00000402042.1_Missense_Mutation_p.P204S|MKL1_ENST00000355630.3_Missense_Mutation_p.P254S|MKL1_ENST00000407029.1_Missense_Mutation_p.P254S Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 254 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GAGTCCATGGGGGGTGCCCCC 0.597000 T RBM15 acute megakaryocytic leukemia 16 44 0 0 0.004990 0 0 TRPC3 7222 broad.mit.edu 37 4 122835987 122835987 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:122835987G>A ENST00000264811.5 - 3 1488 c.1070C>T c.(1069-1071)gCc>gTc p.A357V TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Missense_Mutation_p.A430V NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 345 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 AAGGCCCAGGGCCACGACCAG 0.542000 22 34 0 0 0.001882 0 0 SEMA3B 7869 broad.mit.edu 37 3 50313183 50313183 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:50313183G>A ENST00000418948.1 + 0 1987 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CGGCGTGGAGGGCAGCAGCGC 0.652000 10 24 0 0 0.008291 0 0 USP26 83844 broad.mit.edu 37 X 132161263 132161263 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:132161263G>A ENST00000511190.1 - 6 1455 c.986C>T c.(985-987)cCa>cTa p.P329L USP26_ENST00000370832.1_Missense_Mutation_p.P329L|USP26_ENST00000406273.1_Missense_Mutation_p.P329L NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 329 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TTTACCCCATGGGAAACTCTG 0.388000 24 13 0 0 0.002780 0 0 SEL1L3 23231 broad.mit.edu 37 4 25803907 25803907 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:25803907G>A ENST00000399878.3 - 11 2076 c.1954C>T c.(1954-1956)Cag>Tag p.Q652* SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.Q499*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.Q617* NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 652 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TCTCATACCTGATCTCCTTGC 0.498000 16 31 0 0 0.004007 0 0 OR11L1 391189 broad.mit.edu 37 1 248004409 248004409 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248004409G>A ENST00000355784.2 - 1 845 c.790C>T c.(790-792)Ccc>Tcc p.P264S NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AACAGGTGGGGACTGGGACAC 0.498000 25 48 0 0 0.003954 0 0 LARS 51520 broad.mit.edu 37 5 145524223 145524223 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:145524223G>A ENST00000394434.2 - 16 1719 c.1553C>T c.(1552-1554)tCg>tTg p.S518L LARS_ENST00000545646.1_Missense_Mutation_p.S472L|LARS_ENST00000510191.1_Missense_Mutation_p.S464L|LARS_ENST00000274562.9_Missense_Mutation_p.S491L NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 518 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TTCATCTGACGACCTGGACAT 0.373000 22 35 0 0 0.003954 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80239088 80239088 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:80239088G>A ENST00000450142.2 - 3 747 c.481C>T c.(481-483)Cgg>Tgg p.R161W PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R161W|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R161W|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R74W|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R161W NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 161 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 TTACCTTGCCGATTAACTTCA 0.373000 14 15 0 0 0.001855 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577052 158577052 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158577052C>T ENST00000361284.1 + 1 824 c.824C>T c.(823-825)gCc>gTc p.A275V NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CAGCTTATTGCCATGACCTAT 0.473000 104 197 0 0 0.003610 0 0 BCAR3 8412 broad.mit.edu 37 1 94041571 94041571 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:94041571C>T ENST00000370244.1 - 10 2090 c.1802_splice c.e10+1 p.R601_splice BCAR3_ENST00000370247.3_Splice_Site_p.R510_splice|BCAR3_ENST00000260502.6_Splice_Site_p.R601_splice|BCAR3_ENST00000539242.1_Splice_Site_p.R277_splice|BCAR3_ENST00000370243.1_Splice_Site_p.R601_splice NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 601 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CACTGCTCACCTTTCAATTAT 0.572000 30 34 0 0 0.006320 0 0 C1S 716 broad.mit.edu 37 12 7172504 7172504 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:7172504C>T ENST00000406697.1 + 9 1246 c.618C>T c.(616-618)atC>atT p.I206I C1S_ENST00000360817.5_Silent_p.I206I|C1S_ENST00000402681.3_Silent_p.I39I|C1S_ENST00000328916.3_Silent_p.I206I P09871 C1S_HUMAN complement component 1, s subcomponent 206 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AATACCAGATCCGGTTGGAGA 0.473000 72 104 0 0 0.003610 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152710 66152710 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:66152710G>A ENST00000489520.2 - 0 233 NR_026825.2 CACCTAATTGGATTCCCACTG 0.433000 4 6 0 0 0.000248 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181355 19181355 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:19181355C>T ENST00000375371.3 - 3 630 c.609G>A c.(607-609)tgG>tgA p.W203* RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 203 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGATCCAGTTCCAGCGGAAGT 0.642000 12 10 0 0 0.000978 0 0 AKAP9 10142 broad.mit.edu 37 7 91708885 91708885 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:91708885C>T ENST00000359028.2 + 32 7699 c.7474C>T c.(7474-7476)Cag>Tag p.Q2492* AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2492*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2480* Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2492 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCTAGAAAATCAGACATACTT 0.373000 T BRAF papillary thyroid 19 39 0 0 0.006122 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1978940 1978940 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:1978940G>A ENST00000255641.8 + 6 1025 c.530G>A c.(529-531)gGg>gAg p.G177E NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 177 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|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) GGCCGCCCGGGGACCAAGCGG 0.627000 21 38 0 0 0.002780 0 0 ARF6 382 broad.mit.edu 37 14 50360697 50360697 + Silent SNP C C T rs141035771 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:50360697C>T ENST00000298316.5 + 2 790 c.243C>T c.(241-243)acC>acT p.T81T NM_001663.3 NP_001654.1 P62330 ARF6_HUMAN ADP-ribosylation factor 6 81 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 all_epithelial(31;0.000822)|Breast(41;0.0117) ACACTGGGACCCAAGGTCTCA 0.582000 21 23 0 0 0.002780 0 0 TRIM9 114088 broad.mit.edu 37 14 51448794 51448794 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:51448794G>A ENST00000298355.3 - 8 2752 c.1631C>T c.(1630-1632)tCg>tTg p.S544L TRIM9_ENST00000338969.5_Missense_Mutation_p.S625L NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 544 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CGAGTGCGCCGAGCCAGGGTC 0.537000 15 31 0 0 0.004007 0 0 POP1 10940 broad.mit.edu 37 8 99142337 99142337 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:99142337C>T ENST00000401707.2 + 5 699 c.618C>T c.(616-618)atC>atT p.I206I POP1_ENST00000349693.3_Silent_p.I206I NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 206 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AAACTCACATCTGGCACGCCA 0.463000 14 38 0 0 0.002450 0 0 TANC1 85461 broad.mit.edu 37 2 160087161 160087161 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:160087161C>T ENST00000263635.6 + 27 5461 c.5224C>T c.(5224-5226)Cgc>Tgc p.R1742C TANC1_ENST00000454300.1_Missense_Mutation_p.R1636C NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1742 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TCCTCCAAGCCGCAGCTGGCA 0.582000 30 75 0 0 0.002445 0 0 TENM1 10178 broad.mit.edu 37 X 124097411 124097411 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:124097411C>T ENST00000422452.2 - 1 255 c.192G>A c.(190-192)agG>agA p.R64R TENM1_ENST00000371130.3_Silent_p.R64R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTACTTCTTTCCTCTTTCTAC 0.358000 97 50 0 0 0.003610 0 0 HPSE2 60495 broad.mit.edu 37 10 100249933 100249933 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:100249933G>A ENST00000370552.3 - 10 1400 c.1341C>T c.(1339-1341)ctC>ctT p.L447L HPSE2_ENST00000370546.1_Silent_p.L447L|HPSE2_ENST00000370549.1_Silent_p.L389L|HPSE2_ENST00000404542.1_Silent_p.L335L NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 447 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GGCGCTTGTAGAGGAGAGAGA 0.557000 36 42 0 0 0.003755 0 0 PDE6C 5146 broad.mit.edu 37 10 95372708 95372708 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:95372708C>T ENST00000371447.3 + 1 364 c.226C>T c.(226-228)Cca>Tca p.P76S NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 76 GAF 1. 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) GGGGGGCACCCCAGAGCAGGG 0.662000 6 33 0 0 0.001984 0 0 ACAP3 116983 broad.mit.edu 37 1 1235944 1235944 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:1235944G>A ENST00000354700.5 - 6 669 c.467C>T c.(466-468)gCc>gTc p.A156V ACAP3_ENST00000353662.3_Missense_Mutation_p.A114V NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 156 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GAGGGTGAGGGCCCCGGTGGC 0.672000 19 33 0 0 0.008871 0 0 OR5B2 390190 broad.mit.edu 37 11 58190091 58190091 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:58190091G>A ENST00000302581.2 - 1 695 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(1) NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACAAGTAGGAGATAAAGAT 0.403000 14 18 0 0 0.002450 0 0 DIDO1 11083 broad.mit.edu 37 20 61525205 61525205 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:61525205G>A ENST00000266070.4 - 12 3239 c.2914C>T c.(2914-2916)Cca>Tca p.P972S DIDO1_ENST00000395340.1_Missense_Mutation_p.P972S|DIDO1_ENST00000395335.2_Missense_Mutation_p.P972S|DIDO1_ENST00000395343.1_Missense_Mutation_p.P972S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 972 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GAACTGCTTGGAGCGGTCCTG 0.672000 34 75 0 0 0.004289 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711745 151711745 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:151711745G>A ENST00000392800.2 + 8 1297 c.1043G>A c.(1042-1044)gGc>gAc p.G348D GALNTL5_ENST00000431418.2_Missense_Mutation_p.G348D NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 348 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) ATGTGTGGAGGCCAACTCTTT 0.388000 24 56 0 0 0.004656 0 0 HLA-A 3105 broad.mit.edu 37 6 29912088 29912088 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:29912088C>T ENST00000396634.1 + 6 1150 c.809C>T c.(808-810)gCt>gTt p.A270V HLA-A_ENST00000376802.2_Missense_Mutation_p.A270V|HLA-A_ENST00000376806.5_Missense_Mutation_p.A270V|HLA-A_ENST00000376809.5_Missense_Mutation_p.A270V P30443 1A01_HUMAN major histocompatibility complex, class I, A 270 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 AAGTGGGCGGCTGTGGTGGTG 0.622000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 15 22 0 0 0.003330 0 0 INSL6 11172 broad.mit.edu 37 9 5164204 5164204 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:5164204C>T ENST00000381641.3 - 2 416 c.351G>A c.(349-351)aaG>aaA p.K117K INSL6_ENST00000510407.1_5'UTR NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 117 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) CCTTTTTATCCTTATACTCAG 0.333000 26 30 0 0 0.002445 0 0 TRAF6 7189 broad.mit.edu 37 11 36514136 36514136 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:36514136G>A ENST00000526995.1 - 6 967 c.721C>T c.(721-723)Cca>Tca p.P241S TRAF6_ENST00000348124.5_Missense_Mutation_p.P241S|TRAF6_ENST00000529150.1_5'UTR NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 241 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) AATGTGCATGGAATTGGGGCT 0.323000 19 99 0 0 0.001523 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29437927 29437927 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29437927G>A ENST00000283351.4 - 20 3099 c.2764C>T c.(2764-2766)Cct>Tct p.P922S TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P868S NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 922 ER to Golgi vesicle-mediated transport cis-Golgi network p.P922S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGCCCTGTAGGAAAATGTATA 0.333000 53 71 0 0 0.003610 0 0 FMO3 2328 broad.mit.edu 37 1 171079999 171079999 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:171079999C>T ENST00000367755.4 + 6 799 c.688C>T c.(688-690)Cct>Tct p.P230S FMO3_ENST00000538429.1_Missense_Mutation_p.P167S|FMO3_ENST00000542847.1_Missense_Mutation_p.P210S|FMO3_ENST00000392085.2_Missense_Mutation_p.P230S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 230 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) CAATGGTTATCCTTGGGACAT 0.463000 66 95 0 0 0.003610 0 0 RXFP4 339403 broad.mit.edu 37 1 155911999 155911999 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:155911999G>A ENST00000368318.3 + 1 520 c.499G>A c.(499-501)Gcg>Acg p.A167T NM_181885.2 NP_871001.1 Q8TDU9 RL3R2_HUMAN relaxin/insulin-like family peptide receptor 4 167 integral to membrane|plasma membrane angiotensin type II receptor activity endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 13 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGCAGTGTGGGCGGCGGCTGC 0.672000 41 44 0 0 0.002222 0 0 POLE 5426 broad.mit.edu 37 12 133236096 133236096 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:133236096C>T ENST00000320574.5 - 26 3104 c.e26-1 POLE_ENST00000535270.1_Splice_Site NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGTTGGCTGCCTAGAGAAAGA 0.527000 DNA polymerases (catalytic subunits) 24 34 0 0 0.002780 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229665 140229665 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140229665G>A ENST00000378122.3 + 1 2309 c.1585G>A c.(1585-1587)Gag>Aag p.E529K PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E529K|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGGAGCTGGAGCTGCTACA 0.677000 56 84 0 0 0.003610 0 0 PIK3CD 5293 broad.mit.edu 37 1 9780172 9780172 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:9780172G>A ENST00000536656.1 + 11 1445 c.1237G>A c.(1237-1239)Gag>Aag p.E413K PIK3CD_ENST00000361110.2_Missense_Mutation_p.E413K|PIK3CD_ENST00000377346.4_Missense_Mutation_p.E448K|PIK3CD_ENST00000543390.1_Missense_Mutation_p.E115K O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 448 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GTGTTCAGATGAGAAGGGCGA 0.652000 34 58 0 0 0.005524 0 0 HSD17B14 51171 broad.mit.edu 37 19 49337584 49337584 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:49337584G>A ENST00000263278.4 - 3 425 c.159C>T c.(157-159)ctC>ctT p.L53L HSD17B14_ENST00000599157.1_Silent_p.L53L NM_016246.2 NP_057330.2 Q9BPX1 DHB14_HUMAN hydroxysteroid (17-beta) dehydrogenase 14 53 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) CAGCTCCAGGGAGCTCCTGCT 0.592000 37 72 0 0 0.003755 0 0 ANKRD22 118932 broad.mit.edu 37 10 90582746 90582746 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:90582746C>T ENST00000371930.4 - 6 738 c.528G>A c.(526-528)cgG>cgA p.R176R ANKRD22_ENST00000476963.1_5'UTR NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 176 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) ATTTTAATCTCCGTGCAATAT 0.403000 48 56 0 0 0.003610 0 0 SNRPN 6638 broad.mit.edu 37 15 25222117 25222117 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25222117C>T ENST00000444203.2 + 5 1412 c.373C>T c.(373-375)Ccc>Tcc p.P125S SNRPN_ENST00000346403.6_Missense_Mutation_p.P121S|SNRPN_ENST00000400097.1_Missense_Mutation_p.P121S|SNRPN_ENST00000390687.4_Missense_Mutation_p.P121S|SNRPN_ENST00000400098.1_Missense_Mutation_p.P121S|SNRPN_ENST00000577565.1_Missense_Mutation_p.P121S|SNRPN_ENST00000400100.1_Missense_Mutation_p.P121S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.P125S P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 121 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TGTGCCAATTCCCCAGGCCCC 0.582000 Prader-Willi syndrome 34 51 0 0 0.002836 0 0 C1RL 51279 broad.mit.edu 37 12 7260858 7260858 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:7260858C>A ENST00000266542.4 - 2 381 c.289G>T c.(289-291)Gac>Tac p.D97Y C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.D97Y|C1RL_ENST00000544702.1_Missense_Mutation_p.D97Y|C1RL-AS1_ENST00000435921.2_RNA NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 97 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTGACAGAGTCCCCTGCACAG 0.642000 18 25 1.56452e-12 1.74309e-12 0.007413 1 0 TSSC1 7260 broad.mit.edu 37 2 3197850 3197850 + Silent SNP G G A rs148363289 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:3197850G>A ENST00000398659.4 - 8 962 c.822C>T c.(820-822)tgC>tgT p.C274C TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Silent_p.C247C Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 247 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) AGTCGTCTCCGCAGCTGGCCA 0.572000 51 44 0 0 0.003610 0 0 KIAA1328 57536 broad.mit.edu 37 18 34753043 34753043 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:34753043C>T ENST00000591619.1 + 9 2296 c.1511_splice c.e9+1 p.R504_splice KIAA1328_ENST00000435985.2_Splice_Site_p.R260_splice|KIAA1328_ENST00000280020.5_Splice_Site_p.R508_splice|KIAA1328_ENST00000543923.1_Splice_Site_p.R400_splice|KIAA1328_ENST00000586135.1_Splice_Site_p.R260_splice Q86T90 K1328_HUMAN KIAA1328 508 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) CACCACCTCCCGGTAAGCTTC 0.393000 41 52 0 0 0.007835 0 0 FAM160B1 57700 broad.mit.edu 37 10 116620595 116620595 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:116620595C>T ENST00000369248.4 + 15 2370 c.2035C>T c.(2035-2037)Cct>Tct p.P679S FAM160B1_ENST00000369250.3_Missense_Mutation_p.P679S NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 679 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 CCTTTTGGATCCTTACGTGAA 0.418000 30 125 0 0 0.002445 0 0 CHD6 84181 broad.mit.edu 37 20 40113090 40113090 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:40113090G>A ENST00000373233.3 - 15 2336 c.2159C>T c.(2158-2160)tCc>tTc p.S720F CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 720 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGTCAGGAAGGAAAAGTTCTT 0.473000 51 94 0 0 0.003610 0 0 TBX22 50945 broad.mit.edu 37 X 79281235 79281235 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:79281235C>T ENST00000442340.1 + 5 722 c.232C>T c.(232-234)Cgc>Tgc p.R78C TBX22_ENST00000373294.5_Missense_Mutation_p.R198C|TBX22_ENST00000373296.3_Missense_Mutation_p.R198C|TBX22_ENST00000373291.1_Missense_Mutation_p.R78C NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 198 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGCTTTGATCGCATGAAACT 0.527000 5 10 0 0 0.000602 0 0 NLRP10 338322 broad.mit.edu 37 11 7981739 7981739 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7981739G>A ENST00000328600.2 - 2 1581 c.1420C>T c.(1420-1422)Cat>Tat p.H474Y NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 474 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GACATGGCATGAAAAAAGTCC 0.532000 50 72 0 0 0.003610 0 0 TACC2 10579 broad.mit.edu 37 10 124008235 124008235 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:124008235G>A ENST00000369005.1 + 20 8810 c.8470G>A c.(8470-8472)Gac>Aac p.D2824N TACC2_ENST00000513429.1_Missense_Mutation_p.D970N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2824N|TACC2_ENST00000515603.1_Missense_Mutation_p.D2702N|TACC2_ENST00000453444.2_Missense_Mutation_p.D2751N|TACC2_ENST00000369000.1_Missense_Mutation_p.D447N|TACC2_ENST00000260733.3_Missense_Mutation_p.D902N|TACC2_ENST00000358010.1_Missense_Mutation_p.D970N|TACC2_ENST00000515273.1_Missense_Mutation_p.D2751N|TACC2_ENST00000369004.3_Missense_Mutation_p.D884N|TACC2_ENST00000360561.3_Missense_Mutation_p.D872N|TACC2_ENST00000368999.1_Missense_Mutation_p.D914N|TACC2_ENST00000369001.1_Missense_Mutation_p.D451N NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2824 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGCCCTGGCCGACCTGAACTC 0.572000 64 75 0 0 0.003610 0 0 CDH6 1004 broad.mit.edu 37 5 31323218 31323218 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:31323218G>A ENST00000265071.2 + 12 2441 c.2176G>A c.(2176-2178)Gac>Aac p.D726N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 726 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 AAATGACACGGACCCCACTGC 0.567000 15 30 0 0 0.004007 0 0 TTC40 54777 broad.mit.edu 37 10 134754509 134754509 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:134754509C>T ENST00000368586.5 - 4 462 c.362G>A c.(361-363)gGa>gAa p.G121E TTC40_ENST00000368585.3_Missense_Mutation_p.G121E|TTC40_ENST00000368582.2_Missense_Mutation_p.G121E NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCTCGGTTCTCCTTTGGCAAA 0.428000 OREG0020643 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 23 0 0 0.008871 0 0 LAMA2 3908 broad.mit.edu 37 6 129637235 129637235 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:129637235G>A ENST00000421865.2 + 27 4026 c.3977G>A c.(3976-3978)cGa>cAa p.R1326Q NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1326 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.R1326Q(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACTGTGACCCGAGAAGACTTC 0.338000 36 43 0 0 0.004878 0 0 CNGA3 1261 broad.mit.edu 37 2 99012514 99012514 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:99012514G>A ENST00000393504.1 + 8 1298 c.881G>A c.(880-882)aGg>aAg p.R294K CNGA3_ENST00000436404.2_Missense_Mutation_p.R276K|CNGA3_ENST00000409937.1_Missense_Mutation_p.R298K|CNGA3_ENST00000272602.2_Missense_Mutation_p.R294K NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 294 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 ACAGAGACAAGGACCAACTAC 0.463000 16 29 0 0 0.003163 0 0 FLT4 2324 broad.mit.edu 37 5 180043463 180043463 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:180043463C>T ENST00000261937.6 - 23 3201 c.3123G>A c.(3121-3123)cgG>cgA p.R1041R FLT4_ENST00000502649.1_Silent_p.R1041R|FLT4_ENST00000393347.3_Silent_p.R1041R NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1041 Protein kinase. R -> P (in LMPH1A; loss of kinase activity). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCAGAATGTTCCGAGCAGCCA 0.617000 18 22 0 0 0.001882 0 0 IL16 3603 broad.mit.edu 37 15 81578073 81578073 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:81578073C>T ENST00000394660.2 + 10 1594 c.1234C>T c.(1234-1236)Cct>Tct p.P412S IL16_ENST00000302987.4_Missense_Mutation_p.P412S NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 412 Interaction with GRIN2A.|PDZ 2. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CAGTGATTCCCCTGTGCACTG 0.502000 37 56 0 0 0.004878 0 0 USP9Y 8287 broad.mit.edu 37 Y 14954236 14954236 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrY:14954236T>A ENST00000338981.3 + 38 7228 c.6283T>A c.(6283-6285)Ttt>Att p.F2095I USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 2095 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TAATGTCCTTTTTAATGTATC 0.383000 39 18 0 0 0.008740 0 0 DSG2 1829 broad.mit.edu 37 18 29122529 29122529 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29122529G>A ENST00000261590.8 + 14 2257 c.2048G>A c.(2047-2049)gGa>gAa p.G683E RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 683 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) AGTCTAGTAGGAAGAAATGGA 0.507000 27 47 0 0 0.004656 0 0 CCND2 894 broad.mit.edu 37 12 4409108 4409108 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:4409108G>A ENST00000261254.3 + 5 1072 c.803G>A c.(802-804)gGa>gAa p.G268E NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 268 G -> R (in dbSNP:rs3217921). cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) CAACGTGACGGATCCAAGTCG 0.562000 T IGL@ """NHL,CLL""" 14 30 0 0 0.002450 0 0 FNIP2 57600 broad.mit.edu 37 4 159782870 159782870 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:159782870C>T ENST00000264433.6 + 12 1482 c.1407C>T c.(1405-1407)tcC>tcT p.S469S FNIP2_ENST00000379346.3_Silent_p.S492S NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 469 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) AACGTACCTCCCAGTCAGTGA 0.493000 50 103 0 0 0.003610 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359494 70359494 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:70359494C>T ENST00000305107.6 - 2 833 c.787G>A c.(787-789)Gat>Aat p.D263N UGT2B4_ENST00000381096.3_Missense_Mutation_p.D127N|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D263N NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 263 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AATTGAAAATCCCAGTAGTTT 0.418000 31 56 0 0 0.007291 0 0 LOC440040 440040 broad.mit.edu 37 11 49598204 49598204 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:49598204C>T ENST00000527477.1 + 0 808 TCCTCCTCTTCCTTCTGCTCC 0.512000 11 14 0 0 0.001855 0 0 OR52A5 390054 broad.mit.edu 37 11 5153532 5153532 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5153532G>A ENST00000307388.1 - 1 340 c.341C>T c.(340-342)tCg>tTg p.S114L NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGGATACCCGATTCAATTGC 0.443000 14 23 0 0 0.001855 0 0 CCDC150 284992 broad.mit.edu 37 2 197586255 197586255 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:197586255C>T ENST00000389175.4 + 21 2404 c.2269C>T c.(2269-2271)Cta>Tta p.L757L CCDC150_ENST00000272831.7_Silent_p.L404L|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Silent_p.L244L NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 757 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GATTGAATCTCTACAAAAAGC 0.388000 4 10 0 0 0.000248 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032005 10032005 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:10032005G>A ENST00000396573.2 - 4 1127 c.818C>T c.(817-819)cCa>cTa p.P273L GRIN2A_ENST00000330684.3_Missense_Mutation_p.P273L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P273L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P273L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P116L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P273L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 273 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) GAGTCCCGATGGAAACTCTTT 0.557000 23 32 0 0 0.002780 0 0 SLC26A9 115019 broad.mit.edu 37 1 205890864 205890864 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:205890864G>A ENST00000367135.3 - 17 1998 c.1885C>T c.(1885-1887)Cct>Tct p.P629S SLC26A9_ENST00000367134.2_Missense_Mutation_p.P629S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P629S NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 629 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GAGCTGTCAGGGCTGAAGGTG 0.647000 6 6 0 0 0.001168 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147170 52147170 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52147170C>T ENST00000360844.6 - 5 915 c.874G>A c.(874-876)Gcc>Acc p.A292T SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 292 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GGATTGAGGGCTTTTCCCTCC 0.607000 25 46 0 0 0.005443 0 0 ZBTB2 57621 broad.mit.edu 37 6 151686991 151686991 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:151686991G>A ENST00000325144.4 - 3 1350 c.1210C>T c.(1210-1212)Cag>Tag p.Q404* NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) CGGGCAGCCTGGTTGGCCCTG 0.507000 24 48 0 0 0.003330 0 0 DOCK6 57572 broad.mit.edu 37 19 11338069 11338069 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:11338069C>T ENST00000294618.7 - 24 2910 c.2899G>A c.(2899-2901)Gac>Aac p.D967N DOCK6_ENST00000319867.7_Missense_Mutation_p.D306N NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 967 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GCAGTGATGTCGTCCAGGAAG 0.622000 9 4 0 0 0.004482 0 0 LAMA5 3911 broad.mit.edu 37 20 60892830 60892830 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:60892830C>T ENST00000252999.3 - 54 7310 c.7244G>A c.(7243-7245)aGg>aAg p.R2415K NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2415 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) CTCCTGCTTCCTTTGCTGAAG 0.572000 18 26 0 0 0.001523 0 0 PLCB4 5332 broad.mit.edu 37 20 9402010 9402010 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:9402010T>C ENST00000378501.2 + 23 2200 c.2185T>C c.(2185-2187)Ttg>Ctg p.L729L PLCB4_ENST00000378473.3_Silent_p.L741L|PLCB4_ENST00000334005.3_Silent_p.L729L|PLCB4_ENST00000278655.4_Silent_p.L729L|PLCB4_ENST00000414679.2_Silent_p.L741L|PLCB4_ENST00000378493.1_Silent_p.L729L|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 729 C2. 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 TATGTATGGGTTGCCCACTGA 0.408000 33 41 0 0 0.004878 0 0 DYSF 8291 broad.mit.edu 37 2 71797378 71797378 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:71797378C>T ENST00000258104.3 + 28 3222 c.2945C>T c.(2944-2946)cCc>cTc p.P982L DYSF_ENST00000410020.3_Missense_Mutation_p.P1000L|DYSF_ENST00000409366.1_Missense_Mutation_p.P983L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1013L|DYSF_ENST00000429174.2_Missense_Mutation_p.P982L|DYSF_ENST00000409582.3_Missense_Mutation_p.P999L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1000L|DYSF_ENST00000409762.1_Missense_Mutation_p.P999L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1014L|DYSF_ENST00000409744.1_Missense_Mutation_p.P969L|DYSF_ENST00000394120.2_Missense_Mutation_p.P983L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 982 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 AAGGTGCTTCCCAAGGATGAC 0.537000 25 42 0 0 0.006320 0 0 CHRNA6 8973 broad.mit.edu 37 8 42614235 42614235 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:42614235C>T ENST00000276410.2 - 3 596 c.241G>A c.(241-243)Gaa>Aaa p.E81K CHRNA6_ENST00000534622.1_Intron|CHRNA6_ENST00000530869.1_5'UTR NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 81 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAATTGGTTTCCATGATCTGG 0.393000 30 56 0 0 0.004289 0 0 THBS2 7058 broad.mit.edu 37 6 169648776 169648776 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:169648776G>A ENST00000366787.3 - 4 594 c.345C>T c.(343-345)atC>atT p.I115I NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 115 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.I115I(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CGTTGGAGACGATCTCGAACT 0.657000 28 73 0 0 0.008361 0 0 PRR19 284338 broad.mit.edu 37 19 42814694 42814694 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:42814694G>A ENST00000499536.2 + 2 1684 c.873G>A c.(871-873)ctG>ctA p.L291L PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.L291L A6NJB7 PRR19_HUMAN proline rich 19 291 Pro-rich. NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GCATCTGGCTGGTAGCCACGC 0.617000 39 70 0 0 0.007835 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904753 73904753 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:73904753G>A ENST00000342056.2 + 15 2870 c.2472G>A c.(2470-2472)agG>agA p.R824R KCNQ5_ENST00000355635.3_Silent_p.R806R|KCNQ5_ENST00000402622.2_Silent_p.R815R|KCNQ5_ENST00000414165.2_Silent_p.R695R|KCNQ5_ENST00000403813.2_Silent_p.R796R|KCNQ5_ENST00000370398.1_Silent_p.R805R|KCNQ5_ENST00000355194.4_Silent_p.R805R NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 805 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GTTCTATGAGGAAAAGCTTTG 0.483000 37 67 0 0 0.008740 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54109721 54109721 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:54109721G>A ENST00000548263.1 - 9 1164 c.1116C>T c.(1114-1116)gcC>gcT p.A372A CALCOCO1_ENST00000262059.4_Silent_p.A372A|CALCOCO1_ENST00000430117.2_Silent_p.A287A|CALCOCO1_ENST00000550804.1_Silent_p.A372A Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 372 Poly-Ala. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 TGCGGTCCCTGGCTGCTGCTG 0.597000 19 37 0 0 0.006122 0 0 ZNF594 84622 broad.mit.edu 37 17 5087191 5087191 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:5087191G>A ENST00000399604.4 - 1 501 c.361C>T c.(361-363)Cat>Tat p.H121Y ZNF594_ENST00000575779.1_Missense_Mutation_p.H121Y Q96JF6 ZN594_HUMAN zinc finger protein 594 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTTATATTATGAATTTTCTGA 0.348000 12 10 0 0 0.001855 0 0 OR2M7 391196 broad.mit.edu 37 1 248487377 248487377 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 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 85 142 0 0 0.003610 0 0 MYO7B 4648 broad.mit.edu 37 2 128351213 128351213 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:128351213C>T ENST00000389524.4 + 18 2291 c.2238C>T c.(2236-2238)ttC>ttT p.F746F MYO7B_ENST00000428314.1_Silent_p.F746F|MYO7B_ENST00000409816.2_Silent_p.F746F Q6PIF6 MYO7B_HUMAN myosin VIIB 746 IQ 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAAAAATTTTCCTGAGGGTGA 0.607000 14 56 0 0 0.003163 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960452 73960452 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:73960452G>A ENST00000373468.1 - 3 4591 c.3940C>T c.(3940-3942)Cag>Tag p.Q1314* KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.Q1314* Q5QGS0 K2022_HUMAN KIAA2022 1314 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 p.Q1314*(1) 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 GAAGGCTCCTGAAATTCCCGT 0.532000 50 18 0 0 0.003610 0 0 FMO3 2328 broad.mit.edu 37 1 171086461 171086461 + Missense_Mutation SNP C C T rs61008738 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:171086461C>T ENST00000367755.4 + 9 1589 c.1478C>T c.(1477-1479)tCg>tTg p.S493L FMO3_ENST00000538429.1_Missense_Mutation_p.S430L|FMO3_ENST00000542847.1_Missense_Mutation_p.S473L|FMO3_ENST00000392085.2_Missense_Mutation_p.S493L NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 493 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.S493*(1) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGGACCGGTCGTTGAAACCC 0.517000 24 40 0 0 0.002780 0 0 RP1L1 94137 broad.mit.edu 37 8 10470276 10470276 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:10470276C>T ENST00000382483.3 - 4 1555 c.1332G>A c.(1330-1332)ggG>ggA p.G444G NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 444 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ATCTCTCCCTCCCGGCAGTCC 0.716000 17 57 0 0 0.007413 0 0 DPPA4 55211 broad.mit.edu 37 3 109047910 109047910 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:109047910C>T ENST00000335658.6 - 6 759 c.705G>A c.(703-705)ggG>ggA p.G235G NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 235 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GGAGACTTTTCCCATGGACCA 0.522000 8 11 0 0 0.006214 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951596 119951596 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:119951596G>A ENST00000307142.4 + 4 1862 c.1666G>A c.(1666-1668)Gag>Aag p.E556K SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E556K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E556K NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 556 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 AAGCTACATCGAGGTGAGTCA 0.517000 20 54 0 0 0.001882 0 0 OR4N5 390437 broad.mit.edu 37 14 20612732 20612732 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:20612732C>T ENST00000333629.1 + 1 838 c.838C>T c.(838-840)Cct>Tct p.P280S NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 280 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) TGTCATCTTTCCTTTGATGAA 0.403000 43 107 0 0 0.002222 0 0 LRIF1 55791 broad.mit.edu 37 1 111492641 111492641 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:111492641A>G ENST00000369763.4 - 3 2091 c.1701T>C c.(1699-1701)gaT>gaC p.D567D LRIF1_ENST00000494675.1_Silent_p.D31D|LRIF1_ENST00000485275.2_Silent_p.D31D|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TAAATTCAGCATCACTCTTCA 0.378000 22 16 0 0 0.002299 0 0 LRRN1 57633 broad.mit.edu 37 3 3886591 3886591 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:3886591A>G ENST00000319331.3 + 2 1027 c.266A>G c.(265-267)gAt>gGt p.D89G SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 89 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AAGACTGTGGATGAGCTGCAG 0.448000 18 27 0 0 0.006122 0 0 KANK2 25959 broad.mit.edu 37 19 11304040 11304040 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:11304040G>A ENST00000432929.2 - 4 1076 c.716C>T c.(715-717)cCc>cTc p.P239L KANK2_ENST00000589359.1_Missense_Mutation_p.P239L|KANK2_ENST00000589894.1_Missense_Mutation_p.P239L|KANK2_ENST00000586659.1_Missense_Mutation_p.P239L|KANK2_ENST00000355150.5_Missense_Mutation_p.P239L NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 239 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCCCGCTGTGGGGTGGCCCAG 0.642000 11 14 0 0 0.000978 0 0 SLC7A11 23657 broad.mit.edu 37 4 139100404 139100404 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:139100404C>T ENST00000280612.5 - 11 1690 c.1411G>A c.(1411-1413)Gac>Aac p.D471N NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 471 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) GGTTTCTTGTCCCATATAATA 0.418000 31 50 0 0 0.002836 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750236 140750236 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140750236G>A ENST00000576222.1 + 1 406 c.275G>A c.(274-276)cGa>cAa p.R92Q PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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) CGTATAGACCGAGAGGAGATT 0.443000 58 221 0 0 0.003610 0 0 PDE6C 5146 broad.mit.edu 37 10 95372709 95372709 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:95372709C>T ENST00000371447.3 + 1 365 c.227C>T c.(226-228)cCa>cTa p.P76L NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 76 GAF 1. 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) GGGGGCACCCCAGAGCAGGGG 0.662000 6 34 0 0 0.001984 0 0 PSG7 5676 broad.mit.edu 37 19 43441217 43441217 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:43441217G>A ENST00000471557.1 - 0 113 PSG7_ENST00000446844.3_RNA|PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GAGGGGCTGAGAGGGGCCCCA 0.572000 35 71 0 0 0.002522 0 0 MS4A14 84689 broad.mit.edu 37 11 60183946 60183946 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:60183946C>T ENST00000300187.6 + 5 1782 c.1505C>T c.(1504-1506)tCt>tTt p.S502F MS4A14_ENST00000531783.1_Missense_Mutation_p.S535F|MS4A14_ENST00000531787.1_Missense_Mutation_p.S390F|MS4A14_ENST00000395005.2_Missense_Mutation_p.S485F NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 502 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 AGGAGACATTCTTTAGACGTG 0.433000 18 67 0 0 0.004990 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43750291 43750291 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:43750291G>A ENST00000389420.3 - 38 5638 c.5639C>T c.(5638-5640)tCa>tTa p.S1880L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1880 GON. 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) ACTTACCTCTGATCTTCGTAT 0.408000 9 11 0 0 0.006214 0 0 IGFN1 91156 broad.mit.edu 37 1 201195228 201195228 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:201195228C>T ENST00000335211.4 + 22 10893 c.10763C>T c.(10762-10764)cCc>cTc p.P3588L IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACCAGCCAGCCCTGGTGCATC 0.662000 10 18 0 0 0.001855 0 0 IHH 3549 broad.mit.edu 37 2 219920581 219920581 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219920581G>A ENST00000295731.5 - 3 583 c.584C>T c.(583-585)tCg>tTg p.S195L NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 195 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTGCGGCCGAGTGCTCTGT 0.667000 8 10 0 0 0.004482 0 0 ZBTB48 3104 broad.mit.edu 37 1 6649219 6649219 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:6649219C>T ENST00000377674.4 + 11 2172 c.2014C>T c.(2014-2016)Ctg>Ttg p.L672L NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 672 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) CCCAGGTGTCCTGGAGCCCTC 0.652000 22 59 0 0 0.002299 0 0 RYR2 6262 broad.mit.edu 37 1 237881821 237881821 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:237881821G>A ENST00000366574.2 + 73 10871 c.10554_splice c.e73+1 p.K3518_splice RYR2_ENST00000360064.6_Splice_Site_p.K3516_splice|RYR2_ENST00000542537.1_Splice_Site_p.K3502_splice NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3518 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) TACAAGGCAAGGTAAGCCAAA 0.294000 18 30 0 0 0.008871 0 0 ACRBP 84519 broad.mit.edu 37 12 6752722 6752722 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:6752722G>A ENST00000229243.2 - 6 1153 c.1060C>T c.(1060-1062)Ctt>Ttt p.L354F ACRBP_ENST00000414226.2_Missense_Mutation_p.L321F|ACRBP_ENST00000542357.1_5'UTR NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 354 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 CCGAAACCAAGGATCTCCTCC 0.552000 35 54 0 0 0.004289 0 0 SAMD4A 23034 broad.mit.edu 37 14 55226996 55226996 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:55226996C>T ENST00000251091.5 + 5 1335 c.1030C>T c.(1030-1032)Ccc>Tcc p.P344S SAMD4A_ENST00000555192.1_Missense_Mutation_p.P23S|SAMD4A_ENST00000392067.3_Missense_Mutation_p.P432S|SAMD4A_ENST00000357634.3_Missense_Mutation_p.P431S|SAMD4A_ENST00000554335.1_Missense_Mutation_p.P432S NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 432 SAM. positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 CCGCCGGGAGCCCCAGGCCCC 0.716000 24 40 0 0 0.002780 0 0 SNHG14 104472715 broad.mit.edu 37 15 25453235 25453235 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:25453235G>A ENST00000424208.1 + 0 2384 SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 CGGTTGGGTCGATGATGAGAA 0.532000 39 187 0 0 0.005524 0 0 MANSC1 54682 broad.mit.edu 37 12 12483519 12483519 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:12483519G>A ENST00000535902.1 - 4 1301 c.738C>T c.(736-738)acC>acT p.T246T MANSC1_ENST00000396349.3_Silent_p.T212T|MANSC1_ENST00000545735.1_Silent_p.T165T Q9H8J5 MANS1_HUMAN MANSC domain containing 1 246 Thr-rich. integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TGGGTAGAAGGGTGGCGGGCT 0.562000 21 57 0 0 0.003330 0 0 LRFN5 145581 broad.mit.edu 37 14 42356771 42356771 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:42356771G>A ENST00000554171.1 + 5 3375 c.943G>A c.(943-945)Gag>Aag p.E315K LRFN5_ENST00000298119.4_Missense_Mutation_p.E315K|LRFN5_ENST00000554120.1_Missense_Mutation_p.E315K Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 315 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGGAGACCCTGAGCCTGCAAT 0.463000 HNSCC(30;0.082) 32 50 0 0 0.002096 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901448 160901448 + Silent SNP G G A rs147284017 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:160901448G>A ENST00000283243.7 - 2 536 c.330C>T c.(328-330)ctC>ctT p.L110L PLA2R1_ENST00000392771.1_Silent_p.L110L NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 110 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTAAGGAAACGAGGGTGGAGT 0.542000 15 51 0 0 0.004007 0 0 MGAM 8972 broad.mit.edu 37 7 141763330 141763330 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:141763330G>A ENST00000475668.2 + 36 4343 c.4289G>A c.(4288-4290)gGg>gAg p.G1430E MGAM_ENST00000549489.2_Missense_Mutation_p.G1430E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1430 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) TTCGTGAATGGGGCAGTTTCT 0.498000 6 8 0 0 0.001984 0 0 RFPL1 5988 broad.mit.edu 37 22 29834853 29834853 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:29834853C>T ENST00000354373.2 + 1 282 c.73C>T c.(73-75)Ccc>Tcc p.P25S RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 25 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 GTGCACTTTTCCCCTGGCAGT 0.488000 34 68 0 0 0.004289 0 0 TNXB 7148 broad.mit.edu 37 6 32047087 32047087 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:32047087G>A ENST00000375244.3 - 11 4299 c.4098C>T c.(4096-4098)gcC>gcT p.A1366A TNXB_ENST00000375247.2_Silent_p.A1366A P22105 TENX_HUMAN tenascin XB 1453 Fibronectin type-III 6. 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 GGGACTCCGGGGCCTCCGTGC 0.642000 89 166 0 0 0.003610 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439845 150439845 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:150439845G>A ENST00000358647.3 + 3 985 c.618G>A c.(616-618)gtG>gtA p.V206V 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) TCCTGGCTGTGATTGAGAGGC 0.602000 31 48 0 0 0.008361 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257082 41257082 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:41257082T>G ENST00000307221.4 - 1 1048 c.917A>C c.(916-918)aAa>aCa p.K306T XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 306 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 ACAATTCCTTTTGGTAGACTT 0.343000 29 52 0 0 0.005443 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073189 17073189 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:17073189G>T ENST00000359963.3 - 1 511 c.252C>A c.(250-252)caC>caA p.H84Q NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 84 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATGCTGCTGGGTGCTCCAGCT 0.622000 19 42 2.94398e-08 3.26341e-08 0.007413 1 0 PGR 5241 broad.mit.edu 37 11 100999743 100999743 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:100999743G>A ENST00000325455.5 - 1 1512 c.59C>T c.(58-60)tCc>tTc p.S20F PGR_ENST00000263463.5_Missense_Mutation_p.S20F|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 20 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) GACCTCGGGGGAGGGCGGGCC 0.677000 10 4 0 0 0.006214 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807246 15807246 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:15807246G>A ENST00000550308.1 + 12 1701 c.1321G>A c.(1321-1323)Gac>Aac p.D441N CYP4F12_ENST00000324632.9_Missense_Mutation_p.D441N 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) GCAGGTCTACGACCCCTTCCG 0.547000 48 38 0 0 0.003610 0 0 MFSD1 64747 broad.mit.edu 37 3 158539415 158539415 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:158539415C>T ENST00000415822.2 + 10 1181 c.1040C>T c.(1039-1041)tCt>tTt p.S347F MFSD1_ENST00000392813.4_Missense_Mutation_p.S308F|MFSD1_ENST00000264266.8_Missense_Mutation_p.S298F NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 298 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTGGATTTTCTTCCCAGGCA 0.284000 32 57 0 0 0.006999 0 0 VPS13B 157680 broad.mit.edu 37 8 100847802 100847802 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:100847802C>T ENST00000358544.2 + 54 9964 c.9853C>T c.(9853-9855)Ccc>Tcc p.P3285S VPS13B_ENST00000357162.2_Missense_Mutation_p.P3260S|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3285 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) CAAAAAAATTCCCTCCGAGTG 0.388000 32 59 0 0 0.002836 0 0 SLC17A1 6568 broad.mit.edu 37 6 25826732 25826732 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:25826732C>T ENST00000244527.4 - 3 279 c.164G>A c.(163-165)gGt>gAt p.G55D SLC17A1_ENST00000476801.1_Missense_Mutation_p.G55D|SLC17A1_ENST00000427328.1_Missense_Mutation_p.G55D|SLC17A1_ENST00000468082.1_Missense_Mutation_p.G55D NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 55 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GTTGGGCAAACCATGTGGATC 0.408000 48 90 0 0 0.003610 0 0 GRIA3 2892 broad.mit.edu 37 X 122459933 122459933 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:122459933A>T ENST00000264357.5 + 4 857 c.565A>T c.(565-567)Aca>Tca p.T189S GRIA3_ENST00000371256.5_Missense_Mutation_p.T189S|GRIA3_ENST00000541091.1_Missense_Mutation_p.T173S|GRIA3_ENST00000542149.1_Missense_Mutation_p.T189S|GRIA3_ENST00000371251.1_Missense_Mutation_p.T189S NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 189 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CTGGCAAGTAACAGCAAGGTC 0.428000 11 15 0 0 0.000978 0 0 CD44 960 broad.mit.edu 37 11 35198190 35198190 + Missense_Mutation SNP C C T rs121909545 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:35198190C>T ENST00000263398.6 + 2 570 c.136C>T c.(136-138)Cgg>Tgg p.R46W CD44_ENST00000449691.2_Missense_Mutation_p.R46W|CD44_ENST00000437706.2_Missense_Mutation_p.R46W|CD44_ENST00000434472.2_Missense_Mutation_p.R46W|CD44_ENST00000433892.2_Missense_Mutation_p.R46W|CD44_ENST00000433354.2_Missense_Mutation_p.R46W|CD44_ENST00000415148.2_Missense_Mutation_p.R46W|CD44_ENST00000360158.4_Missense_Mutation_p.R46W|CD44_ENST00000352818.4_Missense_Mutation_p.R46W|CD44_ENST00000428726.2_Missense_Mutation_p.R46W|CD44_ENST00000278386.6_Missense_Mutation_p.R46W|CD44_ENST00000526669.2_Missense_Mutation_p.R46W|CD44_ENST00000526025.1_Missense_Mutation_p.R46W NM_001001391.1|NM_001202555.1|NM_001202556.1 NP_001001391.1|NP_001189484.1|NP_001189485.1 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 46 Link. R -> P (in In(A) antigen). cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CAGCATCTCTCGGACGGAGGC 0.478000 10 28 0 0 0.006214 0 0 GYS2 2998 broad.mit.edu 37 12 21727101 21727101 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:21727101C>T ENST00000261195.2 - 4 909 c.655G>A c.(655-657)Gat>Aat p.D219N NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 219 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTGTAGAAATCAATATTTGCT 0.408000 16 36 0 0 0.007413 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228854 57228854 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:57228854G>A ENST00000396721.2 - 2 183 c.53C>T c.(52-54)tCa>tTa p.S18L SDR16C5_ENST00000522671.1_Missense_Mutation_p.S18L|SDR16C5_ENST00000303749.3_Missense_Mutation_p.S18L Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 18 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 ACTAAACAGTGATTTTCCTAA 0.418000 18 50 0 0 0.001523 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968742 4968742 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrY:4968742C>T ENST00000333703.4 + 5 3603 c.3090C>T c.(3088-3090)acC>acT p.T1030T PCDH11Y_ENST00000215473.6_Silent_p.T1041T|PCDH11Y_ENST00000362095.5_Silent_p.T1041T NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1041 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CCGTACACACCAGACCGGTAG 0.388000 49 9 0 0 0.003610 0 0 FREM2 341640 broad.mit.edu 37 13 39454666 39454666 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:39454666G>A ENST00000280481.7 + 24 9468 c.9252G>A c.(9250-9252)aaG>aaA p.K3084K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 3084 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACCGCACCAAGAGGCAGATCC 0.587000 17 38 0 0 0.001523 0 0 UBR5 51366 broad.mit.edu 37 8 103354800 103354800 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:103354800A>G ENST00000520539.1 - 9 1605 c.999T>C c.(997-999)ggT>ggC p.G333G UBR5_ENST00000220959.4_Silent_p.G333G|UBR5_ENST00000521922.1_Silent_p.G327G NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 333 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGCTGGTAGAACCCCTTTCAT 0.458000 33 79 0 0 0.002445 0 0 SGSM1 129049 broad.mit.edu 37 22 25272680 25272680 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:25272680G>A ENST00000400358.4 + 13 1485 c.1428G>A c.(1426-1428)gaG>gaA p.E476E SGSM1_ENST00000400359.4_Silent_p.E531E NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 531 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 GCAACCATGAGAGGTATGAGG 0.547000 28 50 0 0 0.006320 0 0 ST18 9705 broad.mit.edu 37 8 53071457 53071457 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:53071457C>T ENST00000276480.7 - 15 2490 c.e15+1 NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GACTGGCCTACCTTGGCATGC 0.557000 54 80 0 0 0.003610 0 0 LOC401127 401127 broad.mit.edu 37 4 39482109 39482109 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:39482109C>T ENST00000513652.1 + 0 235 AGAGCCATGGCGATGGAGGAG 0.667000 5 9 0 0 0.001168 0 0 GRM3 2913 broad.mit.edu 37 7 86415600 86415600 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:86415600C>T ENST00000361669.2 + 3 1591 c.492C>T c.(490-492)ttC>ttT p.F164F GRM3_ENST00000439827.1_Silent_p.F164F|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Silent_p.F162F|GRM3_ENST00000536043.1_Silent_p.F36F|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 164 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCGGCTCTTCCAGATCCCTC 0.527000 69 123 0 0 0.003610 0 0 ARPP21 10777 broad.mit.edu 37 3 35781071 35781071 + Splice_Site SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:35781071T>C ENST00000187397.4 + 17 2361 c.e17+2 ARPP21_ENST00000458225.1_Splice_Site|ARPP21_ENST00000444190.1_Splice_Site|ARPP21_ENST00000337271.5_Splice_Site|ARPP21_ENST00000417925.1_Splice_Site NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 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 CCTGCACAGGTAGGTGTGCTT 0.527000 18 54 0 0 0.002299 0 0 ITK 3702 broad.mit.edu 37 5 156641321 156641321 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:156641321A>G ENST00000422843.3 + 4 597 c.445A>G c.(445-447)Acc>Gcc p.T149A CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 149 cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATATGATCCAACCAAGAATGG 0.423000 T SYK peripheral T-cell lymphoma 77 226 0 0 0.003610 0 0 MAN2A2 4122 broad.mit.edu 37 15 91461493 91461493 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:91461493C>T ENST00000360468.3 + 20 3082 c.3064C>T c.(3064-3066)Ccg>Tcg p.P1022S MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1022S|MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212S|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530S NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 1022 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCTGAACGCCCCGGCGCTCGC 0.592000 221 459 0 0 0.003610 0 0 PROM2 150696 broad.mit.edu 37 2 95941749 95941749 + Silent SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:95941749T>G ENST00000317620.9 + 3 499 c.366T>G c.(364-366)acT>acG p.T122T PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Silent_p.T122T|PROM2_ENST00000403131.2_Silent_p.T122T|PROM2_ENST00000542147.1_Silent_p.T122T NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 122 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 TGGTGCCCACTGCCGGGCTTT 0.692000 4 15 0 0 0.000602 0 0 ZNF761 388561 broad.mit.edu 37 19 53958194 53958194 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:53958194C>T ENST00000454407.1 + 0 886 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATCAAGCTTTCATTCGCATCT 0.388000 41 65 0 0 0.008740 0 0 PATL1 219988 broad.mit.edu 37 11 59423511 59423511 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:59423511G>A ENST00000300146.9 - 7 815 c.731C>T c.(730-732)tCc>tTc p.S244F NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 244 Pro-rich.|Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 ACCCAGGAGGGAAGAGTTCTA 0.428000 4 12 0 0 0.000602 0 0 GEMIN5 25929 broad.mit.edu 37 5 154278121 154278121 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:154278121G>A ENST00000285873.7 - 23 3299 c.3224C>T c.(3223-3225)gCt>gTt p.A1075V NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1075 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TACGATGGCAGCCAACTCTGC 0.532000 33 39 0 0 0.002836 0 0 NEBL 10529 broad.mit.edu 37 10 21097555 21097555 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:21097555C>T ENST00000377122.4 - 26 3041 c.2645G>A c.(2644-2646)cGa>cAa p.R882Q NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 882 Linker. 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 GGAATGGGATCGAGACCAGTG 0.423000 43 91 0 0 0.003610 0 0 SULT1C4 27233 broad.mit.edu 37 2 109002778 109002778 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:109002778C>T ENST00000272452.2 + 6 1072 c.746C>T c.(745-747)tCg>tTg p.S249L SULT1C4_ENST00000409309.3_Missense_Mutation_p.S174L NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 249 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 AACTATTCATCGATTCCTGCT 0.303000 22 64 0 0 0.005443 0 0 EML1 2009 broad.mit.edu 37 14 100331891 100331891 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:100331891C>T ENST00000262233.6 + 3 430 c.291C>T c.(289-291)gtC>gtT p.V97V EML1_ENST00000334192.4_Silent_p.V97V|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000327921.9_Silent_p.V66V NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 97 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GAACCACGGTCAACAATGGCA 0.468000 18 33 0 0 0.008871 0 0 MPP6 51678 broad.mit.edu 37 7 24703301 24703301 + Silent SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:24703301T>A ENST00000396475.2 + 7 1043 c.744T>A c.(742-744)atT>atA p.I248I MPP6_ENST00000222644.4_Silent_p.I248I|MPP6_ENST00000409761.1_Silent_p.I136I NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 248 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 AAGGAGAGATTCTTCAGATTG 0.338000 36 54 0 0 0.004878 0 0 INPP1 3628 broad.mit.edu 37 2 191235713 191235713 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:191235713C>T ENST00000392329.2 + 7 1485 c.785C>T c.(784-786)gCc>gTc p.A262V INPP1_ENST00000322522.4_Missense_Mutation_p.A262V|INPP1_ENST00000541441.1_Missense_Mutation_p.A262V NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 262 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) AGTTTTTCAGCCGTAATTAGT 0.478000 52 76 0 0 0.003610 0 0 IMPG1 3617 broad.mit.edu 37 6 76660566 76660566 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:76660566C>T ENST00000369950.3 - 13 1726 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 513 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ACCATATCTTCGCCACCTGCA 0.493000 18 34 0 0 0.004990 0 0 PRMT7 54496 broad.mit.edu 37 16 68373461 68373461 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:68373461G>A ENST00000339507.5 + 8 1571 c.741G>A c.(739-741)atG>atA p.M247I PRMT7_ENST00000449359.3_Missense_Mutation_p.M197I|PRMT7_ENST00000348497.4_Missense_Mutation_p.M173I|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Missense_Mutation_p.M197I Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 247 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) TGCTGCCCATGTTCAGGTACC 0.522000 24 15 0 0 0.005443 0 0 OR1J2 26740 broad.mit.edu 37 9 125273983 125273983 + Silent SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:125273983T>G ENST00000335302.5 + 1 903 c.903T>G c.(901-903)ctT>ctG p.L301L NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 AAGAGGCCCTTGGGAAACTCT 0.398000 32 25 0 0 0.002445 0 0 ST18 9705 broad.mit.edu 37 8 53076606 53076606 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:53076606G>A ENST00000276480.7 - 13 2023 c.1340C>T c.(1339-1341)tCc>tTc p.S447F NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 447 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTATCCTGGGACATTGCCAA 0.413000 52 86 0 0 0.003610 0 0 UTS2B 257313 broad.mit.edu 37 3 190986220 190986220 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:190986220C>T ENST00000340524.5 - 9 1131 c.345G>A c.(343-345)tgG>tgA p.W115* UTS2B_ENST00000427544.2_Nonsense_Mutation_p.W115* NM_198152.3 NP_937795.2 urotensin 2B CACAGTATTTCCAAAAGCAAG 0.323000 3 13 0 0 0.000248 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585187 70585187 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:70585187G>A ENST00000260126.3 - 10 3170 c.2464C>T c.(2464-2466)Ccg>Tcg p.P822S SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P767S NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 822 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) AAGGGCCCCGGGTAGGTCTGT 0.592000 46 68 0 0 0.003610 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099523 142099523 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:142099523G>A ENST00000390359.3 - 0 317 TCAGAGTGGAGACGGATCCCT 0.547000 21 42 0 0 0.001523 0 0 PVRL4 81607 broad.mit.edu 37 1 161049491 161049491 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:161049491C>T ENST00000368012.3 - 2 630 c.328G>A c.(328-330)Ggc>Agc p.G110S NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 110 Ig-like V-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) AGCACTGAGCCGTCCAGGGGG 0.692000 13 12 0 0 0.002450 0 0 FCGBP 8857 broad.mit.edu 37 19 40405985 40405985 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:40405985C>T ENST00000221347.6 - 10 4868 c.4861G>A c.(4861-4863)Gaa>Aaa p.E1621K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1621 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) CAGCTGTGTTCCTGGCACACC 0.642000 13 16 0 0 0.002450 0 0 MUTYH 4595 broad.mit.edu 37 1 45797756 45797756 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:45797756C>T ENST00000450313.1 - 11 1151 c.936G>A c.(934-936)gtG>gtA p.V312V MUTYH_ENST00000372115.3_Silent_p.V298V|MUTYH_ENST00000372100.5_Silent_p.V295V|MUTYH_ENST00000372104.1_Silent_p.V284V|MUTYH_ENST00000448481.1_Silent_p.V295V|MUTYH_ENST00000372110.3_Silent_p.V299V|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Silent_p.V284V|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Silent_p.V309V|MUTYH_ENST00000354383.6_Silent_p.V285V|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000355498.2_Silent_p.V284V NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 309 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GTTCCTGCTCCACCTGAGAGG 0.612000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 30 58 0 0 0.001786 0 0 DPYS 1807 broad.mit.edu 37 8 105456519 105456519 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:105456519C>T ENST00000351513.2 - 4 882 c.750G>A c.(748-750)atG>atA p.M250I NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 250 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CAGACTTGCTCATCACATGCA 0.517000 11 26 0 0 0.001368 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907791 164907791 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:164907791C>T ENST00000475390.1 - 2 1271 c.828G>A c.(826-828)agG>agA p.R276R SLITRK3_ENST00000241274.3_Silent_p.R276R O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 276 LRRCT 1. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GTTCTGTCTTCCTGATTTCTC 0.483000 HNSCC(40;0.11) 22 85 0 0 0.002299 0 0 OBSCN 84033 broad.mit.edu 37 1 228559474 228559474 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228559474G>A ENST00000570156.2 + 105 23940 c.23866G>A c.(23866-23868)Ggg>Agg p.G7956R OBSCN_ENST00000422127.1_Missense_Mutation_p.G6999R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4633R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6999 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) CAGGGACATGGGGCACCCTCA 0.701000 22 29 0 0 0.004656 0 0 NGFR 4804 broad.mit.edu 37 17 47587845 47587845 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:47587845G>A ENST00000172229.3 + 4 765 c.640G>A c.(640-642)Gag>Aag p.E214K RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E120K NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 214 Ser/Thr-rich. 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) CAGCACCCAGGAGCCTGAGGC 0.642000 25 53 0 0 0.003330 0 0 IFIT1 3434 broad.mit.edu 37 10 91162436 91162436 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:91162436G>A ENST00000546318.1 + 2 1598 c.311G>A c.(310-312)aGa>aAa p.R104K IFIT1_ENST00000371804.3_Missense_Mutation_p.R135K|LIPA_ENST00000371837.1_Intron NM_001270928.1|NM_001270929.1|NM_001270930.1 NP_001257857.1|NP_001257858.1|NP_001257859.1 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 135 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 TTCCGCTATAGAATGGAGTGT 0.483000 11 50 0 0 0.000978 0 0 LSG1 55341 broad.mit.edu 37 3 194379758 194379758 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:194379758G>A ENST00000265245.5 - 7 1001 c.687C>T c.(685-687)ttC>ttT p.F229F NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 229 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CTTCTTTTTCGAAGTACATGG 0.478000 45 125 0 0 0.002852 0 0 TNNI3K 51086 broad.mit.edu 37 1 74905258 74905258 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:74905258C>T ENST00000370891.2 + 22 2282 c.2266C>T c.(2266-2268)Ctg>Ttg p.L756L TNNI3K_ENST00000326637.3_Silent_p.L655L|FPGT-TNNI3K_ENST00000370899.3_Silent_p.L756L|FPGT-TNNI3K_ENST00000557284.1_Silent_p.L756L NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TGCTCTGTGTCTGTGGGAAAT 0.468000 25 41 0 0 0.003954 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917869 144917869 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:144917869A>G ENST00000529945.1 - 7 2345 c.1906T>C c.(1906-1908)Ttg>Ctg p.L636L PDE4DIP_ENST00000369354.3_Silent_p.L473L|PDE4DIP_ENST00000313431.9_Silent_p.L636L|PDE4DIP_ENST00000313382.9_Silent_p.L539L|PDE4DIP_ENST00000530740.1_Silent_p.L610L|PDE4DIP_ENST00000479408.2_Silent_p.L260L|PDE4DIP_ENST00000369349.3_Silent_p.L473L|PDE4DIP_ENST00000369351.3_Silent_p.L473L|PDE4DIP_ENST00000369356.4_Silent_p.L473L|PDE4DIP_ENST00000369359.4_Silent_p.L610L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 473 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) TTCTCAAGCAACATTTCATTT 0.378000 T PDGFRB MPD 74 380 0 0 0.003610 0 0 LCE1F 353137 broad.mit.edu 37 1 152748928 152748928 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:152748928G>A ENST00000334371.2 + 1 81 c.81G>A c.(79-81)ccG>ccA p.P27P NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 27 Pro-rich. keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) gccccacaccgaagtgccccc 0.657000 9 35 0 0 0.006214 0 0 F13A1 2162 broad.mit.edu 37 6 6266838 6266838 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:6266838C>T ENST00000264870.3 - 4 789 c.524G>A c.(523-525)cGa>cAa p.R175Q NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 175 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTCTGGGTTTCGACTGGTTCG 0.463000 37 49 0 0 0.005524 0 0 HSD17B3 3293 broad.mit.edu 37 9 99064372 99064372 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:99064372C>T ENST00000375263.3 - 1 62 c.15G>A c.(13-15)ctG>ctA p.L5L HSD17B3_ENST00000375262.2_Silent_p.L5L NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 5 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) AGAACTGTTCCAGGACGTCCC 0.562000 13 4 0 0 0.001368 0 0 EBF2 64641 broad.mit.edu 37 8 25718576 25718576 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:25718576C>T ENST00000520164.1 - 13 1868 c.1331G>A c.(1330-1332)gGa>gAa p.G444E EBF2_ENST00000408929.3_Missense_Mutation_p.G296E|EBF2_ENST00000535548.1_Missense_Mutation_p.G175E NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 444 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G444E(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGATTATTTCCTTGTGTTGA 0.473000 45 78 0 0 0.002222 0 0 SORL1 6653 broad.mit.edu 37 11 121477932 121477932 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:121477932C>T ENST00000260197.7 + 37 5228 c.5099C>T c.(5098-5100)tCc>tTc p.S1700F SORL1_ENST00000534286.1_Missense_Mutation_p.S610F|SORL1_ENST00000527934.1_Missense_Mutation_p.S315F|SORL1_ENST00000525532.1_Missense_Mutation_p.S644F|SORL1_ENST00000532694.1_Missense_Mutation_p.S546F NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1700 Fibronectin type-III 2. 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) ATGTGGGCCTCCCAGAGGGCT 0.453000 21 14 0 0 0.002299 0 0 C21orf58 54058 broad.mit.edu 37 21 47742624 47742624 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:47742624G>A ENST00000291691.7 - 1 1165 c.29C>T c.(28-30)tCc>tTc p.S10F C21orf58_ENST00000397685.4_5'UTR|C21orf58_ENST00000397680.1_Intron|C21orf58_ENST00000397682.3_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 10 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) CTTCCTGAGggaggttgcagg 0.572000 12 4 0 0 0.000978 0 0 ISOC2 79763 broad.mit.edu 37 19 55967752 55967752 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55967752G>A ENST00000438389.2 - 2 936 c.102C>T c.(100-102)ttC>ttT p.F34F ISOC2_ENST00000425675.2_Silent_p.F34F|ISOC2_ENST00000085068.3_Silent_p.F34F NM_001136202.1 NP_001129674.1 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 0 protein destabilization mitochondrion|nucleus catalytic activity|protein binding endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) CGATCTGTGGGAAGTAGGCGA 0.632000 15 76 0 0 0.007413 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145726100 145726100 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:145726100G>A ENST00000292539.4 + 8 1780 c.863G>A c.(862-864)gGg>gAg p.G288E PPP1R16A_ENST00000435887.1_Missense_Mutation_p.G288E Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 288 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GTGGCGCACGGGGCCGACCTG 0.726000 22 24 0 0 0.003330 0 0 HYDIN 54768 broad.mit.edu 37 16 70989284 70989284 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:70989284C>T ENST00000393567.2 - 40 6460 c.6310G>A c.(6310-6312)Gag>Aag p.E2104K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2104 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) TTACCAGCCTCCTCTCCTTCC 0.577000 8 51 0 0 0.008291 0 0 IL36B 27177 broad.mit.edu 37 2 113780347 113780347 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:113780347C>T ENST00000259213.4 - 6 506 c.399G>A c.(397-399)aaG>aaA p.K133K NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 133 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TCTTCCACTTCTTTCTACCTG 0.433000 23 41 0 0 0.002780 0 0 EPHA6 285220 broad.mit.edu 37 3 96706657 96706657 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:96706657C>T ENST00000389672.5 + 3 972 c.934C>T c.(934-936)Cct>Tct p.P312S EPHA6_ENST00000542517.1_Missense_Mutation_p.P218S|EPHA6_ENST00000470610.2_Missense_Mutation_p.P312S NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 217 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGCCATGTTTCCTGATACCAT 0.468000 9 174 0 0 0.006214 0 0 GLRB 2743 broad.mit.edu 37 4 158058004 158058004 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:158058004G>A ENST00000264428.4 + 6 846 c.576G>A c.(574-576)atG>atA p.M192I GLRB_ENST00000509282.1_Missense_Mutation_p.M192I|GLRB_ENST00000541722.1_Missense_Mutation_p.M192I|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 192 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) TGTTTCCCATGGATACACAAC 0.348000 9 41 0 0 0.006214 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232870 1232870 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:1232870G>A ENST00000324642.3 + 3 429 c.306G>A c.(304-306)ctG>ctA p.L102L SLC6A18_ENST00000296821.4_Silent_p.L102L NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 102 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCACAGGGCTGGGCTGTGTCA 0.562000 24 42 0 0 0.004656 0 0 MAP7D3 79649 broad.mit.edu 37 X 135302927 135302927 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:135302927G>A ENST00000316077.9 - 16 2703 c.2483C>T c.(2482-2484)tCa>tTa p.S828L MAP7D3_ENST00000370661.1_Missense_Mutation_p.S793L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S810L NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 828 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) GACTCACCTTGAAACTACTTC 0.353000 81 27 0 0 0.003610 0 0 LNX1 84708 broad.mit.edu 37 4 54364864 54364864 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:54364864G>A ENST00000306888.2 - 4 885 c.634C>T c.(634-636)Cgt>Tgt p.R212C LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.R308C|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 308 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACCCCATCACGATAAATGTGT 0.507000 20 31 0 0 0.001882 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718600 142718600 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:142718600A>T ENST00000381779.4 - 2 550 c.325T>A c.(325-327)Tta>Ata p.L109I SLITRK4_ENST00000356928.1_Missense_Mutation_p.L109I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L109I NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 109 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AACTGCTTTAATGCACTGAGC 0.418000 46 11 0 0 0.003610 0 0 FBXL18 80028 broad.mit.edu 37 7 5540961 5540961 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:5540961G>A ENST00000382368.3 - 3 1062 c.939C>T c.(937-939)ttC>ttT p.F313F FBXL18_ENST00000453700.3_Silent_p.F313F NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 313 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) ACGGGTTGTTGAATTTCATGT 0.597000 14 30 0 0 0.001855 0 0 TEP1 7011 broad.mit.edu 37 14 20872010 20872010 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:20872010G>A ENST00000262715.5 - 6 1106 c.1066C>T c.(1066-1068)Ccc>Tcc p.P356S TEP1_ENST00000556935.1_Intron NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 356 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) GCGGGCAGGGGCACCAGCTTA 0.537000 62 98 0 0 0.003610 0 0 OBSCN 84033 broad.mit.edu 37 1 228466963 228466963 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228466963C>G ENST00000570156.2 + 32 8575 c.8501C>G c.(8500-8502)cCc>cGc p.P2834R OBSCN_ENST00000359599.6_Missense_Mutation_p.P1252R|OBSCN_ENST00000422127.1_Missense_Mutation_p.P2405R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P2405R|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1834 Ig-like 28. 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) ACCTCCATCCCCTCAGTGCGG 0.637000 38 58 0 0 0.005524 0 0 FAT3 120114 broad.mit.edu 37 11 92565152 92565152 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:92565152G>A ENST00000298047.6 + 13 9863 c.9846G>A c.(9844-9846)ggG>ggA p.G3282G FAT3_ENST00000409404.2_Silent_p.G3282G|FAT3_ENST00000525166.1_Silent_p.G3132G Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3282 Cadherin 30. 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) ACGAACAAGGGAAATTTAAGA 0.483000 TCGA Ovarian(4;0.039) 14 58 0 0 0.002450 0 0 FBXL4 26235 broad.mit.edu 37 6 99322293 99322293 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:99322293G>A ENST00000369244.2 - 10 2155 c.1727C>T c.(1726-1728)tCc>tTc p.S576F FBXL4_ENST00000229971.1_Missense_Mutation_p.S576F Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 576 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TTTTCTTAAGGATGCCGGACT 0.348000 26 58 0 0 0.007291 0 0 DACH2 117154 broad.mit.edu 37 X 85969583 85969583 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:85969583C>T ENST00000373131.1 + 5 1088 c.925C>T c.(925-927)Ccc>Tcc p.P309S DACH2_ENST00000510272.1_Missense_Mutation_p.P103S|DACH2_ENST00000373125.4_Missense_Mutation_p.P322S|DACH2_ENST00000508860.1_Missense_Mutation_p.P155S NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GATGCCTCATCCCCTACTTCC 0.403000 41 14 0 0 0.003610 0 0 IQGAP3 128239 broad.mit.edu 37 1 156524173 156524173 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:156524173C>T ENST00000361170.2 - 13 1312 c.1302G>A c.(1300-1302)caG>caA p.Q434Q NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 434 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGAGCTCCTCCTGGCCAAGCT 0.587000 13 21 0 0 0.004990 0 0 ANKRD33 341405 broad.mit.edu 37 12 52283229 52283229 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:52283229G>A ENST00000301190.6 + 4 827 c.600G>A c.(598-600)ggG>ggA p.G200G ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Silent_p.G65G NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 65 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) ACCAGCGGGGGCTCACGGCGT 0.652000 20 32 0 0 0.002299 0 0 RLN2 6019 broad.mit.edu 37 9 5300348 5300348 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:5300348G>A ENST00000381627.3 - 2 696 c.308C>T c.(307-309)tCt>tTt p.S103F RLN2_ENST00000308420.3_3'UTR NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 103 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTGCATCTCAGACAGGGTTAA 0.368000 34 32 0 0 0.002836 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558659 129558659 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:129558659C>T ENST00000422113.2 - 9 3387 c.3061G>A c.(3061-3063)Gga>Aga p.G1021R TMEM132D_ENST00000389441.4_Missense_Mutation_p.G559R NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1021 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) ATGATGGGTCCCAAAGGTTTG 0.458000 18 84 0 0 0.006122 0 0 NAT10 55226 broad.mit.edu 37 11 34149087 34149087 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:34149087C>T ENST00000257829.3 + 12 1391 c.1185C>T c.(1183-1185)ctC>ctT p.L395L NAT10_ENST00000531159.2_Silent_p.L323L|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 395 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CCATCCCCCTCCCCTTGGTGA 0.522000 21 99 0 0 0.002780 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815487 106815487 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:106815487G>A ENST00000407775.2 + 8 3427 c.3177G>A c.(3175-3177)caG>caA p.Q1059Q RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.Q927Q|ZFPM2_ENST00000520492.1_Silent_p.Q927Q|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.Q790Q NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1059 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) CCAACCCACAGCAAGAGAACA 0.478000 9 25 0 0 0.006214 0 0 OGDHL 55753 broad.mit.edu 37 10 50964927 50964927 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:50964927G>A ENST00000374103.4 - 3 355 c.270C>T c.(268-270)ccC>ccT p.P90P OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 90 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CAACAGAAGGGGGCCGTGGCT 0.592000 36 41 0 0 0.004289 0 0 MIR551B 693136 broad.mit.edu 37 3 168269663 168269663 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:168269663G>A ENST00000384984.1 + 0 22 NR_030294.1 CCTGGCCCATGAAATCAAGCG 0.458000 23 40 0 0 0.002299 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65851053 65851053 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:65851053C>T ENST00000261875.5 + 5 571 c.405C>T c.(403-405)agC>agT p.S135S PTPLAD1_ENST00000569894.1_Silent_p.S18S|PTPLAD1_ENST00000565299.1_Silent_p.S173S|PTPLAD1_ENST00000568793.1_Silent_p.S110S|PTPLAD1_ENST00000562901.1_Silent_p.S18S|PTPLAD1_ENST00000566074.1_Silent_p.S18S|PTPLAD1_ENST00000442729.2_Silent_p.S80S|PTPLAD1_ENST00000566511.1_Silent_p.S18S NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 135 activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 GACTGGAAAGCGAAGGCTCTC 0.428000 12 9 0 0 0.002450 0 0 ZNF280D 54816 broad.mit.edu 37 15 56970922 56970922 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:56970922G>A ENST00000559237.1 - 10 1746 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72S|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355S|ZNF280D_ENST00000267807.7_Missense_Mutation_p.P368S NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) AATGGTGTGGGAAACTGACGG 0.408000 26 46 0 0 0.008361 0 0 ZNF479 90827 broad.mit.edu 37 7 57194383 57194383 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:57194383C>T ENST00000331162.4 - 3 352 c.82G>A c.(82-84)Gag>Aag p.E28K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TGCCATTCCTCCAGAGAGAAT 0.438000 23 37 0 0 0.003330 0 0 UNC79 57578 broad.mit.edu 37 14 94053162 94053162 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:94053162G>A ENST00000553484.1 + 22 3094 c.2940G>A c.(2938-2940)aaG>aaA p.K980K UNC79_ENST00000256339.4_Silent_p.K803K|UNC79_ENST00000555664.1_Silent_p.K980K|UNC79_ENST00000393151.2_Silent_p.K980K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 980 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATTGCCTGAAGATTCTCTGTC 0.368000 41 89 0 0 0.006999 0 0 LGR5 8549 broad.mit.edu 37 12 71977724 71977724 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:71977724T>A ENST00000266674.5 + 18 2245 c.1934T>A c.(1933-1935)aTt>aAt p.I645N LGR5_ENST00000540815.2_Missense_Mutation_p.I621N|LGR5_ENST00000536515.1_Missense_Mutation_p.I573N O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 645 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 TTTTTGTCCATTTTTGCTTCA 0.473000 180 346 0 0 0.003610 0 0 BRCA2 675 broad.mit.edu 37 13 32930714 32930714 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:32930714G>A ENST00000544455.1 + 15 7812 c.7585G>A c.(7585-7587)Ggc>Agc p.G2529S BRCA2_ENST00000380152.3_Missense_Mutation_p.G2529S NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2529 Interaction with FANCD2. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGCAGTAGGAGGCCAAGTTCC 0.418000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 34 71 0 0 0.002836 0 0 ZNF582 147948 broad.mit.edu 37 19 56896388 56896388 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:56896388C>T ENST00000301310.4 - 5 556 c.398G>A c.(397-399)gGa>gAa p.G133E ZNF582_ENST00000586929.1_Missense_Mutation_p.G133E NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G133E(1) 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) GTCTGGATTTCCCTGTTGTCT 0.403000 42 76 0 0 0.008740 0 0 EHD1 10938 broad.mit.edu 37 11 64622204 64622204 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:64622204G>A ENST00000320631.3 - 5 1460 c.1206C>T c.(1204-1206)tcC>tcT p.S402S EHD1_ENST00000359393.2_Silent_p.S402S|EHD1_ENST00000488711.1_5'UTR NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 402 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 AAGGCATCAGGGACTCCTCCT 0.672000 16 136 0 0 0.004007 0 0 DNAH8 1769 broad.mit.edu 37 6 38843583 38843583 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:38843583G>A ENST00000359357.3 + 51 7440 c.7186G>A c.(7186-7188)Gag>Aag p.E2396K DNAH8_ENST00000449981.2_Missense_Mutation_p.E2613K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2360K 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 AACCATGTATGAGTTTTATGT 0.343000 13 18 0 0 0.002450 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95483152 95483152 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:95483152C>T ENST00000432432.2 - 0 1429 NR_040113.1 ATAAAGAGTTCATCCTGTGAT 0.264000 3 6 0 0 0.004672 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66989064 66989064 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:66989064G>A ENST00000276570.5 + 4 576 c.289G>A c.(289-291)Gaa>Aaa p.E97K DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 97 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) GTTTGGAGACGAAAACGTTAA 0.448000 33 81 0 0 0.003271 0 0 GALNT14 79623 broad.mit.edu 37 2 31167752 31167752 + Missense_Mutation SNP G G A rs138204092 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:31167752G>A ENST00000349752.5 - 8 1438 c.799C>T c.(799-801)Cgg>Tgg p.R267W GALNT14_ENST00000324589.5_Missense_Mutation_p.R272W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R234W|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.R232W|GALNT14_ENST00000406653.1_Missense_Mutation_p.R247W NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 267 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) TCCAGGCGCCGAGCCTTCTGC 0.592000 18 44 0 0 0.006122 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136594241 136594241 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:136594241C>T ENST00000355849.5 + 6 1142 c.732C>T c.(730-732)ccC>ccT p.P244P KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 244 Interaction with SIAH1. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TTCTCACTCCCAGAGCAAGAG 0.587000 11 76 0 0 0.008291 0 0 ERCC6 2074 broad.mit.edu 37 10 50690779 50690779 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:50690779G>A ENST00000355832.5 - 10 2201 c.2123C>T c.(2122-2124)tCc>tTc p.S708F ERCC6_ENST00000542458.1_Missense_Mutation_p.S78F NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 708 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 GATGGGGACGGAGAACTGCTC 0.448000 Direct reversal of damage;Nucleotide excision repair (NER) 30 35 0 0 0.002836 0 0 EFNB3 1949 broad.mit.edu 37 17 7611369 7611369 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:7611369C>T ENST00000226091.2 + 2 613 c.216C>T c.(214-216)tcC>tcT p.S72S NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 72 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) GCCCTCACTCCTCTCCTAATT 0.622000 21 40 0 0 0.008871 0 0 RBP3 5949 broad.mit.edu 37 10 48390014 48390014 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:48390014G>A ENST00000224600.4 - 1 977 c.864C>T c.(862-864)ccC>ccT p.P288P NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 288 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity 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) CTCCACCAAGGGGCCCCAGGG 0.692000 4 25 0 0 0.001168 0 0 SORL1 6653 broad.mit.edu 37 11 121425922 121425922 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:121425922G>A ENST00000260197.7 + 18 2595 c.2466G>A c.(2464-2466)ggG>ggA p.G822G NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 822 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) GAAGCACAGGGCAAGAGGTGA 0.473000 50 41 0 0 0.003610 0 0 SCN7A 6332 broad.mit.edu 37 2 167328850 167328850 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:167328850G>A ENST00000409855.1 - 5 675 c.549C>T c.(547-549)ctC>ctT p.L183L NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 183 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CGCTGAAATCGAGCCAGTTCC 0.353000 6 10 0 0 0.001984 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541451 40541451 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:40541451G>A ENST00000434248.1 - 5 1380 c.1315C>T c.(1315-1317)Cat>Tat p.H439Y ZNF780B_ENST00000221355.6_Missense_Mutation_p.H291Y NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCATTGGAATGAATTTTTTGA 0.378000 54 86 0 0 0.003610 0 0 GABRB1 2560 broad.mit.edu 37 4 47427844 47427844 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:47427844G>A ENST00000295454.3 + 9 1526 c.1234G>A c.(1234-1236)Gag>Aag p.E412K GABRB1_ENST00000538619.1_Missense_Mutation_p.E342K NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 412 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAGCAGCCGCGAGGCCTACGG 0.662000 11 43 0 0 0.008291 0 0 WDTC1 23038 broad.mit.edu 37 1 27631591 27631591 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:27631591C>T ENST00000319394.3 + 15 2278 c.1743C>T c.(1741-1743)tcC>tcT p.S581S WDTC1_ENST00000361771.3_Silent_p.S580S NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 581 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GGGATGAGTCCATTGTCAACT 0.587000 16 28 0 0 0.006122 0 0 SEC61A2 55176 broad.mit.edu 37 10 12191670 12191670 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:12191670C>T ENST00000379033.3 + 4 378 c.231C>T c.(229-231)atC>atT p.I77I SEC61A2_ENST00000304267.8_Silent_p.I99I|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Silent_p.I99I|SEC61A2_ENST00000379020.4_Silent_p.I99I|SEC61A2_ENST00000298428.9_Silent_p.I99I|SEC61A2_ENST00000379051.1_Silent_p.I99I NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 99 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) GAGCCAAAATCATTGAAGTTG 0.403000 80 308 0 0 0.003610 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596460 41596460 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:41596460C>T ENST00000330436.3 + 4 645 c.645C>T c.(643-645)tcC>tcT p.S215S NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 215 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) CGGCAACCTCCACGGGGCAGG 0.597000 32 56 0 0 0.001786 0 0 C2orf16 84226 broad.mit.edu 37 2 27801023 27801023 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:27801023G>A ENST00000408964.2 + 1 1635 c.1584G>A c.(1582-1584)acG>acA p.T528T NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 528 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AGTCTGTGACGATACCAAGGC 0.433000 11 55 0 0 0.008291 0 0 EPX 8288 broad.mit.edu 37 17 56272328 56272328 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:56272328C>T ENST00000225371.5 + 6 708 c.598C>T c.(598-600)Cgg>Tgg p.R200W NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 200 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CCACCAGGTCCGGGCTGTCTC 0.597000 6 16 0 0 0.001168 0 0 PKD1L2 114780 broad.mit.edu 37 16 81142880 81142880 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:81142880C>T ENST00000534142.1 - 0 1392 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_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 AACGGAGTTTCCAACCAAATA 0.517000 4 10 0 0 0.000248 0 0 MTR 4548 broad.mit.edu 37 1 236973878 236973878 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:236973878C>T ENST00000366577.5 + 5 879 c.485C>T c.(484-486)cCg>cTg p.P162L MTR_ENST00000418145.2_Missense_Mutation_p.P218L|MTR_ENST00000535889.1_Missense_Mutation_p.P162L NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 162 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GTGGAAAGGCCGGATTATAGG 0.423000 43 101 0 0 0.002222 0 0 ASPM 259266 broad.mit.edu 37 1 197098368 197098368 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:197098368G>A ENST00000367409.4 - 9 2965 c.2709C>T c.(2707-2709)tcC>tcT p.S903S ASPM_ENST00000294732.7_Silent_p.S903S|ASPM_ENST00000367408.1_Silent_p.S153S NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 903 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 CAATGAGTCTGGAAATTTTAG 0.308000 30 26 0 0 0.008361 0 0 TMEM56 148534 broad.mit.edu 37 1 95657311 95657311 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:95657311G>A ENST00000370203.4 + 7 970 c.679G>A c.(679-681)Gat>Aat p.D227N RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 227 TLC. integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TGTTGTTTTGGATGTGATGAA 0.383000 21 136 0 0 0.001523 0 0 OR5M3 219482 broad.mit.edu 37 11 56237350 56237350 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56237350G>A ENST00000312240.2 - 1 664 c.624C>T c.(622-624)tcC>tcT p.S208S NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TTACAGTCAGGGAATATGTGA 0.443000 41 46 0 0 0.003610 0 0 OR52N2 390077 broad.mit.edu 37 11 5841972 5841972 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5841972C>T ENST00000317037.2 + 1 429 c.407C>T c.(406-408)aCc>aTc p.T136I TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCTATGCCACCATCCTTACC 0.547000 32 47 0 0 0.003755 0 0 KCTD7 154881 broad.mit.edu 37 7 66270291 66270291 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:66270291C>T ENST00000380828.2 + 10 1259 c.1105C>T c.(1105-1107)Cca>Tca p.P369S RABGEF1_ENST00000284957.5_Missense_Mutation_p.P329S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P329S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P343S|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.P329S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P342S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P329S Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GGGCAACCCCCCACGCCTTCA 0.498000 30 53 0 0 0.002836 0 0 CAT 847 broad.mit.edu 37 11 34470873 34470873 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:34470873G>A ENST00000241052.4 + 2 290 c.201G>A c.(199-201)gaG>gaA p.E67E NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 67 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TTGACCGAGAGAGAATTCCTG 0.433000 29 63 0 0 0.002445 0 0 PXDNL 137902 broad.mit.edu 37 8 52359682 52359682 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:52359682G>A ENST00000356297.4 - 12 1507 c.1407C>T c.(1405-1407)tcC>tcT p.S469S PXDNL_ENST00000543296.1_Silent_p.S469S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 469 Ig-like C2-type 3. 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) AAGTGCCAGAGGAGAGAACTG 0.512000 53 89 0 0 0.003610 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409859 56409859 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56409859G>A ENST00000544374.1 - 1 88 c.60C>T c.(58-60)ctC>ctT p.L20L OR5AP2_ENST00000302981.1_Silent_p.L19L Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 GTCCTAAGAGGAGAAATTCTG 0.398000 9 42 0 0 0.000978 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838383 16838383 + Silent SNP C C T rs142792914 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:16838383C>T ENST00000355661.3 - 11 1840 c.1830G>A c.(1828-1830)ggG>ggA p.G610G PLEKHA7_ENST00000531066.1_Silent_p.G610G|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.G610G Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 610 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TTGGAGAATCCCCCAGCGAGA 0.657000 7 38 0 0 0.001984 0 0 ALMS1 7840 broad.mit.edu 37 2 73799595 73799595 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:73799595C>T ENST00000264448.6 + 16 10699 c.10588C>T c.(10588-10590)Cct>Tct p.P3530S ALMS1_ENST00000409009.1_Missense_Mutation_p.P3488S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3530 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 TCTTCCTCTTCCTTATCAAAA 0.368000 11 24 0 0 0.000978 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229699 87229699 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:87229699C>T ENST00000297524.3 - 3 1282 c.1179_splice c.e3+1 p.K393_splice SLC7A13_ENST00000419776.2_Splice_Site_p.K384_splice NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 393 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CCAATTTTACCTTATAAGGTA 0.289000 16 26 0 0 0.006122 0 0 SFTA3 253970 broad.mit.edu 37 14 36946289 36946289 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:36946289C>T ENST00000518529.2 - 3 823 c.148G>A c.(148-150)Gaa>Aaa p.E50K RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_Intron NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 50 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 ATCCGCTTTTCCCTCTCCCTC 0.522000 31 48 0 0 0.008361 0 0 TP53BP1 7158 broad.mit.edu 37 15 43705503 43705503 + Missense_Mutation SNP G G A rs76780868 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:43705503G>A ENST00000263801.3 - 24 5356 c.5104C>T c.(5104-5106)Ccc>Tcc p.P1702S TP53BP1_ENST00000382044.4_Missense_Mutation_p.P1707S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P1657S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P1705S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1702 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) CTCTCACAGGGGCTCACAAAC 0.537000 Other conserved DNA damage response genes 10 17 0 0 0.006214 0 0 CEP250 11190 broad.mit.edu 37 20 34091199 34091199 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:34091199C>T ENST00000397527.1 + 30 5722 c.5002C>T c.(5002-5004)Cag>Tag p.Q1668* CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q1612* NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1668 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGAGAGGATTCAGGTTCTCGA 0.572000 72 114 0 0 0.003610 0 0 OR10K2 391107 broad.mit.edu 37 1 158389972 158389972 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158389972G>A ENST00000314902.2 - 1 684 c.685C>T c.(685-687)Cct>Tct p.P229S NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGTGTGGAAGGAAACTGAAGT 0.448000 25 59 0 0 0.004656 0 0 SERPINB10 5273 broad.mit.edu 37 18 61587039 61587039 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:61587039G>A ENST00000238508.3 + 5 449 c.390G>A c.(388-390)atG>atA p.M130I NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TAGAAGACATGAAAACATATT 0.338000 9 51 0 0 0.006214 0 0 PALB2 79728 broad.mit.edu 37 16 23640972 23640972 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:23640972A>G ENST00000261584.4 - 5 2655 c.2503T>C c.(2503-2505)Tcc>Ccc p.S835P NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 835 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TGTTCGACGGAATGTTTATGC 0.448000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 14 65 0 0 0.004007 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785695 1785695 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:1785695C>T ENST00000539485.1 - 26 3429 c.3196G>A c.(3196-3198)Gag>Aag p.E1066K ATP8B3_ENST00000525591.1_Missense_Mutation_p.E1019K|ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1056K O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1056 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) AGGCTCTGCTCTGCGCTCACG 0.622000 9 12 0 0 0.008291 0 0 OR2T8 343172 broad.mit.edu 37 1 248084415 248084415 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248084415C>T ENST00000319968.4 + 1 96 c.96C>T c.(94-96)atC>atT p.I32I NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 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;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTCTGAGTATCGTTTTGACCT 0.483000 24 55 0 0 0.004656 0 0 TAF3 83860 broad.mit.edu 37 10 7866325 7866325 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:7866325C>T ENST00000344293.5 + 2 417 c.211C>T c.(211-213)Cag>Tag p.Q71* NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 71 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding p.Q71*(1) NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 TGAAGCTTTCCAGCTGATGGG 0.393000 22 77 0 0 0.003330 0 0 GDF10 2662 broad.mit.edu 37 10 48429138 48429138 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:48429138C>T ENST00000224605.2 - 2 1013 c.748G>A c.(748-750)Gat>Aat p.D250N NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 250 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity p.D250N(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 ATGGCCAGATCGTTGGCATAG 0.672000 8 14 0 0 0.004482 0 0 CARD11 84433 broad.mit.edu 37 7 2979559 2979559 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:2979559C>T ENST00000396946.4 - 6 1091 c.688G>A c.(688-690)Gat>Aat p.D230N NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 230 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.D223N(3) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTTAGCTGATCGATCTGAAAT 0.493000 Mis DLBCL 30 54 0 0 0.007291 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599060 136599060 + Missense_Mutation SNP G G A rs146790565 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:136599060G>A ENST00000531224.1 - 4 1211 c.959C>T c.(958-960)tCg>tTg p.S320L BCLAF1_ENST00000527759.1_Missense_Mutation_p.S318L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S318L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S320L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S320L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S318L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 320 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) AGGATAAAACGAGGAACGGCC 0.398000 26 92 0 0 0.001786 0 0 OR5P3 120066 broad.mit.edu 37 11 7846917 7846917 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7846917G>A ENST00000328375.1 - 1 602 c.603C>T c.(601-603)atC>atT p.I201I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATCCAGAAGAGATAGCTGGAA 0.423000 21 36 0 0 0.001523 0 0 AP1B1 162 broad.mit.edu 37 22 29745234 29745234 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:29745234G>A ENST00000357586.2 - 11 1596 c.1410C>T c.(1408-1410)ctC>ctT p.L470L AP1B1_ENST00000405198.1_Silent_p.L470L|AP1B1_ENST00000356015.2_Silent_p.L470L|AP1B1_ENST00000415447.1_Silent_p.L470L|AP1B1_ENST00000317368.7_Silent_p.L470L|AP1B1_ENST00000402502.1_Silent_p.L470L|AP1B1_ENST00000432560.2_Silent_p.L470L NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 470 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGAAGCCCTCGAGGAAGCTCT 0.617000 30 60 0 0 0.002445 0 0 PRMT10 90826 broad.mit.edu 37 4 148575007 148575007 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:148575007A>G ENST00000322396.6 - 9 2283 c.2041T>C c.(2041-2043)Tcc>Ccc p.S681P TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.S568P NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 681 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 TTTTACCTGGATATTGCAGCT 0.318000 9 40 0 0 0.006214 0 0 TPR 7175 broad.mit.edu 37 1 186303579 186303579 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:186303579G>A ENST00000367478.3 - 36 5356 c.5060C>T c.(5059-5061)gCt>gTt p.A1687V NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1687 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) CTTATTTCCAGCCATAGCTGC 0.488000 T NTRK1 papillary thyroid 45 75 0 0 0.002852 0 0 KCTD16 57528 broad.mit.edu 37 5 143586587 143586587 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:143586587G>A ENST00000507359.2 + 2 1401 c.310G>A c.(310-312)Gga>Aga p.G104R KCTD16_ENST00000512467.1_Missense_Mutation_p.G104R NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 104 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TCCAGAAAAAGGAAGACTGAA 0.473000 11 38 0 0 0.001855 0 0 THSD4 79875 broad.mit.edu 37 15 72020956 72020956 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:72020956G>A ENST00000355327.3 + 9 1560 c.1426G>A c.(1426-1428)Gag>Aag p.E476K THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E476K|THSD4_ENST00000357769.4_Missense_Mutation_p.E116K Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 476 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 AGGAAAATACGAGGGCGGAGG 0.507000 30 149 0 0 0.006320 0 0 ABCA8 10351 broad.mit.edu 37 17 66878036 66878036 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:66878036G>A ENST00000269080.2 - 29 3931 c.3794C>T c.(3793-3795)gCc>gTc p.A1265V ABCA8_ENST00000586539.1_Missense_Mutation_p.A1305V|ABCA8_ENST00000430352.2_Missense_Mutation_p.A1305V NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1265 ABC transporter 2. 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) ATTTCTCGTGGCTATCTTATT 0.473000 46 59 0 0 0.002522 0 0 MUC16 94025 broad.mit.edu 37 19 9071673 9071673 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9071673G>A ENST00000397910.4 - 3 15976 c.15773C>T c.(15772-15774)tCc>tTc p.S5258F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5260 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 CTTAATAGAGGAGGTGAAGAC 0.502000 42 83 0 0 0.002522 0 0 HDAC3 8841 broad.mit.edu 37 5 141009672 141009672 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:141009672A>G ENST00000305264.3 - 4 381 c.302T>C c.(301-303)tTt>tCt p.F101S NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 101 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) GCAGAACTCAAAGAGCCCGGG 0.557000 45 52 0 0 0.003610 0 0 FSHR 2492 broad.mit.edu 37 2 49189899 49189899 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:49189899G>A ENST00000406846.2 - 10 2180 c.2061C>T c.(2059-2061)gtC>gtT p.V687V FSHR_ENST00000304421.4_Silent_p.V661V|FSHR_ENST00000541117.1_Silent_p.V423V|FSHR_ENST00000346173.3_Silent_p.V625V NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 687 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) GACTTAGAGGGACAAGTATGT 0.423000 Gonadal Dysgenesis, 46 XX 31 26 0 0 0.003271 0 0 ZNF90 7643 broad.mit.edu 37 19 20215134 20215134 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:20215134G>A ENST00000418063.2 + 2 202 c.90G>A c.(88-90)agG>agA p.R30R ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 30 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ATTTATATAGGGATGTGATGT 0.393000 34 62 0 0 0.003271 0 0 C8A 731 broad.mit.edu 37 1 57347274 57347274 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:57347274G>A ENST00000361249.3 + 5 717 c.621G>A c.(619-621)cgG>cgA p.R207R NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 207 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 AATACTTTCGGAAACCCTACA 0.498000 30 48 0 0 0.001786 0 0 FCRL6 343413 broad.mit.edu 37 1 159779293 159779293 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:159779293C>T ENST00000321935.6 + 6 813 c.727C>T c.(727-729)Ccg>Tcg p.P243S FCRL6_ENST00000339348.5_Missense_Mutation_p.P236S|FCRL6_ENST00000368106.3_Missense_Mutation_p.P236S|FCRL6_ENST00000392235.3_Missense_Mutation_p.P141S Q6DN72 FCRL6_HUMAN Fc receptor-like 6 236 Ig-like C2-type 3. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GGGCTCCCCTCCGATCCTGTA 0.587000 23 37 0 0 0.003330 0 0 DMBT1 1755 broad.mit.edu 37 10 124339268 124339268 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:124339268G>A ENST00000368909.3 + 10 960 c.854G>A c.(853-855)gGa>gAa p.G285E DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G285E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G285E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G285E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G285E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G285E NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 285 SRCR 2. 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 p.G285E(2) 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) TCAGCCCCAGGAAATGCCCAG 0.612000 57 180 0 0 0.003610 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220383832 220383832 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:220383832C>T ENST00000358951.2 - 7 627 c.e7-1 NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) GCACACCATTCTAGGAGGAAG 0.473000 45 68 0 0 0.002522 0 0 OR52I1 390037 broad.mit.edu 37 11 4615877 4615877 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:4615877T>A ENST00000450052.2 + 2 681 c.681T>A c.(679-681)agT>agA p.S227R OR52I1_ENST00000530443.2_Missense_Mutation_p.S203R Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCTCTACAGTCTGATTGGTT 0.493000 30 184 0 0 0.004878 0 0 HMGB4 127540 broad.mit.edu 37 1 34330330 34330330 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:34330330G>A ENST00000522796.1 + 4 2443 c.538G>A c.(538-540)Ggg>Agg p.G180R HMGB4_ENST00000519684.1_Missense_Mutation_p.G180R|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron B2R4X7 B2R4X7_HUMAN high mobility group box 4 180 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCGGTGCAGAGGGAAAAGAGT 0.458000 11 31 0 0 0.002450 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720129 160720129 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:160720129C>T ENST00000368043.3 + 4 722 c.685C>T c.(685-687)Ctg>Ttg p.L229L SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L122L|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L229L NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 229 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CATGGTCCTCCTGTGTCTCCT 0.517000 50 180 0 0 0.003610 0 0 SAP130 79595 broad.mit.edu 37 2 128767935 128767935 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:128767935G>A ENST00000357702.5 - 7 986 c.855C>T c.(853-855)atC>atT p.I285I SAP130_ENST00000259235.3_Silent_p.I285I|SAP130_ENST00000259234.6_Silent_p.I259I NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 285 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CAGCAGGAGGGATGGCATTGG 0.448000 4 36 0 0 0.000602 0 0 CCDC135 84229 broad.mit.edu 37 16 57761237 57761237 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:57761237G>A ENST00000360716.3 + 16 2333 c.2112G>A c.(2110-2112)gaG>gaA p.E704E CCDC135_ENST00000336825.8_Silent_p.E639E|CCDC135_ENST00000394337.4_Silent_p.E704E Q8IY82 CC135_HUMAN coiled-coil domain containing 135 704 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 AGCTTCGAGAGGAAGAGGAGG 0.547000 39 72 0 0 0.002222 0 0 HELZ2 85441 broad.mit.edu 37 20 62199807 62199807 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:62199807G>A ENST00000467148.1 - 5 1703 c.1634C>T c.(1633-1635)cCc>cTc p.P545L RP4-697K14.12_ENST00000454223.1_RNA NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGTGCCAAAGGGGCCATAGAT 0.652000 4 15 0 0 0.000248 0 0 SLC17A2 10246 broad.mit.edu 37 6 25914867 25914867 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:25914867C>T ENST00000377850.3 - 11 1767 c.1243G>A c.(1243-1245)Gga>Aga p.G415R SLC17A2_ENST00000360488.3_Silent_p.G365G|SLC17A2_ENST00000265425.3_Missense_Mutation_p.G415R O00624 NPT3_HUMAN solute carrier family 17, member 2 415 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 AGCCCAAATCCCCTTGAGATT 0.433000 24 37 0 0 0.006320 0 0 UPK3A 7380 broad.mit.edu 37 22 45689150 45689150 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:45689150C>T ENST00000216211.4 + 5 692 c.660C>T c.(658-660)ttC>ttT p.F220F UPK3A_ENST00000396082.2_Silent_p.F99F NM_006953.3 NP_008884.1 O75631 UPK3A_HUMAN uroplakin 3A 220 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCCTGCCCTTCTTTCTACTTG 0.607000 28 55 0 0 0.008361 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204379328 204379328 + Silent SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:204379328A>T ENST00000367188.4 - 1 1591 c.1212T>A c.(1210-1212)gtT>gtA p.V404V RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 404 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) ATGAGTAATCAACTACACTTA 0.468000 24 41 0 0 0.004656 0 0 CSMD2 114784 broad.mit.edu 37 1 34174812 34174812 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:34174812G>A ENST00000373381.4 - 22 3629 c.3453C>T c.(3451-3453)tcC>tcT p.S1151S CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.S24S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1111 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) GAAAGTTGGGGGACAGCAAAG 0.478000 21 29 0 0 0.001523 0 0 RIPPLY3 53820 broad.mit.edu 37 21 38390361 38390361 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:38390361C>T ENST00000329553.2 + 4 637 c.427C>T c.(427-429)Cgg>Tgg p.R143W RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 ripply transcriptional repressor 3 GGTGGGAGGTCGGCAGGAAAA 0.627000 19 7 0 0 0.008871 0 0 PDE8B 8622 broad.mit.edu 37 5 76709015 76709015 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:76709015C>T ENST00000264917.5 + 17 1837 c.1792C>T c.(1792-1794)Cgg>Tgg p.R598W PDE8B_ENST00000342343.4_Missense_Mutation_p.R578W|PDE8B_ENST00000333194.4_Missense_Mutation_p.R543W|PDE8B_ENST00000505283.1_Missense_Mutation_p.R63W|PDE8B_ENST00000346042.3_Missense_Mutation_p.R501W|PDE8B_ENST00000340978.3_Missense_Mutation_p.R551W NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 598 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) AACCACTCTTCGGGCCTGGTT 0.483000 226 393 0 0 0.003610 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18639275 18639275 + Missense_Mutation SNP G G A rs143136084 by1000genomes TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:18639275G>A ENST00000380548.4 + 7 1039 c.700G>A c.(700-702)Ggg>Agg p.G234R ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G234R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G234R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G234R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 234 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) AACCCTCCAGGGGACTAAAGG 0.428000 10 15 0 0 0.008291 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764324 77764324 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:77764324C>T ENST00000521891.2 + 10 5615 c.5167C>T c.(5167-5169)Cct>Tct p.P1723S ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1678 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1723T(1) 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) GCCTCATTTTCCTATGACCCC 0.473000 HNSCC(33;0.089) 23 59 0 0 0.002780 0 0 MUC17 140453 broad.mit.edu 37 7 100685708 100685708 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:100685708C>T ENST00000306151.4 + 3 11075 c.11011C>T c.(11011-11013)Caa>Taa p.Q3671* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3671 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) CACTTCTACCCAAGTCAGTTC 0.507000 58 92 0 0 0.003610 0 0 SLC7A2 6542 broad.mit.edu 37 8 17400855 17400855 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:17400855C>T ENST00000470360.1 + 4 244 c.127C>T c.(127-129)Cct>Tct p.P43S SLC7A2_ENST00000398090.3_Missense_Mutation_p.P43S|SLC7A2_ENST00000004531.10_Missense_Mutation_p.P43S|SLC7A2_ENST00000494857.1_Missense_Mutation_p.P3S|SLC7A2_ENST00000522656.1_Missense_Mutation_p.P3S P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 3 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CAGAATGATTCCTTGCAGAGC 0.522000 27 34 0 0 0.005443 0 0 FAM227B 196951 broad.mit.edu 37 15 49882087 49882087 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:49882087G>A ENST00000299338.6 - 4 526 c.223C>T c.(223-225)Cct>Tct p.P75S FAM227B_ENST00000561064.1_Missense_Mutation_p.P75S|FAM227B_ENST00000560246.1_Missense_Mutation_p.P75S|FAM227B_ENST00000558594.1_Missense_Mutation_p.P75S|FAM227B_ENST00000558862.1_5'UTR NM_152647.2 NP_689860.2 family with sequence similarity 227, member B AATATTCGAGGAACATTTTCC 0.294000 16 62 0 0 0.004007 0 0 PMEL 6490 broad.mit.edu 37 12 56352320 56352320 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:56352320C>T ENST00000548747.1 - 4 1068 c.406G>A c.(406-408)Gga>Aga p.G136R PMEL_ENST00000550464.1_Missense_Mutation_p.G50R|PMEL_ENST00000550447.1_Missense_Mutation_p.G99R|PMEL_ENST00000539511.1_Missense_Mutation_p.G50R|PMEL_ENST00000360714.4_Missense_Mutation_p.G136R|PMEL_ENST00000536427.1_Missense_Mutation_p.G136R|PMEL_ENST00000552882.1_Missense_Mutation_p.G136R|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000449260.2_Missense_Mutation_p.G136R|PMEL_ENST00000548493.1_Missense_Mutation_p.G136R P40967 PMEL_HUMAN premelanosome protein 136 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGGCAAGGTCCACCATCAGGG 0.522000 27 32 0 0 0.004656 0 0 CFHR2 3080 broad.mit.edu 37 1 196918592 196918592 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:196918592C>T ENST00000367415.4 + 2 180 c.66C>T c.(64-66)ttC>ttT p.F22F CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.F22F NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 22 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 CAGCAATGTTCTGTGATTTTC 0.289000 14 17 0 0 0.002450 0 0 RNASEL 6041 broad.mit.edu 37 1 182555078 182555078 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:182555078G>A ENST00000367559.3 - 2 1117 c.864C>T c.(862-864)atC>atT p.I288I RNASEL_ENST00000539397.1_Silent_p.I288I|RNASEL_ENST00000444138.1_Silent_p.I288I NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 288 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GCAACTCGGCGATTTTCTTCA 0.473000 52 84 0 0 0.003610 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280083 22280083 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:22280083C>T ENST00000390431.3 + 0 272 GAAACCACTTCTTTCCACTTG 0.498000 19 30 0 0 0.007413 0 0 AGBL1 123624 broad.mit.edu 37 15 86809611 86809611 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:86809611G>A ENST00000441037.2 + 11 1631 c.1536G>A c.(1534-1536)agG>agA p.R512R AGBL1_ENST00000389298.3_Silent_p.R243R|AGBL1_ENST00000421325.2_Silent_p.R512R NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 512 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 TCAGGATCAGGATATTTGAGG 0.438000 5 10 0 0 0.001984 0 0 CDK11A 728642 broad.mit.edu 37 1 1647848 1647848 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:1647848G>A ENST00000356200.3 - 4 557 c.323C>T c.(322-324)gCt>gTt p.A108V CDK11A_ENST00000358779.5_Missense_Mutation_p.A132V|CDK11A_ENST00000378635.3_Missense_Mutation_p.A132V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.A132V|CDK11A_ENST00000378638.2_Missense_Mutation_p.A108V|CDK11A_ENST00000404249.3_Missense_Mutation_p.A142V|CDK11A_ENST00000357760.2_Missense_Mutation_p.A132V cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 TTCCCGGCGAGCTTTATCCTG 0.468000 35 81 0 0 0.004289 0 0 SPEG 10290 broad.mit.edu 37 2 220334094 220334094 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:220334094G>A ENST00000312358.7 + 13 3840 c.3708G>A c.(3706-3708)atG>atA p.M1236I SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1236 Ig-like 6. 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) ACCGGCGCATGACACAGTGTA 0.642000 5 16 0 0 0.000602 0 0 FAM135B 51059 broad.mit.edu 37 8 139164194 139164194 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:139164194G>A ENST00000395297.1 - 13 2694 c.2524C>T c.(2524-2526)Ccc>Tcc p.P842S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 842 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) ATGTATCCGGGGCCCTGCTGG 0.517000 HNSCC(54;0.14) 32 77 0 0 0.002445 0 0 KCNH1 3756 broad.mit.edu 37 1 211192252 211192252 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:211192252G>A ENST00000367007.4 - 6 1074 c.905C>T c.(904-906)tCc>tTc p.S302F KCNH1_ENST00000271751.4_Missense_Mutation_p.S302F NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 302 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) TGGCAAACAGGACAGAAGGTC 0.458000 52 88 0 0 0.003610 0 0 HEATR2 54919 broad.mit.edu 37 7 819751 819751 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:819751C>G ENST00000297440.6 + 12 2421 c.2401C>G c.(2401-2403)Cca>Gca p.P801A HEATR2_ENST00000313147.5_Missense_Mutation_p.P801A|HEATR2_ENST00000403952.3_Missense_Mutation_p.P226A NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 801 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) CCTTGACGATCCAGAGAGGGC 0.567000 19 26 0 0 0.001882 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724380 140724380 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140724380G>A ENST00000253812.6 + 1 780 c.780G>A c.(778-780)cgG>cgA p.R260R 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) TGGGTACCCGGCTGCTCACGG 0.483000 20 31 0 0 0.003954 0 0 EP400 57634 broad.mit.edu 37 12 132529467 132529467 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:132529467G>A ENST00000333577.4 + 38 6970 c.6861G>A c.(6859-6861)aaG>aaA p.K2287K EP400_ENST00000389561.2_Silent_p.K2251K|EP400_ENST00000389562.2_Silent_p.K2250K|EP400_ENST00000330386.6_Silent_p.K2170K|EP400_ENST00000332482.4_Silent_p.K2214K Q96L91 EP400_HUMAN E1A binding protein p400 2287 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) ACGTGAGGAAGGAGCGGAAGC 0.612000 30 44 0 0 0.001786 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261121 62261121 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:62261121G>T ENST00000416284.3 - 2 1670 c.86C>A c.(85-87)tCc>tAc p.S29Y FAM19A2_ENST00000551619.1_Missense_Mutation_p.S29Y|FAM19A2_ENST00000551449.1_Missense_Mutation_p.S29Y NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 29 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) GTTTGCACTGGATACAACTTT 0.333000 28 52 4.31634e-10 4.8018e-10 0.002445 1 0 MYO3A 53904 broad.mit.edu 37 10 26500877 26500877 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:26500877C>T ENST00000543632.1 + 17 1942 c.1882C>T c.(1882-1884)Cgt>Tgt p.R628C MYO3A_ENST00000265944.5_Silent_p.L1612L Q8NEV4 MYO3A_HUMAN myosin IIIA 0 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GCCGGCGCCTCGTCCAGCAGT 0.692000 7 17 0 0 0.003080 0 0 DDX60 55601 broad.mit.edu 37 4 169212958 169212958 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:169212958C>T ENST00000393743.3 - 8 1273 c.982G>A c.(982-984)Gct>Act p.A328T NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 328 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) CTAGCACAAGCTCTTTGAGAA 0.388000 21 36 0 0 0.002299 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150322137 150322137 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:150322137C>T ENST00000520773.1 - 0 1347 GGCTATAGATCTCCAGCATCA 0.522000 10 32 0 0 0.008291 0 0 AIM1L 55057 broad.mit.edu 37 1 26655269 26655269 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:26655269C>T ENST00000527815.1 - 15 1837 c.1788G>A c.(1786-1788)gaG>gaA p.E596E AIM1L_ENST00000308182.5_Silent_p.E425E NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 425 Ricin B-type lectin. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TGTTGAAGCCCTCGGCTTGCA 0.602000 35 63 0 0 0.005524 0 0 BACE2 25825 broad.mit.edu 37 21 42540503 42540503 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:42540503G>A ENST00000330333.6 + 1 775 c.e1+1 BACE2_ENST00000328735.6_Splice_Site|BACE2_ENST00000347667.4_Splice_Site NM_012105.3 NP_036237.2 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) CCCGCAGAAGGTAGGGACCCC 0.692000 6 5 0 0 0.003080 0 0 PTCH1 5727 broad.mit.edu 37 9 98218603 98218603 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:98218603G>A ENST00000430669.2 - 19 3648 c.3063C>T c.(3061-3063)atC>atT p.I1021I PTCH1_ENST00000418258.1_Silent_p.I936I|PTCH1_ENST00000331920.6_Silent_p.I1087I|PTCH1_ENST00000375274.2_Silent_p.I1086I|PTCH1_ENST00000437951.1_Silent_p.I1021I|PTCH1_ENST00000421141.1_Silent_p.I936I|PTCH1_ENST00000429896.2_Silent_p.I936I Q13635 PTC1_HUMAN patched 1 1087 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.V1057_L1102del(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CAACAGAAGCGATCAGGATGA 0.522000 17 21 0 0 0.007413 0 0 KHDC1 80759 broad.mit.edu 37 6 73952230 73952230 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:73952230C>T ENST00000423730.3 - 2 446 c.11G>A c.(10-12)gGa>gAa p.G4E KHDC1_ENST00000257765.5_Missense_Mutation_p.G4E|KHDC1_ENST00000370384.3_Missense_Mutation_p.G77E AGCACTCGTTCCCATGTCCAT 0.527000 21 34 0 0 0.002299 0 0 CDKAL1 54901 broad.mit.edu 37 6 20758841 20758841 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:20758841C>T ENST00000274695.4 + 7 651 c.484C>T c.(484-486)Cgt>Tgt p.R162C CDKAL1_ENST00000378624.4_Missense_Mutation_p.R92C|CDKAL1_ENST00000378610.1_Missense_Mutation_p.R162C|RP3-348I23.2_ENST00000421167.1_RNA NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 162 MTTase N-terminal. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity p.R162C(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GCAGATAGATCGTGTGGTAGA 0.328000 73 314 0 0 0.003610 0 0 DNAH11 8701 broad.mit.edu 37 7 21781645 21781645 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:21781645C>T ENST00000328843.6 + 50 8067 c.8036C>T c.(8035-8037)gCt>gTt p.A2679V DNAH11_ENST00000409508.3_Missense_Mutation_p.A2672V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2679 AAA 3 (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 CAAGCATTTGCTCCATCAATT 0.408000 Kartagener syndrome 50 71 0 0 0.003610 0 0 MYCT1 80177 broad.mit.edu 37 6 153042887 153042887 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:153042887C>T ENST00000367245.5 + 2 215 c.207C>T c.(205-207)atC>atT p.I69I MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 69 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) AGGACCTTATCATGTCCTTCA 0.378000 30 64 0 0 0.002445 0 0 ZNFX1 57169 broad.mit.edu 37 20 47865894 47865894 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:47865894G>A ENST00000396105.1 - 14 3913 c.3667C>T c.(3667-3669)Cga>Tga p.R1223* ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.R1223* NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1223 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTCTTGGCTCGGGACAAGGCC 0.507000 44 65 0 0 0.003610 0 0 ZNF71 58491 broad.mit.edu 37 19 57133999 57133999 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57133999C>T ENST00000328070.6 + 3 1578 c.1344C>T c.(1342-1344)atC>atT p.I448I NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 448 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) AGTCCTTCATCAAGAACTCCT 0.637000 17 25 0 0 0.004990 0 0 PPFIA2 8499 broad.mit.edu 37 12 81734917 81734917 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:81734917G>A ENST00000550584.2 - 19 2628 c.2333C>T c.(2332-2334)aCc>aTc p.T778I PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T778I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T778I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T704I|PPFIA2_ENST00000541570.2_Missense_Mutation_p.T345I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T679I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T760I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T778I|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T625I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T760I NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 704 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 GGCTCTAGGGGTAGGAGGAGG 0.448000 36 38 0 0 0.002836 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778202 56778202 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:56778202C>T ENST00000423391.1 - 1 434 c.333G>A c.(331-333)ctG>ctA p.L111L CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 111 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TCTTGGGGTTCAGGGGTGCCT 0.527000 12 31 0 0 0.000978 0 0 TRIM14 9830 broad.mit.edu 37 9 100849829 100849829 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:100849829G>A ENST00000341469.2 - 6 1261 c.1252C>T c.(1252-1254)Cgc>Tgc p.R418C TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.R199C|TRIM14_ENST00000342043.3_Missense_Mutation_p.R418C|TRIM14_ENST00000375098.3_Missense_Mutation_p.R418C NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 418 B30.2/SPRY. RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478). cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) AACGTGGCGCGGAAGGTATGC 0.716000 5 0 0 0 0.000602 0 0 FAT1 2195 broad.mit.edu 37 4 187534477 187534477 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:187534477G>A ENST00000441802.2 - 13 9458 c.9249C>T c.(9247-9249)acC>acT p.T3083T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3083 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GATCAAGGGGGGTTGACGTTT 0.448000 HNSCC(5;0.00058) 30 47 0 0 0.002096 0 0 WDR89 112840 broad.mit.edu 37 14 64065642 64065642 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:64065642C>T ENST00000394942.2 - 2 1107 c.1019G>A c.(1018-1020)gGa>gAa p.G340E CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.G340E NM_001008726.2|NM_001258272.1|NM_080666.3 NP_001008726.1|NP_001245201.1|NP_542397.1 Q96FK6 WDR89_HUMAN WD repeat domain 89 340 endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101) TGCATCTTCTCCTCCAGTCAA 0.448000 46 69 0 0 0.003214 0 0 LILRP2 79166 broad.mit.edu 37 19 55220652 55220652 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55220652C>T ENST00000413439.1 + 0 790 CAGCGAGCCCCTGGAGCTGGT 0.592000 9 16 0 0 0.000978 0 0 CMYA5 202333 broad.mit.edu 37 5 79032757 79032757 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:79032757C>T ENST00000446378.2 + 2 8200 c.8169C>T c.(8167-8169)ttC>ttT p.F2723F NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2723 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTAAGACTTTCCTGCCAGTGG 0.393000 15 16 0 0 0.003163 0 0 ANO2 57101 broad.mit.edu 37 12 5756906 5756906 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:5756906G>A ENST00000327087.8 - 16 1678 c.1607C>T c.(1606-1608)tCc>tTc p.S536F ANO2_ENST00000356134.5_Missense_Mutation_p.S537F|ANO2_ENST00000546188.1_Missense_Mutation_p.S537F|ANO2_ENST00000538154.1_5'UTR Q9NQ90 ANO2_HUMAN anoctamin 2 541 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GAATAAGATGGAGGCAAAGTT 0.458000 6 10 0 0 0.001168 0 0 AOC4P 90586 broad.mit.edu 37 17 41019658 41019658 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:41019658G>A ENST00000585538.1 + 0 497 NR_002773.1 CACCTGCCCGGGAGGCACTGG 0.657000 23 23 0 0 0.003330 0 0 TMEM67 91147 broad.mit.edu 37 8 94828614 94828614 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:94828614C>T ENST00000453321.3 + 28 2980 c.2922C>T c.(2920-2922)atC>atT p.I974I TMEM67_ENST00000409623.3_Silent_p.I893I NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 974 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TTAGATATATCCGTAATACAG 0.259000 28 43 0 0 0.008361 0 0 KIAA1328 57536 broad.mit.edu 37 18 34753042 34753042 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:34753042C>T ENST00000591619.1 + 9 2295 c.1509C>T c.(1507-1509)tcC>tcT p.S503S KIAA1328_ENST00000435985.2_Silent_p.S259S|KIAA1328_ENST00000280020.5_Silent_p.S507S|KIAA1328_ENST00000543923.1_Silent_p.S399S|KIAA1328_ENST00000586135.1_Silent_p.S259S Q86T90 K1328_HUMAN KIAA1328 507 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) ACACCACCTCCCGGTAAGCTT 0.388000 42 52 0 0 0.007835 0 0 LPXN 9404 broad.mit.edu 37 11 58338113 58338113 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:58338113G>A ENST00000528489.1 - 2 308 c.74C>T c.(73-75)cCc>cTc p.P25L LPXN_ENST00000528954.1_Silent_p.P34P|LPXN_ENST00000395074.2_Silent_p.P29P O60711 LPXN_HUMAN leupaxin 0 cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GCTGATCCAGGGGAAGAGGAG 0.443000 17 46 0 0 0.004990 0 0 GMDS 2762 broad.mit.edu 37 6 1961196 1961196 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:1961196G>A ENST00000380815.4 - 5 619 c.350C>T c.(349-351)tCc>tTc p.S117F GMDS_ENST00000530927.1_Missense_Mutation_p.S87F NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 117 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) GAGGTCAAAGGAAATCTGGAA 0.468000 10 15 0 0 0.006214 0 0 POLA2 23649 broad.mit.edu 37 11 65049962 65049962 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:65049962C>T ENST00000265465.3 + 10 1507 c.976C>T c.(976-978)Cca>Tca p.P326S POLA2_ENST00000541089.1_Missense_Mutation_p.P118S NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 326 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) TGTGCCACTTCCATTTTATCA 0.502000 26 65 0 0 0.008361 0 0 FAT3 120114 broad.mit.edu 37 11 92533956 92533956 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:92533956G>A ENST00000298047.6 + 9 7794 c.7777G>A c.(7777-7779)Gaa>Aaa p.E2593K FAT3_ENST00000409404.2_Missense_Mutation_p.E2593K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2443K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2593 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) TGTTGTGGATGAAAATGACAA 0.483000 TCGA Ovarian(4;0.039) 242 162 0 0 0.003610 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55285022 55285022 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55285022C>T ENST00000336077.6 + 3 348 c.308C>T c.(307-309)tCt>tTt p.S103F CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S103F|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 103 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TGCTACGGTTCTGTTACTCAC 0.527000 110 43 0 0 0.003610 0 0 PRDM9 56979 broad.mit.edu 37 5 23527010 23527010 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:23527010G>A ENST00000296682.3 + 11 1995 c.1813G>A c.(1813-1815)Gag>Aag p.E605K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 605 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 ACACACAGGGGAGAAGCCCTA 0.602000 HNSCC(3;0.000094) 38 66 0 0 0.003610 0 0 LUM 4060 broad.mit.edu 37 12 91502583 91502583 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:91502583C>T ENST00000266718.4 - 2 628 c.174G>A c.(172-174)ttG>ttA p.L58L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 58 LRRNT. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 GTACACTTTTCAATTTCAGCT 0.413000 11 42 0 0 0.001855 0 0 CAST 831 broad.mit.edu 37 5 96078387 96078387 + Missense_Mutation SNP C C T rs138552693 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:96078387C>T ENST00000395813.1 + 16 1313 c.1127C>T c.(1126-1128)gCt>gTt p.A376V CAST_ENST00000509903.1_Missense_Mutation_p.A258V|CAST_ENST00000508608.1_Missense_Mutation_p.A339V|CAST_ENST00000510756.1_Missense_Mutation_p.A354V|CAST_ENST00000511782.1_Missense_Mutation_p.A279V|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000511049.1_Missense_Mutation_p.A279V|CAST_ENST00000508830.1_Missense_Mutation_p.A376V|CAST_ENST00000395812.2_Missense_Mutation_p.A335V|CAST_ENST00000338252.3_Missense_Mutation_p.A280V|CAST_ENST00000504465.1_Missense_Mutation_p.A221V|CAST_ENST00000359176.4_Missense_Mutation_p.A357V|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000325674.7_Missense_Mutation_p.A341V|CAST_ENST00000309190.5_Missense_Mutation_p.A271V|CAST_ENST00000508579.1_Missense_Mutation_p.A8V|CAST_ENST00000341926.3_Missense_Mutation_p.A293V P20810 ICAL_HUMAN calpastatin 293 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) GCACTCGAGGCTCTGTCGGCT 0.453000 8 29 0 0 0.004482 0 0 FMO4 2329 broad.mit.edu 37 1 171310799 171310799 + Nonsense_Mutation SNP C C T rs145740321 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:171310799C>T ENST00000367749.3 + 10 1828 c.1498C>T c.(1498-1500)Cga>Tga p.R500* NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 500 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTTAAAAACTCGAATTGTCCC 0.478000 17 21 0 0 0.004007 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974679 21974679 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:21974679G>A ENST00000304494.5 - 1 418 c.148C>T c.(148-150)Cag>Tag p.Q50* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 50 Q -> R (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTACCCACCTGGATCGGCCTC 0.682000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 150 116 0 0 0.003610 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623790 21623790 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:21623790G>A ENST00000304418.3 - 1 432 c.395C>T c.(394-396)aCc>aTc p.T132I NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 132 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) GTTCACCAGGGTCTGGGGCAC 0.517000 27 62 0 0 0.006320 0 0 KANK4 163782 broad.mit.edu 37 1 62738893 62738893 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:62738893G>A ENST00000371153.4 - 3 2261 c.1883C>T c.(1882-1884)tCc>tTc p.S628F KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 628 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 CGGGGAGGAGGAGGAGGCCGG 0.577000 22 35 0 0 0.004656 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110465061 110465061 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:110465061C>T ENST00000378402.5 + 43 6726 c.6622C>T c.(6622-6624)Ctg>Ttg p.L2208L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2208 G8 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) GACCATTCTGCTGGATCAAAG 0.398000 HNSCC(38;0.096) 4 5 0 0 0.000248 0 0 ARMC4 55130 broad.mit.edu 37 10 28101521 28101521 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28101521C>T ENST00000305242.5 - 20 3147 c.3055G>A c.(3055-3057)Gat>Aat p.D1019N ARMC4_ENST00000545014.1_Silent_p.R584R|ARMC4_ENST00000537576.1_Intron NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 1019 binding p.D1019Y(1) 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 TCCTGGAGATCCTGGTCAGGG 0.418000 15 83 0 0 0.004990 0 0 CACNG2 10369 broad.mit.edu 37 22 36983539 36983539 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:36983539C>T ENST00000300105.6 - 2 1249 c.268G>A c.(268-270)Gaa>Aaa p.E90K NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 90 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 GTGTCAGCTTCGTAATCTGCA 0.473000 70 139 0 0 0.003610 0 0 ENPP6 133121 broad.mit.edu 37 4 185039019 185039019 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:185039019C>T ENST00000296741.2 - 4 709 c.568G>A c.(568-570)Gag>Aag p.E190K NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 190 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TCAATGCGCTCATGGTATATG 0.607000 27 42 0 0 0.003954 0 0 SLIT3 6586 broad.mit.edu 37 5 168093533 168093533 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:168093533G>A ENST00000519560.1 - 36 4917 c.4498C>T c.(4498-4500)Cag>Tag p.Q1500* CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Nonsense_Mutation_p.Q1507* NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1500 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) TCCGTGCACTGGAAGACGTAT 0.637000 12 16 0 0 0.001855 0 0 ENPP1 5167 broad.mit.edu 37 6 132204911 132204911 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:132204911C>T ENST00000360971.2 + 22 2328 c.2308C>T c.(2308-2310)Caa>Taa p.Q770* NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 770 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCAGAGTTTTCAAGGTAAATA 0.274000 43 78 0 0 0.002852 0 0 CLCNKB 1188 broad.mit.edu 37 1 16383395 16383395 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:16383395C>T ENST00000375679.4 + 20 2159 c.2048C>T c.(2047-2049)cCg>cTg p.P683L CLCNKB_ENST00000375667.3_Missense_Mutation_p.P513L NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTGACAAATCCGCCAGCCCCA 0.572000 9 23 0 0 0.001855 0 0 CELSR3 1951 broad.mit.edu 37 3 48698246 48698246 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:48698246G>A ENST00000544264.1 - 1 2102 c.1822C>T c.(1822-1824)Ctg>Ttg p.L608L CELSR3_ENST00000164024.4_Silent_p.L608L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 608 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCGAAGTCCAGAGGTGCCACC 0.607000 13 17 0 0 0.001855 0 0 FFAR4 338557 broad.mit.edu 37 10 95335855 95335855 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:95335855C>T ENST00000371483.4 + 2 631 c.575C>T c.(574-576)tCg>tTg p.S192L FFAR4_ENST00000371481.4_Missense_Mutation_p.S192L|FFAR4_ENST00000604414.1_Missense_Mutation_p.S192L NM_181745.3 NP_859529.2 free fatty acid receptor 4 TAGGAAATTTCGATTTGCACA 0.438000 36 47 0 0 0.006999 0 0 LEPREL1 55214 broad.mit.edu 37 3 189705355 189705355 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:189705355C>T ENST00000319332.5 - 5 1256 c.1059G>A c.(1057-1059)ctG>ctA p.L353L LEPREL1_ENST00000427335.2_Silent_p.L172L NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 353 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) TGCTATCATCCAGCAGACTCT 0.413000 14 43 0 0 0.003163 0 0 SLC26A6 65010 broad.mit.edu 37 3 48669454 48669454 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:48669454G>A ENST00000455886.2 - 5 552 c.505C>T c.(505-507)Cgg>Tgg p.R169W SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000395550.2_Silent_p.F203F|SLC26A6_ENST00000383733.3_Silent_p.F203F|SLC26A6_ENST00000420764.2_Silent_p.F203F|SLC26A6_ENST00000358747.6_Silent_p.F182F solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CCACGAAGCCGAAGTGGATCA 0.612000 18 95 0 0 0.008871 0 0 PKD2L1 9033 broad.mit.edu 37 10 102048186 102048186 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:102048186G>A ENST00000318222.3 - 16 2767 c.2385C>T c.(2383-2385)tcC>tcT p.S795S PKD2L1_ENST00000353274.3_3'UTR|PKD2L1_ENST00000338519.3_Silent_p.S720S NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 795 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) TCTCACCACGGGAGAGTCTCC 0.517000 51 73 0 0 0.003610 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211681 50211681 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:50211681C>T ENST00000002829.3 + 5 838 c.354C>T c.(352-354)ttC>ttT p.F118F SEMA3F_ENST00000413852.1_Silent_p.F50F|SEMA3F_ENST00000434342.1_Silent_p.F118F NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 118 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GTGGGAACTTCGTCAGGCTCA 0.647000 9 55 0 0 0.006214 0 0 MPP7 143098 broad.mit.edu 37 10 28409531 28409531 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28409531C>T ENST00000337532.5 - 10 958 c.682G>A c.(682-684)Gaa>Aaa p.E228K MPP7_ENST00000445954.2_Missense_Mutation_p.E103K|MPP7_ENST00000540098.1_Missense_Mutation_p.E228K|MPP7_ENST00000375719.3_Missense_Mutation_p.E228K|MPP7_ENST00000375732.1_Missense_Mutation_p.E228K NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 228 SH3. 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 ACCTTGCCTTCTTTTGATGGT 0.388000 13 19 0 0 0.002450 0 0 PRPF8 10594 broad.mit.edu 37 17 1582092 1582092 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:1582092G>A ENST00000572621.1 - 11 1948 c.1683C>T c.(1681-1683)caC>caT p.H561H PRPF8_ENST00000304992.6_Silent_p.H561H Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 561 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GATACTGCACGTGACTATCCA 0.522000 20 12 0 0 0.003954 0 0 RAF1 5894 broad.mit.edu 37 3 12660162 12660162 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:12660162G>A ENST00000251849.4 - 2 498 c.59C>T c.(58-60)gCc>gTc p.A20V RAF1_ENST00000542177.1_5'UTR|RAF1_ENST00000442415.2_Missense_Mutation_p.A20V NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 20 activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) ATCAAACACGGCATCTTTGAA 0.453000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 30 47 0 0 0.002096 0 0 ZNF491 126069 broad.mit.edu 37 19 11917700 11917700 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:11917700C>T ENST00000323169.5 + 3 1263 c.932C>T c.(931-933)tCc>tTc p.S311F ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 TTCACTTGTTCCACTTCGTTT 0.433000 16 8 0 0 0.003163 0 0 CACNA1E 777 broad.mit.edu 37 1 181745302 181745302 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:181745302C>T ENST00000526775.1 + 37 5313 c.5148C>T c.(5146-5148)atC>atT p.I1716I CACNA1E_ENST00000358338.5_Silent_p.I1667I|CACNA1E_ENST00000367573.2_Silent_p.I1735I|CACNA1E_ENST00000367567.4_Silent_p.I1342I|CACNA1E_ENST00000357570.5_Silent_p.I1686I|CACNA1E_ENST00000367570.1_Silent_p.I1735I|CACNA1E_ENST00000360108.3_Silent_p.I1716I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1735 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.I1735I(1) 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 ACTCCTCCATCCTGGGGCCTC 0.607000 62 97 0 0 0.003610 0 0 FBXO44 93611 broad.mit.edu 37 1 11716079 11716079 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:11716079C>T ENST00000376770.1 + 3 685 c.187C>T c.(187-189)Cag>Tag p.Q63* FBXO44_ENST00000251547.5_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000376760.1_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.Q63* NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 63 protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGACTGGGACCAGCCCGTGGC 0.632000 37 61 0 0 0.005524 0 0 SLC38A10 124565 broad.mit.edu 37 17 79225062 79225062 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:79225062G>A ENST00000288439.5 - 14 2641 c.2296C>T c.(2296-2298)Cgt>Tgt p.R766C SLC38A10_ENST00000374759.3_Intron NM_138570.2 NP_612637.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 0 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCCATGTGACGATGCCGCAGG 0.488000 72 113 0 0 0.003610 0 0 ITGAD 3681 broad.mit.edu 37 16 31424240 31424240 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:31424240G>A ENST00000389202.2 + 15 1838 c.1789G>A c.(1789-1791)Gga>Aga p.G597R NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 597 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 CACCCAGGATGGACTGATGGA 0.652000 13 59 0 0 0.001855 0 0 PSPH 5723 broad.mit.edu 37 7 56085030 56085030 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:56085030G>A ENST00000395471.3 - 6 1123 c.318C>T c.(316-318)ttC>ttT p.F106F PSPH_ENST00000275605.3_Silent_p.F106F|PSPH_ENST00000459834.1_Intron P78330 SERB_HUMAN phosphoserine phosphatase 106 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAGATATTAGGAAAACCTGAA 0.363000 9 21 0 0 0.004482 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86863241 86863241 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:86863241G>A ENST00000395184.1 + 5 880 c.414G>A c.(412-414)gaG>gaA p.E138E ARHGAP24_ENST00000395183.2_Silent_p.E43E|ARHGAP24_ENST00000264343.4_Silent_p.E45E|ARHGAP24_ENST00000503995.1_Silent_p.E138E NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 138 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AGAAACTGGAGGATACTGTTC 0.413000 15 30 0 0 0.004990 0 0 LRP12 29967 broad.mit.edu 37 8 105511596 105511596 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:105511596G>A ENST00000276654.5 - 4 532 c.424C>T c.(424-426)Cat>Tat p.H142Y LRP12_ENST00000424843.2_Missense_Mutation_p.H123Y NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 142 CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCATCCGAATGAAACCTAATC 0.348000 34 72 0 0 0.004878 0 0 POPDC2 64091 broad.mit.edu 37 3 119378809 119378809 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:119378809G>A ENST00000493094.1 - 1 921 c.462C>T c.(460-462)atC>atT p.I154I POPDC2_ENST00000264231.3_Silent_p.I154I|POPDC2_ENST00000468801.1_Silent_p.I154I|POPDC2_ENST00000538678.1_Silent_p.I154I|POPDC2_ENST00000474523.1_5'UTR Q9HBU9 POPD2_HUMAN popeye domain containing 2 154 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) ACAGGCGGTTGATGGGTGTCT 0.532000 41 35 0 0 0.008740 0 0 TTN 7273 broad.mit.edu 37 2 179593061 179593061 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179593061G>A ENST00000589042.1 - 67 19714 c.19490C>T c.(19489-19491)tCt>tTt p.S6497F TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6180F|TTN_ENST00000342992.6_Missense_Mutation_p.S5253F|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6180 Ig-like 46. 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) CATATGAATAGAAGAGCCCAG 0.368000 4 17 0 0 0.000248 0 0 ABCB5 340273 broad.mit.edu 37 7 20721179 20721179 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:20721179C>T ENST00000404938.2 + 15 2411 c.1759C>T c.(1759-1761)Cga>Tga p.R587* ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R142* NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 142 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTCTACTATTCGAAGTGCAGA 0.398000 20 35 0 0 0.008871 0 0 WDPCP 51057 broad.mit.edu 37 2 63380059 63380059 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:63380059C>T ENST00000409120.1 - 11 5154 c.1604G>A c.(1603-1605)gGc>gAc p.G535D WDPCP_ENST00000272321.7_Missense_Mutation_p.G727D|WDPCP_ENST00000409199.1_Missense_Mutation_p.G535D|WDPCP_ENST00000398544.3_Missense_Mutation_p.G568D O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 727 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane p.G727V(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 CTGTTCTCTGCCGTCTTCTCT 0.274000 14 24 0 0 0.004990 0 0 ERICH1 157697 broad.mit.edu 37 8 623858 623858 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:623858A>T ENST00000262109.7 - 4 571 c.494T>A c.(493-495)cTg>cAg p.L165Q ERICH1_ENST00000522706.1_Missense_Mutation_p.L71Q NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 165 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TTTCTTTTTCAGTTTCCTTTT 0.438000 49 53 0 0 0.003610 0 0 TTC4 7268 broad.mit.edu 37 1 55207154 55207154 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:55207154C>T ENST00000371281.3 + 10 1219 c.1132C>T c.(1132-1134)Ctc>Ttc p.L378F MROH7_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR NM_004623.4 NP_004614.3 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 378 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 CAAGAATTTTCTCCGGGGGAG 0.507000 52 83 0 0 0.003610 0 0 DBH 1621 broad.mit.edu 37 9 136501715 136501715 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:136501715C>T ENST00000393056.2 + 1 234 c.222C>T c.(220-222)ttC>ttT p.F74F NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 74 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCATCCATTTCCAGCTCCTGG 0.637000 17 11 0 0 0.004007 0 0 PAK7 57144 broad.mit.edu 37 20 9523338 9523338 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:9523338C>T ENST00000378429.3 - 10 2445 c.1899G>A c.(1897-1899)gtG>gtA p.V633V PAK7_ENST00000378423.1_Silent_p.V633V|PAK7_ENST00000353224.5_Silent_p.V633V NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 633 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) TCATTTCTATCACCATGATCC 0.527000 64 77 0 0 0.003610 0 0 FAT4 79633 broad.mit.edu 37 4 126411253 126411253 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:126411253C>T ENST00000394329.3 + 17 13289 c.13276C>T c.(13276-13278)Cct>Tct p.P4426S FAT4_ENST00000335110.5_Missense_Mutation_p.P2667S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4426 EGF-like 6. 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 CAGGTGTGTCCCTCCTGGGGA 0.607000 45 62 0 0 0.008740 0 0 C10orf120 399814 broad.mit.edu 37 10 124457272 124457272 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:124457272T>C ENST00000329446.4 - 3 1016 c.985A>G c.(985-987)Aaa>Gaa p.K329E NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 329 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GGAGTTGCTTTACGCATGCGC 0.453000 32 39 0 0 0.003755 0 0 FAM19A4 151647 broad.mit.edu 37 3 68788229 68788229 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:68788229C>T ENST00000295569.7 - 5 900 c.408G>A c.(406-408)acG>acA p.T136T NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 136 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TACTTGCCTTCGTAGTTTTGA 0.408000 12 70 0 0 0.001855 0 0 CACNA1E 777 broad.mit.edu 37 1 181762924 181762924 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:181762924C>T ENST00000357570.5 + 45 6187 c.5875C>T c.(5875-5877)Ccc>Tcc p.P1959S CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2008S|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1989S Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2008 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 GACTGTGGATCCCCAGGTAAA 0.512000 11 11 0 0 0.001368 0 0 ASIC1 41 broad.mit.edu 37 12 50474934 50474934 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:50474934G>A ENST00000228468.4 + 10 1870 c.1485G>A c.(1483-1485)acG>acA p.T495T ASIC1_ENST00000552438.1_Silent_p.T483T|ASIC1_ENST00000447966.2_Silent_p.T449T NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 449 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCATCCTCACGGTGCTGGAGC 0.731000 11 21 0 0 0.003163 0 0 YME1L1 10730 broad.mit.edu 37 10 27425278 27425278 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:27425278G>A ENST00000326799.3 - 6 786 c.638C>T c.(637-639)tCa>tTa p.S213L YME1L1_ENST00000375972.3_Missense_Mutation_p.S123L|YME1L1_ENST00000376016.3_Missense_Mutation_p.S156L NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 213 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TCGTGTCCTTGATTTCAAAGT 0.358000 19 32 0 0 0.001523 0 0 C6 729 broad.mit.edu 37 5 41155184 41155184 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:41155184A>C ENST00000263413.3 - 14 2255 c.1991T>G c.(1990-1992)gTt>gGt p.V664G C6_ENST00000337836.5_Missense_Mutation_p.V664G NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 664 C5b-binding domain.|Sushi 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) ATCTTCTCCAACCAAGTATAG 0.383000 37 41 0 0 0.006999 0 0 PRSS41 360226 broad.mit.edu 37 16 2854948 2854948 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:2854948G>A ENST00000399677.1 + 0 772 Q7RTY9 PRS41_HUMAN protease, serine, 41 proteolysis anchored to membrane|plasma membrane serine-type endopeptidase activity CTGTGACAAGGATGGACTGTG 0.592000 2 0 0 0 0.004672 0 0 ADAM12 8038 broad.mit.edu 37 10 127737933 127737933 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:127737933G>A ENST00000368679.4 - 16 2124 c.1815C>T c.(1813-1815)atC>atT p.I605I ADAM12_ENST00000368676.4_Silent_p.I605I NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 605 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GCTGCAGGGGGATGTTTGTTT 0.557000 23 78 0 0 0.002299 0 0 DPP10 57628 broad.mit.edu 37 2 116066837 116066837 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:116066837C>T ENST00000410059.1 + 2 563 c.83C>T c.(82-84)cCa>cTa p.P28L DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.P21L|DPP10_ENST00000393147.2_Missense_Mutation_p.P32L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 28 Mediates effects on KCND2. 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 AACAGCCCTCCACAGAGAAAC 0.398000 10 29 0 0 0.000978 0 0 VNN1 8876 broad.mit.edu 37 6 133013564 133013564 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:133013564C>T ENST00000367928.4 - 5 999 c.986G>A c.(985-987)gGa>gAa p.G329E NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 329 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TTCCTTGTTTCCTGATGAGAG 0.453000 15 25 0 0 0.004007 0 0 MECOM 2122 broad.mit.edu 37 3 168833510 168833510 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:168833510G>A ENST00000464456.1 - 7 2786 c.1586C>T c.(1585-1587)tCg>tTg p.S529L MECOM_ENST00000472280.1_Missense_Mutation_p.S530L|MECOM_ENST00000264674.3_Missense_Mutation_p.S594L|MECOM_ENST00000494292.1_Missense_Mutation_p.S717L|MECOM_ENST00000392736.3_Missense_Mutation_p.S529L|MECOM_ENST00000460814.1_Missense_Mutation_p.S529L|MECOM_ENST00000468789.1_Missense_Mutation_p.S529L|MECOM_ENST00000433243.2_Missense_Mutation_p.S530L NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CAAAGGTAACGATCTCAAGTC 0.438000 14 54 0 0 0.002450 0 0 BNIP2 663 broad.mit.edu 37 15 59961534 59961534 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:59961534G>A ENST00000267859.3 - 8 1191 c.1098C>T c.(1096-1098)atC>atT p.I366I BNIP2_ENST00000607373.1_Silent_p.I245I|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Silent_p.I307I Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 245 anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 GATGTACAATGATTAGGGATT 0.279000 27 49 0 0 0.006320 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603430 140603430 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140603430G>A ENST00000239449.4 + 1 353 c.353G>A c.(352-354)cGg>cAg p.R118Q PCDHB14_ENST00000515856.2_Intron NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 118 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTTTTTTCGGTTTGAGCTG 0.433000 24 84 0 0 0.003330 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203800888 203800888 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:203800888C>T ENST00000545588.1 + 8 4627 c.800C>T c.(799-801)tCc>tTc p.S267F ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S267F|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S267F|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S267F|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S267F NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 267 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GTAACTCTCTCCACCAAACAA 0.428000 11 28 0 0 0.008291 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122263337 122263337 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:122263337G>A ENST00000398250.1 + 2 416 c.64G>A c.(64-66)Gag>Aag p.E22K PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.E12K|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.E22K|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.E22K|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.E22K NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 22 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CAGTTTTACAGAGTTTTTGGA 0.458000 7 27 0 0 0.001984 0 0 KNTC1 9735 broad.mit.edu 37 12 123102893 123102893 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:123102893C>T ENST00000333479.7 + 58 6211 c.6034C>T c.(6034-6036)Ccc>Tcc p.P2012S KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.P937S|KNTC1_ENST00000537348.1_3'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 2012 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTCACAGGTTCCCTACTTCAG 0.443000 10 20 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34052145 34052145 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:34052145C>T ENST00000373381.4 - 46 7186 c.7010G>A c.(7009-7011)gGa>gAa p.G2337E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2339 Sushi 13. 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) CAGGTAGGTTCCAAGTTTGCA 0.488000 21 55 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179611474 179611474 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179611474C>T ENST00000360870.5 - 46 15875 c.15653G>A c.(15652-15654)cGa>cAa p.R5218Q TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8737 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R5218Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGATTTATTTCGATACCATTT 0.373000 30 39 0 0 0.001786 0 0 BTN3A2 11118 broad.mit.edu 37 6 26370597 26370597 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:26370597G>A ENST00000356386.2 + 5 669 c.481G>A c.(481-483)Ggg>Agg p.G161R BTN3A2_ENST00000377708.2_Missense_Mutation_p.G161R|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G161R|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G119R|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G161R|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G138R NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 161 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 TGAGGATGGAGGGATCCATCT 0.527000 28 66 0 0 0.005443 0 0 KPNA6 23633 broad.mit.edu 37 1 32620246 32620246 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:32620246C>T ENST00000373625.3 + 2 155 c.62C>T c.(61-63)gCt>gTt p.A21V KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.A18V|KPNA6_ENST00000545542.1_Missense_Mutation_p.A26V NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 21 IBB. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AAGAACAATGCTCTAAACCCT 0.443000 12 31 0 0 0.001855 0 0 SUPT20H 55578 broad.mit.edu 37 13 37618230 37618230 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:37618230G>A ENST00000360252.4 - 7 631 c.384C>T c.(382-384)ctC>ctT p.L128L SUPT20H_ENST00000542180.1_Silent_p.L115L|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000350612.6_Silent_p.L127L|SUPT20H_ENST00000475892.1_Silent_p.L127L|SUPT20H_ENST00000356185.3_Silent_p.L128L|SUPT20H_ENST00000464744.1_Silent_p.L128L NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) ATTTTTCTAGGAGATCAACCA 0.289000 21 40 0 0 0.002780 0 0 ATP10B 23120 broad.mit.edu 37 5 160049461 160049461 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:160049461G>A ENST00000327245.5 - 14 2598 c.1752C>T c.(1750-1752)ttC>ttT p.F584F CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 584 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 NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTAAGGCAAGGAAGAAATCAG 0.572000 10 28 0 0 0.006214 0 0 HELQ 113510 broad.mit.edu 37 4 84339276 84339276 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:84339276G>A ENST00000295488.3 - 16 3195 c.3033C>T c.(3031-3033)atC>atT p.I1011I HELQ_ENST00000510985.1_Silent_p.I944I NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 1011 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 CCATGAGAGGGATTAATTCTG 0.378000 Other identified genes with known or suspected DNA repair function 75 159 0 0 0.003610 0 0 TANC1 85461 broad.mit.edu 37 2 160087160 160087160 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:160087160C>T ENST00000263635.6 + 27 5460 c.5223C>T c.(5221-5223)agC>agT p.S1741S TANC1_ENST00000454300.1_Silent_p.S1635S NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1741 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 ATCCTCCAAGCCGCAGCTGGC 0.582000 29 75 0 0 0.002096 0 0 VN1R2 317701 broad.mit.edu 37 19 53762278 53762278 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:53762278G>A ENST00000341702.3 + 1 734 c.650G>A c.(649-651)tGg>tAg p.W217* NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 217 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ATCCTGTGCTGGGCCTTCCAC 0.443000 19 30 0 0 0.007413 0 0 NPAS3 64067 broad.mit.edu 37 14 34270029 34270029 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:34270029C>T ENST00000346562.2 + 11 2494 c.2420C>T c.(2419-2421)gCc>gTc p.A807V NPAS3_ENST00000548645.1_Missense_Mutation_p.A809V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A844V|NPAS3_ENST00000356141.4_Missense_Mutation_p.A839V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A826V NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 839 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GTGACCCTGGCCATGCAGAGC 0.677000 5 8 0 0 0.000602 0 0 BACH1 571 broad.mit.edu 37 21 30698862 30698862 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:30698862C>T ENST00000399921.1 + 3 960 c.717C>T c.(715-717)gtC>gtT p.V239V BACH1_ENST00000286800.3_Silent_p.V239V NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 239 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 CTGACAGAGTCCGTACTGGGG 0.448000 30 21 0 0 0.006320 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110468544 110468544 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:110468544G>A ENST00000378402.5 + 46 7032 c.6928G>A c.(6928-6930)Gaa>Aaa p.E2310K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2310 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) AAAGGCAGGGGAAAGAATTTT 0.413000 HNSCC(38;0.096) 11 21 0 0 0.008291 0 0 C7 730 broad.mit.edu 37 5 40950039 40950039 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:40950039C>T ENST00000313164.9 + 9 1375 c.1016C>T c.(1015-1017)tCc>tTc p.S339F NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 339 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AAATGTAAATCCTCAGGTTGG 0.348000 13 13 0 0 0.002450 0 0 SLC2A9 56606 broad.mit.edu 37 4 9828100 9828100 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:9828100G>A ENST00000506583.1 - 14 1674 c.1457C>T c.(1456-1458)tCc>tTc p.S486F SLC2A9_ENST00000264784.3_Missense_Mutation_p.S515F|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S486F Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 515 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GTTCCTTTTGGAAAATGCCTG 0.428000 50 92 0 0 0.003610 0 0 PCDH17 27253 broad.mit.edu 37 13 58207291 58207291 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:58207291A>G ENST00000377918.3 + 1 637 c.611A>G c.(610-612)gAg>gGg p.E204G NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 204 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTGGACCGCGAGCAACAGAAT 0.602000 12 27 0 0 0.002450 0 0 KCTD6 200845 broad.mit.edu 37 3 58486760 58486760 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:58486760G>A ENST00000355076.6 + 2 1098 c.115G>A c.(115-117)Gga>Aga p.G39R KCTD6_ENST00000490264.1_Missense_Mutation_p.G39R|KCTD6_ENST00000404589.3_Missense_Mutation_p.G39R|KCTD6_ENST00000479470.1_3'UTR NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 39 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) TTCCATGCTTGGAGCTATGTT 0.458000 36 117 0 0 0.006230 0 0 DARC 2532 broad.mit.edu 37 1 159176032 159176032 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:159176032C>T ENST00000537147.1 + 3 1646 c.803C>T c.(802-804)tCc>tTc p.S268F DARC_ENST00000368122.2_Missense_Mutation_p.S268F|DARC_ENST00000368121.2_Missense_Mutation_p.S270F Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 268 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) CTGGTGAGGTCCAAGCTGTTG 0.567000 68 111 0 0 0.003610 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013082 73013082 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:73013082C>T ENST00000308744.6 + 4 1220 c.1122C>T c.(1120-1122)atC>atT p.I374I NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.I272I|NPFFR2_ENST00000395999.1_Silent_p.I275I NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 374 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AGCAGAAGATCATTAAGATGC 0.498000 17 47 0 0 0.004007 0 0 OR5H2 79310 broad.mit.edu 37 3 98001872 98001872 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:98001872C>T ENST00000355273.2 + 1 141 c.141C>T c.(139-141)aaC>aaT p.N47N RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TTGTGTGGAACCTTGGTCTGA 0.428000 99 96 0 0 0.003610 0 0 SCGN 10590 broad.mit.edu 37 6 25665236 25665236 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:25665236G>A ENST00000377961.2 + 4 480 c.312G>A c.(310-312)ctG>ctA p.L104L SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 104 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 AAAACCCACTGGACAGCAGCG 0.488000 18 53 0 0 0.007413 0 0 AADACL4 343066 broad.mit.edu 37 1 12704613 12704613 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:12704613C>T ENST00000376221.1 + 1 48 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 16 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) CCATCTTTTTCCTGGGGGTCT 0.532000 57 112 0 0 0.003610 0 0 SRGAP3 9901 broad.mit.edu 37 3 9166511 9166511 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:9166511A>G ENST00000383836.3 - 2 585 c.158T>C c.(157-159)tTc>tCc p.F53S SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.F53S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 53 FCH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TTTCCGGCGGAAAAACTCCTG 0.592000 T RAF1 pilocytic astrocytoma 22 45 0 0 0.001882 0 0 CSMD1 64478 broad.mit.edu 37 8 2876151 2876151 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:2876151G>A ENST00000602557.1 - 53 8435 c.7880C>T c.(7879-7881)tCc>tTc p.S2627F CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2626F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S2627F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2627 Sushi 17. integral to membrane p.S2355F(1)|p.S2626F(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGGGGAAAGGAAAGGCTTCC 0.423000 44 78 0 0 0.002852 0 0 ALOX15 246 broad.mit.edu 37 17 4540538 4540538 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:4540538C>T ENST00000570836.1 - 8 919 c.823G>A c.(823-825)Gaa>Aaa p.E275K ALOX15_ENST00000293761.3_Missense_Mutation_p.E275K|ALOX15_ENST00000574640.1_Missense_Mutation_p.E236K|ALOX15_ENST00000545513.1_Missense_Mutation_p.E297K P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 275 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AAGTCAGCTTCGAACAGTGTG 0.547000 18 13 0 0 0.001523 0 0 CDH23 64072 broad.mit.edu 37 10 73405631 73405631 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:73405631C>T ENST00000224721.6 + 12 1204 c.1199C>T c.(1198-1200)tCc>tTc p.S400F CDH23_ENST00000398842.3_Missense_Mutation_p.S395F|CDH23_ENST00000299366.7_Missense_Mutation_p.S440F|CDH23_ENST00000398809.4_Missense_Mutation_p.S395F|CDH23_ENST00000461841.3_Missense_Mutation_p.S440F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 395 Cadherin 4. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGAACAACTCCCACCACTTC 0.582000 18 15 0 0 0.001523 0 0 NFASC 23114 broad.mit.edu 37 1 204966398 204966398 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:204966398C>T ENST00000367172.4 + 27 3532 c.3204C>T c.(3202-3204)ccC>ccT p.P1068P NFASC_ENST00000367171.4_Silent_p.P1053P|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000401399.1_Silent_p.P961P|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Silent_p.P1068P|NFASC_ENST00000339876.6_Silent_p.P961P O94856 NFASC_HUMAN neurofascin 1068 Thr-rich. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAACAGTCCCCATCATCCCAA 0.627000 6 12 0 0 0.001168 0 0 MYPN 84665 broad.mit.edu 37 10 69966578 69966578 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:69966578G>A ENST00000358913.5 + 19 4199 c.3711G>A c.(3709-3711)aaG>aaA p.K1237K MYPN_ENST00000354393.2_Silent_p.K962K|MYPN_ENST00000540630.1_Silent_p.K1237K NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1237 Ig-like 5.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGCCAGCCAAGAAATCAGACG 0.478000 23 93 0 0 0.003954 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250440 140250440 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140250440G>A ENST00000398640.2 + 1 1752 c.1752G>A c.(1750-1752)gtG>gtA p.V584V PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_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) CGCGGTCGGTGGGTGCGGGCC 0.667000 24 98 0 0 0.003954 0 0 TRPV4 59341 broad.mit.edu 37 12 110238505 110238505 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:110238505G>A ENST00000418703.2 - 4 865 c.771C>T c.(769-771)ctC>ctT p.L257L TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Silent_p.L223L|TRPV4_ENST00000537083.1_Silent_p.L257L|TRPV4_ENST00000261740.2_Silent_p.L257L|TRPV4_ENST00000346520.2_Silent_p.L257L|TRPV4_ENST00000392719.2_Intron NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 257 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCTGGGCCACGAGAAGTTCCA 0.637000 25 33 0 0 0.005443 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145869 81145869 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:81145869G>A ENST00000534142.1 - 0 1270 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_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 TTCATTTTGGGATTCAACCTG 0.537000 28 97 0 0 0.007291 0 0 OR7D4 125958 broad.mit.edu 37 19 9324872 9324872 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9324872G>A ENST00000308682.2 - 1 670 c.642C>T c.(640-642)atC>atT p.I214I NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGGAGAAGAGGATCCCAGCTA 0.527000 35 71 0 0 0.004289 0 0 ETF1 2107 broad.mit.edu 37 5 137844008 137844008 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:137844008G>A ENST00000499810.2 - 11 1649 c.1201C>T c.(1201-1203)Ctt>Ttt p.L401F ETF1_ENST00000360541.5_Missense_Mutation_p.L434F|ETF1_ENST00000503014.1_Missense_Mutation_p.L420F P62495 ERF1_HUMAN eukaryotic translation termination factor 1 434 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TAGTCATCAAGGTCAAAAAAT 0.483000 13 16 0 0 0.002450 0 0 KCNK13 56659 broad.mit.edu 37 14 90651002 90651002 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:90651002G>A ENST00000282146.4 + 2 1323 c.882G>A c.(880-882)atG>atA p.M294I NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 294 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TGAGGAAAATGGACAGCGGGT 0.532000 35 71 0 0 0.002836 0 0 ENPEP 2028 broad.mit.edu 37 4 111398065 111398065 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:111398065G>A ENST00000265162.5 + 1 837 c.495G>A c.(493-495)aaG>aaA p.K165K NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 165 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding 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) AGTACAAAAAGCAGGAGTACG 0.622000 71 124 0 0 0.003610 0 0 SRY 6736 broad.mit.edu 37 Y 2655550 2655550 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrY:2655550G>A ENST00000383070.1 - 1 190 c.95C>T c.(94-96)tCt>tTt p.S32F SRY_ENST00000534739.2_Missense_Mutation_p.S32F|SRY_ENST00000525526.2_Missense_Mutation_p.S32F NM_003140.2 NP_003131.1 Q05066 SRY_HUMAN sex determining region Y 32 cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(1)|prostate(1) 2 AAGGAAGGAAGAGCTTCTCCG 0.448000 Swyer syndrome 32 15 0 0 0.002096 0 0 PAK7 57144 broad.mit.edu 37 20 9546725 9546725 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:9546725G>A ENST00000378429.3 - 6 1843 c.1297C>T c.(1297-1299)Cgg>Tgg p.R433W PAK7_ENST00000378423.1_Missense_Mutation_p.R433W|PAK7_ENST00000353224.5_Missense_Mutation_p.R433W NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 433 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) AGGGCCGCCCGAAACTGTTCA 0.627000 33 52 0 0 0.002096 0 0 MYO5B 4645 broad.mit.edu 37 18 47352939 47352939 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:47352939T>G ENST00000285039.7 - 40 5748 c.5449A>C c.(5449-5451)Atg>Ctg p.M1817L RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.M140L|MYO5B_ENST00000324581.6_Missense_Mutation_p.M932L|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.M387L NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1817 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) ACAGGAAACATGTGCTTGGCA 0.423000 26 37 0 0 0.004656 0 0 AIFM2 84883 broad.mit.edu 37 10 71880960 71880960 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:71880960G>A ENST00000307864.1 - 4 515 c.302C>T c.(301-303)cCc>cTc p.P101L AIFM2_ENST00000373248.1_Missense_Mutation_p.P101L NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 101 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 ATGAGAGAAGGGCAGGGCCTG 0.532000 7 29 0 0 0.004482 0 0 ADPRM 56985 broad.mit.edu 37 17 10608567 10608567 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10608567G>A ENST00000379774.4 + 2 415 c.324G>A c.(322-324)tgG>tgA p.W108* ADPRM_ENST00000527582.2_Nonsense_Mutation_p.W108* NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent ATCATACATGGGGAAACCATG 0.358000 30 18 0 0 0.008361 0 0 MYOF 26509 broad.mit.edu 37 10 95191274 95191274 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:95191274C>T ENST00000371501.4 - 4 359 c.e4-1 MYOF_ENST00000359263.4_Splice_Site|MYOF_ENST00000371489.1_Splice_Site|MYOF_ENST00000371502.4_Splice_Site|MYOF_ENST00000371488.3_Splice_Site|MYOF_ENST00000358334.5_Splice_Site Q9NZM1 MYOF_HUMAN myoferlin blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCCAATTAATCTGCAGGGAAA 0.493000 10 25 0 0 0.008291 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374817 8374817 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:8374817T>C ENST00000538603.1 - 7 1554 c.996A>G c.(994-996)caA>caG p.Q332Q FAM90A1_ENST00000307435.6_Silent_p.Q332Q NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 332 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) CTGGCGGAGGTTGGAGATTCT 0.652000 5 14 0 0 0.000602 0 0 FSHR 2492 broad.mit.edu 37 2 49381423 49381423 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:49381423G>T ENST00000406846.2 - 1 253 c.134C>A c.(133-135)cCg>cAg p.P45Q FSHR_ENST00000304421.4_Missense_Mutation_p.P45Q|FSHR_ENST00000346173.3_Missense_Mutation_p.P45Q NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 45 LRRNT. 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) GGCATTCCTCGGGAGGTCAGA 0.473000 Gonadal Dysgenesis, 46 XX 9 43 6.42651e-13 7.16212e-13 0.000978 1 0 PTPRJ 5795 broad.mit.edu 37 11 48149502 48149502 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:48149502C>T ENST00000418331.2 + 7 1616 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S PTPRJ_ENST00000440289.2_Missense_Mutation_p.P422S NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 422 Fibronectin type-III 4. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CGCTGTCATCCCCGGACTCCG 0.552000 34 59 0 0 0.003755 0 0 CCNK 8812 broad.mit.edu 37 14 99959863 99959863 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:99959863C>T ENST00000389879.5 + 3 333 c.210C>T c.(208-210)acC>acT p.T70T CCNK_ENST00000555049.1_Silent_p.T70T|CCNK_ENST00000557165.1_3'UTR NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 70 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ACTATGATACCCTGGCAACTG 0.313000 19 37 0 0 0.007413 0 0 NRG1 3084 broad.mit.edu 37 8 31498200 31498200 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:31498200C>T ENST00000520407.1 + 1 930 c.700C>T c.(700-702)Cgg>Tgg p.R234W NRG1_ENST00000519301.1_Intron NM_013962.2 NP_039256.2 Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GGAGACGGGCCGGAACCTCAA 0.692000 13 10 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9048764 9048764 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9048764A>G ENST00000397910.4 - 5 33070 c.32867T>C c.(32866-32868)cTt>cCt p.L10956P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10958 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 TGGTTCACCAAGAGAAAAAGT 0.498000 15 85 0 0 0.003163 0 0 ARAP2 116984 broad.mit.edu 37 4 36162209 36162209 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:36162209G>A ENST00000303965.4 - 13 2803 c.2314C>T c.(2314-2316)Caa>Taa p.Q772* NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 772 Arf-GAP. 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 TCATCCTTTTGAAGATTACCA 0.294000 4 26 0 0 0.001168 0 0 GUCY2D 3000 broad.mit.edu 37 17 7915885 7915885 + Missense_Mutation SNP G G A rs61750163 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:7915885G>A ENST00000254854.4 + 10 2224 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 692 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GAGACTGCTGGAAGCACAGAA 0.592000 39 26 0 0 0.002522 0 0 APOB 338 broad.mit.edu 37 2 21249786 21249786 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:21249786C>T ENST00000233242.1 - 15 2245 c.2118G>A c.(2116-2118)ggG>ggA p.G706G APOB_ENST00000399256.4_Silent_p.G706G NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 706 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) ATCCTTGCTTCCCAAAAAGAG 0.418000 75 263 0 0 0.003610 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110487398 110487398 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:110487398G>A ENST00000378402.5 + 51 8761 c.8657G>A c.(8656-8658)tGg>tAg p.W2886* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2886 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) ATGTCTGGATGGATGGCTCTG 0.348000 HNSCC(38;0.096) 24 50 0 0 0.004656 0 0 TUBB3 10381 broad.mit.edu 37 16 90001540 90001540 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:90001540C>T ENST00000304984.5 + 3 2760 c.465C>T c.(463-465)caC>caT p.H155H TUBB3_ENST00000315491.7_Silent_p.H227H|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.H574H|TUBB3_ENST00000554444.1_Silent_p.H155H Q13509 TBB3_HUMAN tubulin, beta 3 class III 227 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) ACCTCAACCACCTGGTATCGG 0.627000 9 43 0 0 0.004482 0 0 GABBR2 9568 broad.mit.edu 37 9 101056148 101056148 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:101056148T>A ENST00000259455.2 - 18 3038 c.2579A>T c.(2578-2580)cAa>cTa p.Q860L NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 860 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CTGGGGATTTTGATCGAGGTG 0.383000 46 30 0 0 0.003610 0 0 DOCK3 1795 broad.mit.edu 37 3 51393867 51393867 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:51393867C>T ENST00000266037.9 + 43 4469 c.4446C>T c.(4444-4446)acC>acT p.T1482T NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1482 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) CCACACTGACCCTGACCCACA 0.542000 29 93 0 0 0.002445 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110406674 110406674 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:110406674T>C ENST00000378402.5 + 10 875 c.771T>C c.(769-771)gtT>gtC p.V257V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 257 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) CATATTTTGTTTCTTCTCTCA 0.318000 HNSCC(38;0.096) 4 2 0 0 0.000602 0 0 IGSF22 283284 broad.mit.edu 37 11 18739491 18739491 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:18739491C>T ENST00000513874.1 - 9 1099 c.960G>A c.(958-960)gaG>gaA p.E320E RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 320 Ig-like 2. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GCACTGTGAGCTCTGCACTCA 0.547000 14 70 0 0 0.004007 0 0 A2ML1 144568 broad.mit.edu 37 12 9013789 9013789 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:9013789A>G ENST00000299698.7 + 28 3578 c.3398A>G c.(3397-3399)aAc>aGc p.N1133S A2ML1_ENST00000539547.1_Missense_Mutation_p.N642S NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 977 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 TCCACGACCAACCTCTACACA 0.458000 34 72 0 0 0.002836 0 0 DNAH8 1769 broad.mit.edu 37 6 38749036 38749036 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:38749036C>T ENST00000359357.3 + 14 1749 c.1495C>T c.(1495-1497)Cat>Tat p.H499Y DNAH8_ENST00000449981.2_Missense_Mutation_p.H716Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.H499Y 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 ACAGCTTTATCATTCTCAGAA 0.378000 21 39 0 0 0.003330 0 0 WDR62 284403 broad.mit.edu 37 19 36575559 36575559 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:36575559C>T ENST00000401500.2 + 12 1590 c.1555C>T c.(1555-1557)Cac>Tac p.H519Y WDR62_ENST00000270301.7_Missense_Mutation_p.H519Y NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 519 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCCAGGATCCACGAGCTGCA 0.607000 32 46 0 0 0.003271 0 0 HCN1 348980 broad.mit.edu 37 5 45262407 45262407 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:45262407C>T ENST00000303230.4 - 8 2346 c.2289G>A c.(2287-2289)ccG>ccA p.P763P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 763 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 CTTCATTTTTCGGCGTGGAGC 0.652000 9 43 0 0 0.004482 0 0 ITPR2 3709 broad.mit.edu 37 12 26749938 26749938 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:26749938G>A ENST00000381340.3 - 31 4548 c.4132C>T c.(4132-4134)Ctg>Ttg p.L1378L NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1378 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AACTCCACCAGGGTGATGTGG 0.488000 38 74 0 0 0.004878 0 0 ACTR1A 10121 broad.mit.edu 37 10 104248026 104248026 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:104248026G>A ENST00000369905.4 - 4 259 c.196C>T c.(196-198)Cga>Tga p.R66* ACTR1A_ENST00000487599.1_Nonsense_Mutation_p.R66*|ACTR1A_ENST00000545684.1_5'UTR|ACTR1A_ENST00000446605.2_Nonsense_Mutation_p.R19* NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 66 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) AGCAGCCCTCGGTGCTCCTGG 0.517000 10 52 0 0 0.008291 0 0 EPHA6 285220 broad.mit.edu 37 3 96706570 96706570 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:96706570C>T ENST00000389672.5 + 3 885 c.847C>T c.(847-849)Caa>Taa p.Q283* EPHA6_ENST00000542517.1_Nonsense_Mutation_p.Q189*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.Q283* NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 188 integral to plasma membrane ATP binding|ephrin receptor activity p.Q189E(4)|p.Q283E(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCTGGCTTTTCAAGACATTGG 0.458000 9 238 0 0 0.006214 0 0 PRKG2 5593 broad.mit.edu 37 4 82125919 82125919 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:82125919G>A ENST00000395578.1 - 2 399 c.283C>T c.(283-285)Cag>Tag p.Q95* PRKG2_ENST00000418486.2_Nonsense_Mutation_p.Q95*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.Q95* Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 95 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GGAGAGGCCTGAAGCGGGCTT 0.562000 51 108 0 0 0.003610 0 0 TGM6 343641 broad.mit.edu 37 20 2378637 2378637 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:2378637C>T ENST00000202625.2 + 5 678 c.617C>T c.(616-618)aCc>aTc p.T206I TGM6_ENST00000381423.1_Missense_Mutation_p.T206I|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 206 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AACCCAGCCACCGACGTGTCC 0.577000 15 40 0 0 0.004007 0 0 NSD1 64324 broad.mit.edu 37 5 176696747 176696747 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:176696747G>A ENST00000439151.2 + 16 5493 c.5448G>A c.(5446-5448)atG>atA p.M1816I NSD1_ENST00000361032.4_Missense_Mutation_p.M1713I|NSD1_ENST00000354179.4_Missense_Mutation_p.M1547I|NSD1_ENST00000347982.4_Missense_Mutation_p.M1547I NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1816 PWWP 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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;0.198) Kidney(146;0.235) TCCCTTACATGGAGGGTGACG 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 13 71 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179472736 179472736 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179472736G>A ENST00000589042.1 - 276 53002 c.52778C>T c.(52777-52779)cCa>cTa p.P17593L TTN_ENST00000359218.5_Missense_Mutation_p.P8653L|TTN_ENST00000342175.6_Missense_Mutation_p.P8720L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15952L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15025L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8528L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15952 Fibronectin type-III 27. 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) ATTGAAAGCTGGGGGTTCCCA 0.448000 10 28 0 0 0.006214 0 0 C17orf97 400566 broad.mit.edu 37 17 263446 263446 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:263446C>T ENST00000360127.6 + 2 828 c.812C>T c.(811-813)gCc>gTc p.A271V AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 301 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 GACCCTGAGGCCCTCAAGGGT 0.687000 14 6 0 0 0.001855 0 0 PEG3 5178 broad.mit.edu 37 19 57326059 57326059 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57326059C>T ENST00000326441.9 - 10 4114 c.3751G>A c.(3751-3753)Gat>Aat p.D1251N PEG3_ENST00000593695.1_Missense_Mutation_p.D1125N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1251N|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1127N|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1251 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) TCCAGTAAATCATCTTCCCTA 0.483000 9 28 0 0 0.004482 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506099 178506099 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:178506099G>A ENST00000315475.6 + 5 972 c.666G>A c.(664-666)ggG>ggA p.G222G NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) ATGAATGTGGGAAGAGCTTCA 0.363000 12 30 0 0 0.000978 0 0 BPI 671 broad.mit.edu 37 20 36954783 36954783 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:36954783C>T ENST00000262865.4 + 10 1211 c.1122C>T c.(1120-1122)gcC>gcT p.A374A CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 374 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) ATGTCCAGGCCTTTGCCGTCC 0.592000 11 20 0 0 0.001855 0 0 ZNF600 162966 broad.mit.edu 37 19 53269038 53269038 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:53269038C>T ENST00000338230.3 - 3 2238 c.1971G>A c.(1969-1971)agG>agA p.R657R NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) GATGAATTCTCCTATGTCTTT 0.378000 39 64 0 0 0.006230 0 0 WT1-AS 51352 broad.mit.edu 37 11 32460385 32460385 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:32460385G>A ENST00000395900.1 + 0 1263 WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA NR_023920.1 endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 cgtccagttggaggttttacc 0.498000 13 10 0 0 0.001368 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997311 19997311 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:19997311G>A ENST00000391403.2 - 1 567 c.464C>T c.(463-465)tCa>tTa p.S155L NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 155 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGCTACTTGTGATTTGAGGGA 0.353000 29 117 0 0 0.008361 0 0 ZNF142 7701 broad.mit.edu 37 2 219509210 219509210 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219509210C>T ENST00000411696.2 - 7 2808 c.2029G>A c.(2029-2031)Ggt>Agt p.G677S ZNF142_ENST00000449707.1_Missense_Mutation_p.G677S P52746 ZN142_HUMAN zinc finger protein 142 677 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCCAGGTCACCCCCATGGGGA 0.637000 19 34 0 0 0.001523 0 0 SGMS1 259230 broad.mit.edu 37 10 52071083 52071083 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:52071083C>T ENST00000361781.2 - 9 1793 c.834G>A c.(832-834)ggG>ggA p.G278G SGMS1_ENST00000429490.1_Silent_p.G109G NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 284 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 ACAGATAGTCCCCACACATGT 0.463000 12 34 0 0 0.000978 0 0 C1orf116 79098 broad.mit.edu 37 1 207196511 207196511 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:207196511G>A ENST00000359470.5 - 4 847 c.598C>T c.(598-600)Ccg>Tcg p.P200S C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 200 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GCTTCTGGCGGAGGGATGAGC 0.657000 57 101 0 0 0.003610 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128626 68128626 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:68128626G>A ENST00000585558.1 + 4 891 c.503G>A c.(502-504)gGa>gAa p.G168E KCNJ16_ENST00000586462.1_Missense_Mutation_p.G172E|KCNJ16_ENST00000283936.1_Missense_Mutation_p.G133E|KCNJ16_ENST00000392671.1_Missense_Mutation_p.G133E|KCNJ16_ENST00000589377.1_Missense_Mutation_p.G133E|KCNJ16_ENST00000392670.1_Missense_Mutation_p.G133E Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 133 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) ACCACCATAGGATATGGTTAT 0.438000 24 30 0 0 0.002299 0 0 NEBL 10529 broad.mit.edu 37 10 21185941 21185941 + Silent SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:21185941A>C ENST00000377122.4 - 2 495 c.99T>G c.(97-99)gtT>gtG p.V33V NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.V33V|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 33 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 AGTCTTCAATAACAGGCTTAT 0.363000 67 104 0 0 0.003610 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187712479 187712479 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:187712479G>A ENST00000295131.2 - 2 248 c.209C>T c.(208-210)cCg>cTg p.P70L NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 70 apoptosis zinc ion binding p.P70Q(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCCTCCTTTCGGAAATGTGGA 0.348000 29 55 0 0 0.002836 0 0 GOLGA1 2800 broad.mit.edu 37 9 127650642 127650642 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:127650642G>A ENST00000373555.4 - 19 2128 c.1795C>T c.(1795-1797)Cag>Tag p.Q599* NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 599 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GTTGGAAGCTGGAACACAGGG 0.547000 64 43 0 0 0.003610 0 0 NPAS2 4862 broad.mit.edu 37 2 101598751 101598751 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:101598751G>A ENST00000335681.5 + 16 1826 c.1541G>A c.(1540-1542)cGg>cAg p.R514Q NPAS2_ENST00000542504.1_Missense_Mutation_p.R579Q NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 514 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGCGGACGCGGATCCTGCAG 0.532000 19 16 0 0 0.008871 0 0 OR8H3 390152 broad.mit.edu 37 11 55889898 55889898 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:55889898G>A ENST00000313472.3 + 1 50 c.50G>A c.(49-51)gGa>gAa p.G17E NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ATCCTTACGGGACTGTCAGAC 0.443000 41 56 0 0 0.007835 0 0 EYS 346007 broad.mit.edu 37 6 66044969 66044969 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:66044969C>T ENST00000503581.1 - 11 2207 c.1670G>A c.(1669-1671)aGa>aAa p.R557K EYS_ENST00000393380.2_Missense_Mutation_p.R557K|EYS_ENST00000342421.5_Missense_Mutation_p.R557K|EYS_ENST00000370616.2_Missense_Mutation_p.R557K|EYS_ENST00000370618.3_Missense_Mutation_p.R557K|EYS_ENST00000370621.3_Missense_Mutation_p.R557K NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 557 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GCCAGCCCATCTGAGAAAACA 0.353000 24 38 0 0 0.003954 0 0 SPERT 220082 broad.mit.edu 37 13 46287917 46287917 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:46287917G>A ENST00000378966.3 + 2 1065 c.649G>A c.(649-651)Gag>Aag p.E217K SPERT_ENST00000310521.1_Missense_Mutation_p.E253K Q8NA61 SPERT_HUMAN spermatid associated 253 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCTCCGGGAGGAGAATCGCGC 0.682000 5 10 0 0 0.000602 0 0 IGLV4-60 28785 broad.mit.edu 37 22 22517004 22517004 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:22517004C>T ENST00000390284.2 + 0 292 TGACCGCTACCTCACCATCTC 0.532000 5 22 0 0 0.001984 0 0 SLC5A7 60482 broad.mit.edu 37 2 108618400 108618400 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:108618400C>T ENST00000264047.2 + 6 921 c.645C>T c.(643-645)atC>atT p.I215I SLC5A7_ENST00000409059.1_Silent_p.I215I|SLC5A7_ENST00000540517.1_Silent_p.I110I NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 215 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.I215I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TCGCAGACATCGGGTTCACTG 0.488000 14 56 0 0 0.004990 0 0 OR56B4 196335 broad.mit.edu 37 11 6129062 6129062 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:6129062C>T ENST00000316529.3 + 1 149 c.54C>T c.(52-54)ttC>ttT p.F18F NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCCCAGTTCATCCTGATGG 0.507000 27 50 0 0 0.005443 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699398 17699398 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:17699398A>T ENST00000399080.2 - 1 308 c.285T>A c.(283-285)agT>agA p.S95R NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 95 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCTGCTTCCCACTGACTGATT 0.448000 41 55 0 0 0.008740 0 0 SMARCA4 6597 broad.mit.edu 37 19 11097073 11097073 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:11097073G>A ENST00000358026.2 + 4 848 c.564G>A c.(562-564)aaG>aaA p.K188K SMARCA4_ENST00000450717.3_Silent_p.K188K|SMARCA4_ENST00000429416.3_Silent_p.K188K|SMARCA4_ENST00000444061.3_Silent_p.K188K|SMARCA4_ENST00000344626.4_Silent_p.K188K|SMARCA4_ENST00000413806.3_Silent_p.K188K|SMARCA4_ENST00000541122.2_Silent_p.K188K|SMARCA4_ENST00000590574.1_Silent_p.K188K|SMARCA4_ENST00000589677.1_Silent_p.K188K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 188 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGGCCTACAAGATGCTGGCCA 0.652000 """F, N, Mis""" NSCLC 3 10 0 0 0.004672 0 0 ZNF486 90649 broad.mit.edu 37 19 20308159 20308159 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:20308159G>A ENST00000335117.8 + 4 697 c.640G>A c.(640-642)Gaa>Aaa p.E214K CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 214 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 CAAATGTGAAGAATGTGGCAA 0.373000 12 24 0 0 0.001855 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142119848 142119848 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:142119848C>T ENST00000390377.1 - 0 318 CGATACATGGCTGAGTCCCGC 0.562000 26 44 0 0 0.007291 0 0 AXIN1 8312 broad.mit.edu 37 16 396431 396431 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:396431G>A ENST00000262320.3 - 2 966 c.595C>T c.(595-597)Ccc>Tcc p.P199S AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.P199S NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 199 RGS. 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) AGGAAGGAGGGATAGGTGTTT 0.507000 OREG0003698 type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 38 34 0 0 0.006230 0 0 BAGE2 85319 broad.mit.edu 37 21 11039314 11039314 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:11039314C>T ENST00000470054.1 - 0 889 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) TGTTTTCTGTCACTTCCATTT 0.368000 15 318 0 0 0.001523 0 0 KLHL7 55975 broad.mit.edu 37 7 23164672 23164672 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:23164672C>T ENST00000322231.7 + 5 747 c.257C>T c.(256-258)tCc>tTc p.S86F KLHL7_ENST00000539124.1_Missense_Mutation_p.S32F|KLHL7_ENST00000322275.5_Missense_Mutation_p.S108F|KLHL7_ENST00000545771.1_Missense_Mutation_p.S86F|KLHL7_ENST00000409689.1_Missense_Mutation_p.S60F|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.S108F|KLHL7_ENST00000545443.1_Missense_Mutation_p.S86F|KLHL7_ENST00000410047.1_Missense_Mutation_p.S86F|KLHL7_ENST00000542558.1_Intron Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 108 BTB. Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGCAGAATTTCCGTGAATAGC 0.323000 20 31 0 0 0.001523 0 0 EVPL 2125 broad.mit.edu 37 17 74003610 74003610 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:74003610G>A ENST00000301607.3 - 22 5929 c.5676C>T c.(5674-5676)tcC>tcT p.S1892S EVPL_ENST00000586740.1_Silent_p.S1914S NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1892 Globular 2. 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 GCCTCTGTGTGGAGGTGTTCT 0.652000 33 71 0 0 0.002836 0 0 GABRG1 2565 broad.mit.edu 37 4 46067417 46067417 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:46067417C>T ENST00000295452.4 - 4 673 c.506G>A c.(505-507)cGa>cAa p.R169Q NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 169 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) ATTCCAAATTCGAAGCAGACG 0.323000 27 47 0 0 0.008361 0 0 ZNF668 79759 broad.mit.edu 37 16 31075148 31075148 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:31075148G>A ENST00000538906.1 - 2 1417 c.633C>T c.(631-633)ctC>ctT p.L211L ZNF668_ENST00000535577.1_Silent_p.L211L|ZNF668_ENST00000426488.2_Silent_p.L234L|ZNF668_ENST00000300849.4_Silent_p.L211L|ZNF668_ENST00000539836.3_Silent_p.L234L|ZNF668_ENST00000394983.2_Silent_p.L211L NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CATGGTTGCGGAGGTCCTTGA 0.662000 5 8 0 0 0.000602 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033111 52033111 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:52033111C>T ENST00000346477.3 - 4 899 c.831G>A c.(829-831)ctG>ctA p.L277L SIGLEC6_ENST00000391797.3_Silent_p.L282L|SIGLEC6_ENST00000343300.4_Silent_p.L293L|SIGLEC6_ENST00000359982.4_Silent_p.L304L|SIGLEC6_ENST00000425629.3_Silent_p.L293L|SIGLEC6_ENST00000436458.1_Silent_p.L241L NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 293 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) GGGTGGCGTTCAGGGCGGGGA 0.642000 30 79 0 0 0.003271 0 0 LNP1 348801 broad.mit.edu 37 3 100170717 100170717 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:100170717C>T ENST00000383693.3 + 3 1591 c.311C>T c.(310-312)tCc>tTc p.S104F LNP1_ENST00000489752.1_Missense_Mutation_p.S117F NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 104 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 AAAGGAAGATCCCATTCCAAA 0.433000 5 54 0 0 0.001168 0 0 ABT1 29777 broad.mit.edu 37 6 26598588 26598588 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:26598588C>T ENST00000274849.1 + 3 565 c.534C>T c.(532-534)gcC>gcT p.A178A NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 178 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 TTGCTCAAGCCAAGCGTGAGA 0.602000 33 41 0 0 0.001786 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895461 42895461 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:42895461G>A ENST00000399770.2 + 1 178 c.178G>A c.(178-180)Gga>Aga p.G60R NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 60 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 TGATTCCGATGGACAGCAGAA 0.498000 69 150 0 0 0.003610 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21548835 21548835 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:21548835C>T ENST00000298694.4 + 12 2517 c.2390C>T c.(2389-2391)tCg>tTg p.S797L ARHGEF40_ENST00000298693.3_Missense_Mutation_p.S797L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 797 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CAGTGGCTCTCGGGCCCAGGG 0.632000 15 30 0 0 0.004007 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934887 9934887 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:9934887G>A ENST00000396573.2 - 7 1712 c.1403C>T c.(1402-1404)tCc>tTc p.S468F GRIN2A_ENST00000330684.3_Missense_Mutation_p.S468F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S468F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S468F|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S311F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S468F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 468 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) CACAGTTCTGGAAAGCTTCTT 0.418000 20 47 0 0 0.008871 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542818 133542818 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:133542818C>T ENST00000409261.1 - 14 1939 c.1566G>A c.(1564-1566)ctG>ctA p.L522L NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.L522L|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 522 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 ATGTGCCTTCCAGAAAGTGTT 0.498000 65 78 0 0 0.003610 0 0 C10orf118 55088 broad.mit.edu 37 10 115895958 115895958 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:115895958G>A ENST00000369287.3 - 8 1640 c.1374C>T c.(1372-1374)gtC>gtT p.V458V C10orf118_ENST00000543782.1_Silent_p.V56V NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 458 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) CTCCTTTTGTGACTCTAAGCT 0.328000 11 50 0 0 0.001855 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572455 140572455 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140572455G>A ENST00000239446.4 + 1 514 c.330G>A c.(328-330)atG>atA p.M110I NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 110 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATTTTAATGGATGATCCCT 0.428000 8 33 0 0 0.008291 0 0 AE000661.37 0 broad.mit.edu 37 14 22925724 22925724 + RNA SNP C C T rs139871530 by1000genomes TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:22925724C>T ENST00000514473.2 - 0 225 TRDJ2_ENST00000390475.1_RNA CACAACTCATCGTGGAACCAG 0.433000 92 153 0 0 0.003610 0 0 MEI1 150365 broad.mit.edu 37 22 42191744 42191744 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:42191744G>A ENST00000401548.3 + 30 3712 c.3672G>A c.(3670-3672)caG>caA p.Q1224Q MEI1_ENST00000400107.1_Silent_p.Q557Q|MEI1_ENST00000300398.4_Silent_p.Q188Q|MEI1_ENST00000476893.1_3'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 1224 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGCAGCTCCAGAGCATGGGAC 0.642000 13 29 0 0 0.001855 0 0 ADORA1 134 broad.mit.edu 37 1 203134560 203134560 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:203134560C>T ENST00000367236.4 + 3 1434 c.513C>T c.(511-513)ttC>ttT p.F171F ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.F171F|ADORA1_ENST00000309502.3_Silent_p.F171F|ADORA1_ENST00000472535.1_3'UTR NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 171 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) AGTGCGAGTTCGAGAAGGTCA 0.572000 20 24 0 0 0.008871 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74649224 74649224 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:74649224A>C ENST00000354431.4 - 2 336 c.145T>G c.(145-147)Tgc>Ggc p.C49G LRRIQ3_ENST00000370909.2_Missense_Mutation_p.C49G|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.C49G|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.C49G NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 49 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 agagagatgcaagactgcaaa 0.303000 21 32 0 0 0.008871 0 0 RASSF9 9182 broad.mit.edu 37 12 86199585 86199585 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:86199585C>T ENST00000361228.3 - 2 571 c.203G>A c.(202-204)cGa>cAa p.R68Q NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 68 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGAAGAAATCGTTTCTCTCC 0.483000 28 79 0 0 0.001786 0 0 MAEA 10296 broad.mit.edu 37 4 1305894 1305894 + Missense_Mutation SNP C C T rs112596236 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:1305894C>T ENST00000303400.4 + 2 260 c.197C>T c.(196-198)tCc>tTc p.S66F MAEA_ENST00000264750.6_Missense_Mutation_p.S66F|MAEA_ENST00000452175.2_Missense_Mutation_p.S55F|MAEA_ENST00000505839.1_Missense_Mutation_p.S18F|MAEA_ENST00000505177.2_Missense_Mutation_p.S66F|MAEA_ENST00000510794.1_Missense_Mutation_p.S65F|MAEA_ENST00000514708.1_Missense_Mutation_p.S66F NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 66 Extracellular and involved in cell to cell contact. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) GCCGTGGACTCCGTGGTCAGC 0.647000 18 30 0 0 0.008871 0 0 SNRNP48 154007 broad.mit.edu 37 6 7602873 7602873 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:7602873C>T ENST00000342415.5 + 6 672 c.613C>T c.(613-615)Cca>Tca p.P205S NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 205 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TCGAAAAAGTCCAAAATCCTA 0.303000 15 31 0 0 0.004007 0 0 ASXL1 171023 broad.mit.edu 37 20 31024661 31024661 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:31024661C>T ENST00000375687.4 + 13 4570 c.4146C>T c.(4144-4146)gcC>gcT p.A1382A ASXL1_ENST00000306058.5_Silent_p.A1377A NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1382 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AGGCAAATGCCGAGAACAGGA 0.527000 """F, N, Mis""" """MDS, CMML""" 34 78 0 0 0.002836 0 0 CDH24 64403 broad.mit.edu 37 14 23524545 23524545 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:23524545G>A ENST00000397359.3 - 3 478 c.219C>T c.(217-219)gaC>gaT p.D73D CDH24_ENST00000554034.1_Silent_p.D73D|CDH24_ENST00000487137.2_Silent_p.D73D|CDH24_ENST00000267383.5_Silent_p.D73D NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 73 Cadherin 1. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCTCTCCCCGGTCAACATCCG 0.557000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 34 0 0 0.004007 0 0 SMARCD2 6603 broad.mit.edu 37 17 61910990 61910990 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:61910990G>A ENST00000448276.2 - 10 1539 c.1274C>T c.(1273-1275)gCc>gTc p.A425V SMARCD2_ENST00000225742.9_Missense_Mutation_p.A350V|SMARCD2_ENST00000323347.10_Missense_Mutation_p.A377V NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 425 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 GGTGGTAGAGGCCAGAAAATT 0.587000 45 69 0 0 0.002522 0 0 AP1M2 10053 broad.mit.edu 37 19 10685607 10685607 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:10685607G>A ENST00000590923.1 - 10 1235 c.1152C>T c.(1150-1152)atC>atT p.I384I AP1M2_ENST00000250244.6_Silent_p.I382I Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 382 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) TGAAGTAGGGGATCTCAAACT 0.612000 10 9 0 0 0.006214 0 0 DNAH2 146754 broad.mit.edu 37 17 7710628 7710628 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:7710628G>A ENST00000572933.1 + 62 11063 c.9603G>A c.(9601-9603)cgG>cgA p.R3201R DNAH2_ENST00000389173.2_Silent_p.R3201R Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3201 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGTGGGTGCGGGCCATGGAGG 0.657000 43 33 0 0 0.003214 0 0 THEMIS 387357 broad.mit.edu 37 6 128150657 128150657 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:128150657G>A ENST00000368250.1 - 4 934 c.436C>T c.(436-438)Ctc>Ttc p.L146F THEMIS_ENST00000543064.1_Missense_Mutation_p.L225F|THEMIS_ENST00000537166.1_Missense_Mutation_p.L190F|THEMIS_ENST00000368248.2_Missense_Mutation_p.L225F Q8N1K5 THMS1_HUMAN thymocyte selection associated 225 CABIT 1. 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 ACAGGCTTGAGAATCAGGGTA 0.368000 23 53 0 0 0.003954 0 0 C6orf165 154313 broad.mit.edu 37 6 88123562 88123562 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:88123562C>T ENST00000507897.1 + 4 310 c.227C>T c.(226-228)cCa>cTa p.P76L C6ORF165_ENST00000369562.4_Missense_Mutation_p.P76L Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 76 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ACTAAAAATCCATCCCTGGAC 0.318000 20 55 0 0 0.002780 0 0 KIF21B 23046 broad.mit.edu 37 1 200969865 200969865 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:200969865G>A ENST00000332129.2 - 10 1762 c.1446C>T c.(1444-1446)atC>atT p.I482I KIF21B_ENST00000360529.5_Silent_p.I482I|KIF21B_ENST00000422435.2_Silent_p.I482I|KIF21B_ENST00000461742.2_Silent_p.I482I 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 482 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 CGATCTCCCGGATGTAGTTCT 0.632000 23 44 0 0 0.002780 0 0 THEMIS 387357 broad.mit.edu 37 6 128176199 128176199 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:128176199A>G ENST00000543064.1 - 2 374 c.226T>C c.(226-228)Ttt>Ctt p.F76L THEMIS_ENST00000537166.1_Missense_Mutation_p.F41L|THEMIS_ENST00000368248.2_Missense_Mutation_p.F76L|THEMIS_ENST00000368250.1_5'UTR NM_001164685.1 NP_001158157.1 Q8N1K5 THMS1_HUMAN thymocyte selection associated 76 CABIT 1. 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 GGCAGTTCAAATGGCTGTAGA 0.328000 14 33 0 0 0.003163 0 0 NCOA6 23054 broad.mit.edu 37 20 33356387 33356387 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:33356387C>T ENST00000374796.2 - 6 2964 c.394G>A c.(394-396)Gaa>Aaa p.E132K NCOA6_ENST00000359003.2_Missense_Mutation_p.E132K Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 132 CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATAGCACCTTCCCCTGAAAAT 0.393000 28 75 0 0 0.008361 0 0 ITK 3702 broad.mit.edu 37 5 156635902 156635902 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:156635902G>A ENST00000422843.3 + 2 293 c.141G>A c.(139-141)aaG>aaA p.K47K CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 47 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCCCACAGAAGAAGCGCACGC 0.433000 T SYK peripheral T-cell lymphoma 67 111 0 0 0.003610 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818882 159818882 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:159818882G>A ENST00000497452.1 - 0 517 gggagaaaacggagaagagtt 0.458000 91 146 0 0 0.003610 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685807 108685807 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:108685807C>T ENST00000312143.7 - 3 1296 c.933G>A c.(931-933)atG>atA p.M311I CMKLR1_ENST00000397688.2_Missense_Mutation_p.M309I|CMKLR1_ENST00000550402.1_Missense_Mutation_p.M311I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M309I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.M311I NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 311 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GAATGGGGTTCATGCAGCTGT 0.542000 12 61 0 0 0.001855 0 0 ITGB3 3690 broad.mit.edu 37 17 45361894 45361894 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:45361894C>T ENST00000560629.1 + 4 412 c.412C>T c.(412-414)Cat>Tat p.H138Y ITGB3_ENST00000571680.1_Silent_p.S149S|ITGB3_ENST00000559488.1_Silent_p.S149S|ITGB3_ENST00000435993.2_Silent_p.S102S P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) TGTCTTACTCCATGAAGGATG 0.517000 24 81 0 0 0.003330 0 0 WDR36 134430 broad.mit.edu 37 5 110428012 110428012 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:110428012G>A ENST00000506538.2 + 1 599 c.26G>A c.(25-27)cGg>cAg p.R9Q WDR36_ENST00000513710.2_Missense_Mutation_p.R9Q NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 9 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GGCAGTCTCCGGAAACGCGAT 0.587000 51 47 0 0 0.003610 0 0 NOVA1 4857 broad.mit.edu 37 14 26917426 26917426 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:26917426C>T ENST00000539517.2 - 5 1580 c.1263G>A c.(1261-1263)aaG>aaA p.K421K NOVA1_ENST00000465357.2_Silent_p.K397K|NOVA1_ENST00000267422.7_Silent_p.K299K NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 424 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CAACTACATCCTTGGATCCAT 0.468000 19 47 0 0 0.001523 0 0 FMN2 56776 broad.mit.edu 37 1 240370838 240370838 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:240370838C>T ENST00000319653.9 + 5 2956 c.2726C>T c.(2725-2727)cCa>cTa p.P909L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 909 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) GAAATGCTGCCACCCCCTCCC 0.657000 18 40 0 0 0.008871 0 0 DSCAM 1826 broad.mit.edu 37 21 41414529 41414529 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:41414529C>T ENST00000400454.1 - 32 5932 c.5455G>A c.(5455-5457)Gaa>Aaa p.E1819K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1819 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTGGCGTGTTCGTAGGCCCTG 0.527000 31 23 0 0 0.007291 0 0 MGAM 8972 broad.mit.edu 37 7 141794620 141794620 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:141794620C>T ENST00000475668.2 + 63 7469 c.7415C>T c.(7414-7416)gCc>gTc p.A2472V MGAM_ENST00000549489.2_Missense_Mutation_p.A1576V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1576 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) CAGCTGGGGGCCTTTTACCCC 0.493000 21 45 0 0 0.003330 0 0 ITK 3702 broad.mit.edu 37 5 156636002 156636002 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:156636002C>T ENST00000422843.3 + 2 393 c.241C>T c.(241-243)Cag>Tag p.Q81* CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 81 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATACCCGTTTCAGGTAAGTCC 0.493000 T SYK peripheral T-cell lymphoma 85 97 0 0 0.003610 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47233948 47233948 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:47233948G>A ENST00000300404.2 + 5 720 c.661G>A c.(661-663)Gat>Aat p.D221N B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 221 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TGAAGGACCCGATGCCCCCGT 0.562000 35 70 0 0 0.002852 0 0 RP1 6101 broad.mit.edu 37 8 55533846 55533846 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:55533846C>T ENST00000220676.1 + 2 468 c.320C>T c.(319-321)tCc>tTc p.S107F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 107 Doublecortin 1. 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) TACCTATGTTCCCACGGCAGG 0.677000 28 53 0 0 0.001786 0 0 UGP2 7360 broad.mit.edu 37 2 64118353 64118353 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:64118353G>A ENST00000337130.5 + 10 1995 c.1519G>A c.(1519-1521)Gac>Aac p.D507N UGP2_ENST00000394417.2_Missense_Mutation_p.D496N|UGP2_ENST00000445915.2_Missense_Mutation_p.D516N|UGP2_ENST00000467648.2_Missense_Mutation_p.D496N NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 507 Oligomerization (By similarity). glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 TCGCATCTTGGACCACTGAAA 0.383000 14 26 0 0 0.001855 0 0 PGR 5241 broad.mit.edu 37 11 100999728 100999728 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:100999728G>A ENST00000325455.5 - 1 1527 c.74C>T c.(73-75)tCc>tTc p.S25F PGR_ENST00000263463.5_Missense_Mutation_p.S25F|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 25 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CAGCAGTGGGGATCCGACCTC 0.672000 14 5 0 0 0.001855 0 0 PCGF2 7703 broad.mit.edu 37 17 36896591 36896591 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:36896591C>T ENST00000580830.1 - 4 766 c.65G>A c.(64-66)gGg>gAg p.G22E PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E P35227 PCGF2_HUMAN polycomb group ring finger 2 22 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) GAAGTACCCCCCGCAGAGGGC 0.622000 32 88 0 0 0.005524 0 0 OSCAR 126014 broad.mit.edu 37 19 54598537 54598537 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:54598537G>A ENST00000358375.4 - 5 786 c.741C>T c.(739-741)gtC>gtT p.V247V OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000356532.3_Silent_p.V251V|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000351806.4_Silent_p.V236V NM_133169.3 NP_573399.1 Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 0 extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) AGTCAAAAGTGACCAGCGCGC 0.682000 9 13 0 0 0.008291 0 0 SYCP2L 221711 broad.mit.edu 37 6 10930683 10930683 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:10930683G>A ENST00000283141.6 + 19 1865 c.1569G>A c.(1567-1569)caG>caA p.Q523Q NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 523 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) CCAGTAACCAGAAAAAGAAAT 0.348000 24 32 0 0 0.003330 0 0 ISX 91464 broad.mit.edu 37 22 35463124 35463124 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:35463124G>A ENST00000308700.6 + 1 996 c.44G>A c.(43-45)aGa>aAa p.R15K ISX_ENST00000404699.2_Missense_Mutation_p.R15K|RP1-272J12.1_ENST00000448318.4_RNA NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 15 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 GGTATGGAGAGAAATAGCTTG 0.592000 10 25 0 0 0.008291 0 0 DNAH8 1769 broad.mit.edu 37 6 38702293 38702293 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:38702293G>A ENST00000449981.2 + 5 763 c.654G>A c.(652-654)atG>atA p.M218I DNAH8_ENST00000359357.3_Start_Codon_SNP_p.M1I|DNAH8_ENST00000441566.1_Start_Codon_SNP_p.M1I 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 GGGCAAAAATGATGAAATTGT 0.343000 50 91 0 0 0.003610 0 0 PLS3 5358 broad.mit.edu 37 X 114864164 114864164 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:114864164T>A ENST00000420625.2 + 5 519 c.385T>A c.(385-387)Ttt>Att p.F129I PLS3_ENST00000537301.1_Missense_Mutation_p.F107I|PLS3_ENST00000539310.1_Missense_Mutation_p.F84I|PLS3_ENST00000355899.3_Missense_Mutation_p.F129I|PLS3_ENST00000289290.3_Missense_Mutation_p.F84I NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 129 Actin-binding 1.|CH 1. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 AAAATATGCTTTTGTTAACTG 0.318000 77 32 0 0 0.003610 0 0 ZNF574 64763 broad.mit.edu 37 19 42584105 42584105 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:42584105G>A ENST00000600245.1 + 2 2002 c.1347G>A c.(1345-1347)gaG>gaA p.E449E ZNF574_ENST00000222339.7_Silent_p.E539E|ZNF574_ENST00000359044.4_Silent_p.E449E|CTB-59C6.3_ENST00000594531.1_RNA Q6ZN55 ZN574_HUMAN zinc finger protein 574 449 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) AGGCCCCTGAGCCCCCTGTGT 0.647000 22 55 0 0 0.002299 0 0 KIF26B 55083 broad.mit.edu 37 1 245530178 245530178 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:245530178C>T ENST00000407071.2 + 3 948 c.508C>T c.(508-510)Ccc>Tcc p.P170S KIF26B_ENST00000479506.1_3'UTR NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 170 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) ACTCCAGGTCCCCAACACCAT 0.547000 9 20 0 0 0.006214 0 0 IGLV3-9 28804 broad.mit.edu 37 22 23162186 23162186 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:23162186C>T ENST00000390316.2 + 0 394 CCCTGACCATCAGCAGAGCCC 0.572000 16 36 0 0 0.003163 0 0 TDRKH 11022 broad.mit.edu 37 1 151755386 151755386 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:151755386C>T ENST00000368822.1 - 2 746 c.113G>A c.(112-114)aGg>aAg p.R38K TDRKH_ENST00000368824.3_Missense_Mutation_p.R38K|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.R38K|TDRKH_ENST00000368827.6_Missense_Mutation_p.R38K|TDRKH_ENST00000368823.1_Missense_Mutation_p.R38K|TDRKH_ENST00000368825.3_Missense_Mutation_p.R38K Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 38 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCTGCTTTCCCTATACCTGCG 0.473000 82 114 0 0 0.003610 0 0 LRP1B 53353 broad.mit.edu 37 2 141607744 141607744 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:141607744C>T ENST00000389484.3 - 29 5837 c.4866G>A c.(4864-4866)tgG>tgA p.W1622* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1622 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) TAATATCTGTCCAGTATAAAC 0.353000 TSP Lung(27;0.18) 17 65 0 0 0.007413 0 0 ZNF441 126068 broad.mit.edu 37 19 11892195 11892195 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:11892195G>A ENST00000357901.4 + 4 1658 c.1556G>A c.(1555-1557)cGa>cAa p.R519Q ZNF441_ENST00000454339.2_Missense_Mutation_p.R452Q NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGTTCATTTCGAAGACATGAA 0.403000 14 18 0 0 0.003163 0 0 LCMT1 51451 broad.mit.edu 37 16 25182046 25182046 + Silent SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:25182046C>A ENST00000399069.3 + 9 959 c.804C>A c.(802-804)ctC>ctA p.L268L LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.L213L NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 268 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) AAGAACGGCTCCTGTCGAATG 0.478000 43 56 2.24722e-20 2.51497e-20 0.003610 1 0 PAX7 5081 broad.mit.edu 37 1 19029590 19029590 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:19029590G>A ENST00000420770.2 + 7 1038 c.955G>A c.(955-957)Ggg>Agg p.G319R PAX7_ENST00000375375.3_Missense_Mutation_p.G319R|PAX7_ENST00000400661.3_Missense_Mutation_p.G317R NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 319 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CTCTACAGATGGGGGCAGCAC 0.657000 T FOXO1A alveolar rhabdomyosarcoma 7 30 0 0 0.004482 0 0 MMP24 10893 broad.mit.edu 37 20 33834663 33834663 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:33834663C>T ENST00000246186.6 + 2 352 c.267C>T c.(265-267)ggC>ggT p.G89G EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 89 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) AGTCCTATGGCTATCTGCTTC 0.522000 44 75 0 0 0.003214 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113866 117113866 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:117113866G>A ENST00000310357.3 - 6 2241 c.2220C>T c.(2218-2220)atC>atT p.I740I GPRC6A_ENST00000530250.1_Silent_p.I565I|GPRC6A_ENST00000368549.3_Silent_p.I669I NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 740 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACTCCAGGATGATGACTCTGG 0.483000 16 22 0 0 0.004007 0 0 ADAM28 10863 broad.mit.edu 37 8 24196978 24196978 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:24196978G>A ENST00000265769.4 + 15 1677 c.e15-1 RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 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) CCTGGTCCCAGGAACTGAGGT 0.418000 7 13 0 0 0.003080 0 0 CACNA1E 777 broad.mit.edu 37 1 181767591 181767591 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:181767591G>A ENST00000526775.1 + 46 6542 c.6377G>A c.(6376-6378)gGa>gAa p.G2126E CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2077E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2188E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1752E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2139E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2145E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2169E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2188 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 CCTGCTGATGGAAGCGAGGAG 0.637000 32 57 0 0 0.002096 0 0 RNF152 220441 broad.mit.edu 37 18 59483237 59483237 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:59483237C>T ENST00000312828.3 - 2 1559 c.460G>A c.(460-462)Gag>Aag p.E154K NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 154 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) CTGTCCTGCTCCTCCTCCACC 0.652000 30 29 0 0 0.008361 0 0 CELSR1 9620 broad.mit.edu 37 22 46776758 46776758 + Silent SNP G G A rs142315389 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:46776758G>A ENST00000262738.3 - 22 7182 c.7183C>T c.(7183-7185)Ctg>Ttg p.L2395L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2395 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 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) AACTCCACCAGGACGGGCCTC 0.642000 17 47 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9048058 9048058 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9048058C>T ENST00000397910.4 - 5 33776 c.33573G>A c.(33571-33573)atG>atA p.M11191I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11193 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 TGGCTGAAATCATCTTTGCCT 0.453000 20 22 0 0 0.007413 0 0 NAV1 89796 broad.mit.edu 37 1 201777203 201777203 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:201777203G>A ENST00000367296.4 + 18 4191 c.3771G>A c.(3769-3771)caG>caA p.Q1257Q NAV1_ENST00000367300.3_Silent_p.Q1197Q|NAV1_ENST00000367297.4_Silent_p.Q1249Q|NAV1_ENST00000367295.1_Silent_p.Q863Q|NAV1_ENST00000295624.6_Silent_p.Q1254Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.Q1210Q NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1257 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 CCAAACTACAGCATGGTTCTA 0.537000 30 74 0 0 0.002096 0 0 MYH1 4619 broad.mit.edu 37 17 10399338 10399338 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10399338C>T ENST00000226207.5 - 35 5192 c.5098G>A c.(5098-5100)Gag>Aag p.E1700K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1700 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 CTGCTCCTCTCTGTCTGTTCC 0.557000 23 20 0 0 0.003330 0 0 CD93 22918 broad.mit.edu 37 20 23064979 23064979 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:23064979C>T ENST00000246006.4 - 1 1998 c.1851G>A c.(1849-1851)aaG>aaA p.K617K NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 617 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) GCTTCTTCTCCTTCTTCTCCT 0.597000 57 111 0 0 0.003610 0 0 DSG1 1828 broad.mit.edu 37 18 28916386 28916386 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:28916386C>T ENST00000257192.4 + 9 1287 c.1075C>T c.(1075-1077)Cat>Tat p.H359Y NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 359 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGAATTTCATCATTCAATTAT 0.343000 9 28 0 0 0.004482 0 0 PAPPA2 60676 broad.mit.edu 37 1 176809389 176809389 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:176809389C>T ENST00000367662.3 + 22 6447 c.5283C>T c.(5281-5283)tcC>tcT p.S1761S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1761 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 GCTGCTCTTCCACACTCTCCT 0.547000 41 59 0 0 0.002222 0 0 ATP7B 540 broad.mit.edu 37 13 52523879 52523879 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:52523879G>A ENST00000242839.4 - 12 2940 c.2784C>T c.(2782-2784)atC>atT p.I928I ATP7B_ENST00000448424.2_Silent_p.I850I|ATP7B_ENST00000400366.3_Silent_p.I817I|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000417240.2_Silent_p.I200I|ATP7B_ENST00000418097.2_Silent_p.I928I|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Silent_p.I498I NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 928 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) ACATGATGATGATAAATGGGA 0.403000 Wilson disease 30 69 0 0 0.003271 0 0 LMTK2 22853 broad.mit.edu 37 7 97822775 97822775 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:97822775C>T ENST00000297293.5 + 11 3291 c.2998C>T c.(2998-3000)Ctg>Ttg p.L1000L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1000 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCCGGACTCTCTGGAGTCAGT 0.597000 75 87 0 0 0.003610 0 0 KIAA1549 57670 broad.mit.edu 37 7 138596028 138596028 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:138596028G>A ENST00000440172.1 - 4 3057 c.3009C>T c.(3007-3009)tcC>tcT p.S1003S KIAA1549_ENST00000422774.1_Silent_p.S1003S|KIAA1549_ENST00000242365.4_Silent_p.S953S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1003 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CGAAAGGACCGGATGTTACCA 0.373000 O BRAF pilocytic astrocytoma 8 8 0 0 0.006214 0 0 USP10 9100 broad.mit.edu 37 16 84778852 84778852 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:84778852C>T ENST00000219473.7 + 4 878 c.765C>T c.(763-765)ttC>ttT p.F255F USP10_ENST00000570191.1_Silent_p.F259F NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 255 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 AGTCCTGCTTCCCTGCAGAGG 0.597000 10 10 0 0 0.008291 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375885 93375885 + Silent SNP G G A rs139132864 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:93375885G>A ENST00000375765.3 - 2 613 c.225C>T c.(223-225)tcC>tcT p.S75S NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 75 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CTTTGGAGATGGACAGCCGCT 0.557000 35 34 0 0 0.003271 0 0 MUC15 143662 broad.mit.edu 37 11 26582728 26582728 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:26582728C>T ENST00000436318.2 - 4 1103 c.970G>A c.(970-972)Ggg>Agg p.G324R MUC15_ENST00000529533.1_Missense_Mutation_p.G324R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G274R|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G297R|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G274R Q8N387 MUC15_HUMAN mucin 15, cell surface associated 297 extracellular region|integral to membrane|plasma membrane p.G297R(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 CTAGAATTCCCAAAACTCACA 0.378000 9 29 0 0 0.006214 0 0 GPC5 2262 broad.mit.edu 37 13 92101140 92101140 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:92101140A>G ENST00000377067.3 + 2 661 c.289A>G c.(289-291)Aag>Gag p.K97E NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 97 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CTCTACATTAAAGTTTCTAAT 0.428000 28 47 0 0 0.007291 0 0 PRDM7 11105 broad.mit.edu 37 16 90124943 90124943 + Splice_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:90124943C>T ENST00000407825.1 - 9 970 c.e9-1 PRDM7_ENST00000449207.2_Splice_Site|PRDM7_ENST00000325921.6_Splice_Site Q9NQW5 PRDM7_HUMAN PR domain containing 7 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) GGCTTTGGTTCTGAAAGAGGA 0.408000 20 95 0 0 0.003954 0 0 TENM1 10178 broad.mit.edu 37 X 123654622 123654622 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:123654622C>T ENST00000422452.2 - 18 3109 c.3046G>A c.(3046-3048)Gaa>Aaa p.E1016K TENM1_ENST00000371130.3_Missense_Mutation_p.E1016K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATGGGAATTTCCTCCTGTACA 0.443000 18 9 0 0 0.006122 0 0 ABCG5 64240 broad.mit.edu 37 2 44041707 44041707 + Silent SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:44041707A>T ENST00000543989.1 - 8 2191 c.486T>A c.(484-486)atT>atA p.I162I ABCG5_ENST00000405322.1_Silent_p.I386I|ABCG5_ENST00000260645.1_Silent_p.I557I Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 557 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTTAAAAGGAATGGGCATTT 0.318000 47 228 0 0 0.003214 0 0 POT1 25913 broad.mit.edu 37 7 124481086 124481086 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:124481086T>G ENST00000357628.3 - 14 1908 c.1310A>C c.(1309-1311)cAt>cCt p.H437P POT1_ENST00000393329.1_Missense_Mutation_p.H306P NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 437 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TTTCACAAAATGAACTGCTAC 0.318000 31 72 0 0 0.002096 0 0 SOGA1 140710 broad.mit.edu 37 20 35422871 35422871 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:35422871C>T ENST00000237536.4 - 14 3955 c.3614G>A c.(3613-3615)gGg>gAg p.G1205E SOGA1_ENST00000279034.5_Missense_Mutation_p.G967E|SOGA1_ENST00000456801.2_Missense_Mutation_p.G808E|SOGA1_ENST00000357779.3_Missense_Mutation_p.G967E NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 967 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CTCTGGATCCCCTGGCTCGGA 0.617000 29 55 0 0 0.006320 0 0 DNAH3 55567 broad.mit.edu 37 16 20974678 20974678 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:20974678C>T ENST00000261383.3 - 53 10527 c.10528G>A c.(10528-10530)Gga>Aga p.G3510R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3510 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTGTAGGATCCCTGGAGATCG 0.507000 30 22 0 0 0.007291 0 0 SPEG 10290 broad.mit.edu 37 2 220338616 220338616 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:220338616G>A ENST00000312358.7 + 18 4570 c.4438G>A c.(4438-4440)Gag>Aag p.E1480K SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1480 Ig-like 7. 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) GGTCACATTGGAGCTGGCAGG 0.637000 7 54 0 0 0.001984 0 0 ABCA4 24 broad.mit.edu 37 1 94471033 94471033 + Silent SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:94471033G>T ENST00000370225.3 - 44 6197 c.6111C>A c.(6109-6111)gcC>gcA p.A2037A ABCA4_ENST00000535881.1_Silent_p.A156A|ABCA4_ENST00000536513.1_Silent_p.A307A|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2037 ABC transporter 2. 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) CTCGAAGCCGGGCATAAAGGT 0.418000 22 63 7.88262e-20 8.81917e-20 0.003330 1 0 ZNF471 57573 broad.mit.edu 37 19 57029918 57029918 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:57029918G>A ENST00000308031.5 + 4 361 c.228G>A c.(226-228)acG>acA p.T76T ZNF471_ENST00000591537.1_Silent_p.T76T|ZNF471_ENST00000593197.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GGGAGATGACGAGTGAGATGA 0.418000 15 26 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9066175 9066175 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9066175C>T ENST00000397910.4 - 3 21474 c.21271G>A c.(21271-21273)Gaa>Aaa p.E7091K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7093 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 CTGGGATTTTCCAGAGAGGGA 0.502000 21 42 0 0 0.001523 0 0 INADL 10207 broad.mit.edu 37 1 62349916 62349916 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:62349916C>T ENST00000371158.2 + 22 3081 c.2967C>T c.(2965-2967)atC>atT p.I989I INADL_ENST00000316485.6_Silent_p.I989I NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 989 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CAGGCATGATCCCGAATGATG 0.473000 49 70 0 0 0.003610 0 0 NKX6-1 4825 broad.mit.edu 37 4 85416951 85416951 + Silent SNP C C T rs111718959 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:85416951C>T ENST00000295886.4 - 2 938 c.717G>A c.(715-717)acG>acA p.T239T NKX6-1_ENST00000515820.2_5'UTR NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 239 Repressor domain (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) AAGTGGGTCTCGTGTGTTTTC 0.488000 19 79 0 0 0.002780 0 0 ZNF516 9658 broad.mit.edu 37 18 74153874 74153874 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:74153874G>A ENST00000443185.2 - 3 1454 c.1137C>T c.(1135-1137)acC>acT p.T379T ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) AGAACTGCTTGGTGTCCGAGG 0.726000 4 5 0 0 0.000248 0 0 SLC14A2 8170 broad.mit.edu 37 18 43221253 43221253 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:43221253C>G ENST00000255226.6 + 8 1887 c.1071C>G c.(1069-1071)atC>atG p.I357M SLC14A2_ENST00000586448.1_Missense_Mutation_p.I357M NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 357 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCATCGCCATCGGAGGCATGT 0.552000 8 35 0 0 0.008291 0 0 PSMA6 5687 broad.mit.edu 37 14 35786493 35786493 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:35786493C>T ENST00000261479.4 + 7 842 c.722C>T c.(721-723)gCt>gTt p.A241V KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.A222V|PSMA6_ENST00000555764.1_Missense_Mutation_p.A162V|PSMA6_ENST00000553809.1_Missense_Mutation_p.A247V|PSMA6_ENST00000556506.1_3'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 241 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 NF-kappaB transcription factor activity|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 mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CACCTTGTTGCTCTAGCAGAG 0.393000 55 100 0 0 0.003610 0 0 OR13C8 138802 broad.mit.edu 37 9 107331556 107331556 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:107331556G>A ENST00000335040.1 + 1 108 c.108G>A c.(106-108)ctG>ctA p.L36L NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 GGATGTACCTGATGATCCTGC 0.453000 75 50 0 0 0.003610 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506404 20506404 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 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 15 33 0 0 0.003163 0 0 CHRM5 1133 broad.mit.edu 37 15 34355903 34355903 + Missense_Mutation SNP G G A rs145125191 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:34355903G>A ENST00000383263.5 + 3 1655 c.985G>A c.(985-987)Ggt>Agt p.G329S CHRM5_ENST00000557872.1_Missense_Mutation_p.G329S NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 329 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CAAGAGTCAGGGTAAGGAAAG 0.502000 39 71 0 0 0.006999 0 0 ZNF214 7761 broad.mit.edu 37 11 7022720 7022720 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:7022720G>A ENST00000278314.4 - 3 509 c.194C>T c.(193-195)tCc>tTc p.S65F ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Missense_Mutation_p.S65F NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TTGCCAGTAGGAAAAATTTTC 0.393000 31 147 0 0 0.008361 0 0 VSTM1 284415 broad.mit.edu 37 19 54561757 54561757 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:54561757G>A ENST00000338372.2 - 3 333 c.158C>T c.(157-159)tCc>tTc p.S53F VSTM1_ENST00000425006.2_Missense_Mutation_p.S53F|VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Missense_Mutation_p.S53F NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 53 Ig-like V-type. integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CACATTCTGGGAATGAGCCTG 0.557000 27 124 0 0 0.007291 0 0 STAC 6769 broad.mit.edu 37 3 36422186 36422186 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:36422186G>A ENST00000273183.3 + 1 351 c.51G>A c.(49-51)aaG>aaA p.K17K STAC_ENST00000457375.2_Silent_p.K17K|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 17 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 GGCTGCCCAAGGAGGCGGTGG 0.677000 13 12 0 0 0.004007 0 0 SCAND3 114821 broad.mit.edu 37 6 28539927 28539927 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:28539927G>A ENST00000452236.2 - 4 4356 c.3739C>T c.(3739-3741)Cct>Tct p.P1247S NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1247 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 caaaatgaaggaagtgatgct 0.368000 18 32 0 0 0.007413 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738778 176738778 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:176738778G>C ENST00000367662.3 + 16 5523 c.4359G>C c.(4357-4359)tgG>tgC p.W1453C NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1453 Sushi 1. 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 CTGGGCACTGGGACCAGAATG 0.478000 26 72 0 0 0.003954 0 0 THSD4 79875 broad.mit.edu 37 15 71534994 71534994 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:71534994G>A ENST00000355327.3 + 5 605 c.471G>A c.(469-471)agG>agA p.R157R THSD4_ENST00000261862.6_Silent_p.R157R Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 157 TSP type-1 1. 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 TTAGGAGCAGGACCCGTGGTA 0.517000 102 190 0 0 0.003610 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60344530 60344530 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:60344530G>A ENST00000581291.1 - 0 974 breast(2)|kidney(1)|lung(2) 5 TTATCGGCATGAACGCCTGTT 0.602000 110 171 0 0 0.003610 0 0 FLNC 2318 broad.mit.edu 37 7 128494134 128494134 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:128494134G>A ENST00000325888.8 + 40 6852 c.6591G>A c.(6589-6591)cgG>cgA p.R2197R RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.R2164R NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2197 Intradomain insert. 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 GCAAGACGCGGGGCGGGGAGA 0.687000 10 25 0 0 0.008291 0 0 CENPE 1062 broad.mit.edu 37 4 104065532 104065532 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:104065532C>T ENST00000265148.3 - 33 5190 c.5101G>A c.(5101-5103)Gag>Aag p.E1701K CENPE_ENST00000380026.3_Missense_Mutation_p.E1676K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1701 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) TGGTCTCTCTCTACTTTGAGA 0.383000 23 74 0 0 0.002780 0 0 NPR2 4882 broad.mit.edu 37 9 35792846 35792846 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:35792846C>T ENST00000342694.2 + 1 696 c.441C>T c.(439-441)ccC>ccT p.P147P NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 147 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CCTCTGCTCCCAAGCTGGGTG 0.587000 44 19 0 0 0.002852 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570498 22570498 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:22570498G>A ENST00000510882.2 + 1 704 c.694G>A c.(694-696)Gag>Aag p.E232K HDGFL1_ENST00000230012.3_Missense_Mutation_p.E232K Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 232 Glu-rich. p.E232*(1) kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) AGTCGCGGACGAGGAGGCCTC 0.697000 3 6 0 0 0.004672 0 0 SLC22A7 10864 broad.mit.edu 37 6 43270099 43270099 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:43270099G>A ENST00000372585.5 + 8 1318 c.1223G>A c.(1222-1224)gGg>gAg p.G408E SLC22A7_ENST00000372589.3_Missense_Mutation_p.G406E|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G406E NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 408 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ACGCAAGCTGGGACACTGCTG 0.647000 5 23 0 0 0.001984 0 0 EMB 133418 broad.mit.edu 37 5 49699165 49699165 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:49699165G>A ENST00000303221.5 - 6 939 c.724C>T c.(724-726)Caa>Taa p.Q242* EMB_ENST00000514111.1_Nonsense_Mutation_p.Q192*|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Nonsense_Mutation_p.Q188* NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 242 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) TCGCCTAATTGGAATAGTGCA 0.413000 16 60 0 0 0.006122 0 0 PMEL 6490 broad.mit.edu 37 12 56349273 56349273 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:56349273C>T ENST00000548747.1 - 9 2399 c.1737G>A c.(1735-1737)gtG>gtA p.V579V PMEL_ENST00000550464.1_Silent_p.V493V|PMEL_ENST00000550447.1_Silent_p.V208V|PMEL_ENST00000539511.1_Silent_p.V493V|PMEL_ENST00000360714.4_Silent_p.V579V|PMEL_ENST00000536427.1_Silent_p.V537V|PMEL_ENST00000552882.1_Silent_p.V579V|PMEL_ENST00000449260.2_Silent_p.V579V|PMEL_ENST00000548493.1_Silent_p.V579V P40967 PMEL_HUMAN premelanosome protein 579 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGGTGCTGACCACTGCCAGGC 0.572000 19 46 0 0 0.001882 0 0 TENM4 26011 broad.mit.edu 37 11 78419459 78419459 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:78419459C>T ENST00000278550.7 - 27 4618 c.4156G>A c.(4156-4158)Gat>Aat p.D1386N NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GATGTGAGATCATTAGAGCCG 0.512000 19 8 0 0 0.001523 0 0 ATP13A4 84239 broad.mit.edu 37 3 193232575 193232575 + Missense_Mutation SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:193232575A>T ENST00000342695.4 - 2 468 c.146T>A c.(145-147)gTg>gAg p.V49E ATP13A4_ENST00000295548.3_Missense_Mutation_p.V49E|ATP13A4_ENST00000392443.3_Missense_Mutation_p.V49E NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 49 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCAGTAAAACACCAAGGGGAG 0.502000 22 60 0 0 0.002299 0 0 ERC1 23085 broad.mit.edu 37 12 1137460 1137460 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:1137460C>T ENST00000397203.2 + 2 797 c.391C>T c.(391-393)Cct>Tct p.P131S ERC1_ENST00000360905.4_Missense_Mutation_p.P131S|ERC1_ENST00000543086.3_Missense_Mutation_p.P131S|ERC1_ENST00000589028.1_Missense_Mutation_p.P131S|ERC1_ENST00000355446.5_Missense_Mutation_p.P131S|ERC1_ENST00000546231.2_Missense_Mutation_p.P131S Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 131 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GCATCACCTCCCTCCTGTGAG 0.498000 23 54 0 0 0.001882 0 0 CATSPERB 79820 broad.mit.edu 37 14 92055942 92055942 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:92055942G>A ENST00000256343.3 - 24 3048 c.2892C>T c.(2890-2892)gtC>gtT p.V964V NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 964 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) ATTGCAATGGGACACGTCCAT 0.368000 21 37 0 0 0.002299 0 0 NHSL2 340527 broad.mit.edu 37 X 71359251 71359251 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:71359251A>G ENST00000373677.1 + 2 2017 c.755A>G c.(754-756)cAg>cGg p.Q252R NHSL2_ENST00000535692.1_Missense_Mutation_p.Q252R|NHSL2_ENST00000540800.1_Missense_Mutation_p.Q618R|NHSL2_ENST00000510661.1_Missense_Mutation_p.Q387R F5H593 F5H593_HUMAN NHS-like 2 618 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CCAGATGCTCAGGGTCACCCA 0.522000 22 7 0 0 0.002780 0 0 SHANK1 50944 broad.mit.edu 37 19 51170630 51170630 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:51170630G>A ENST00000293441.1 - 22 4605 c.4587C>T c.(4585-4587)ccC>ccT p.P1529P SHANK1_ENST00000359082.3_Silent_p.P1520P|SHANK1_ENST00000391814.1_Silent_p.P1537P|SHANK1_ENST00000391813.1_Silent_p.P916P|SYT3_ENST00000544769.1_Intron NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1529 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) AGGTCGGGGAGGGGGGCACGG 0.736000 7 14 0 0 0.003080 0 0 OBSCN 84033 broad.mit.edu 37 1 228433369 228433369 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:228433369C>A ENST00000570156.2 + 13 4087 c.4013C>A c.(4012-4014)tCc>tAc p.S1338Y OBSCN_ENST00000422127.1_Missense_Mutation_p.S1246Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1246Y|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 322 Ig-like 13. 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) CAGAGAGTCTCCTTTCAACTG 0.537000 22 79 8.24728e-16 9.2161e-16 0.004656 1 0 IPO9 55705 broad.mit.edu 37 1 201838745 201838745 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:201838745G>A ENST00000361565.4 + 17 2101 c.2032G>A c.(2032-2034)Gta>Ata p.V678I NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 678 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 GACAACAGTAGTACGAAATAC 0.483000 33 62 0 0 0.004878 0 0 GRM7 2917 broad.mit.edu 37 3 7721838 7721838 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:7721838C>T ENST00000486284.1 + 9 2828 c.2554C>T c.(2554-2556)Cct>Tct p.P852S GRM7_ENST00000403881.1_Missense_Mutation_p.P852S|GRM7_ENST00000389336.4_Missense_Mutation_p.P852S|GRM7_ENST00000402647.2_Missense_Mutation_p.P852S|GRM7_ENST00000357716.4_Missense_Mutation_p.P852S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 852 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) CATTTTCCACCCTGAACTCAA 0.493000 18 53 0 0 0.004990 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156907240 156907240 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:156907240G>A ENST00000368194.3 - 39 5280 c.4241C>T c.(4240-4242)aCc>aTc p.T1414I ARHGEF11_ENST00000361409.2_Missense_Mutation_p.T1374I|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.T790I|ARHGEF11_ENST00000487682.1_5'UTR NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1374 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 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) TGAGTGGTCGGTGCTTGAGTC 0.587000 21 43 0 0 0.001882 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818734 159818734 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:159818734G>A ENST00000497452.1 - 0 517 AGGAGGGAACGAAGTCACCGA 0.507000 28 73 0 0 0.004656 0 0 GYPB 2994 broad.mit.edu 37 4 144922345 144922345 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:144922345C>T ENST00000283126.7 - 2 184 c.129G>A c.(127-129)caG>caA p.Q43Q RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Intron|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Silent_p.Q43Q|GYPB_ENST00000502664.1_Silent_p.Q43Q glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) AACCATTTGTCTGTGATGAGA 0.373000 29 75 0 0 0.005524 0 0 TP53 7157 broad.mit.edu 37 17 7578400 7578400 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:7578400G>A ENST00000420246.2 - 5 662 c.530C>T c.(529-531)cCc>cTc p.P177L TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177L|TP53_ENST00000269305.4_Missense_Mutation_p.P177L|TP53_ENST00000359597.4_Missense_Mutation_p.P177L|TP53_ENST00000413465.2_Missense_Mutation_p.P177L|TP53_ENST00000445888.2_Missense_Mutation_p.P177L 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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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) CTCATGGTGGGGGCAGCGCCT 0.647000 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) 24 19 0 0 0.004656 0 0 SPTA1 6708 broad.mit.edu 37 1 158607988 158607988 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:158607988G>A ENST00000368148.3 - 36 5204 c.5024C>T c.(5023-5025)tCc>tTc p.S1675F SPTA1_ENST00000368147.3_Missense_Mutation_p.S1675F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1675 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) AGTCCCGCTGGAGAGCAAATC 0.423000 18 33 0 0 0.001523 0 0 CSMD2 114784 broad.mit.edu 37 1 34118059 34118059 + Missense_Mutation SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:34118059G>T ENST00000373381.4 - 28 4626 c.4450C>A c.(4450-4452)Ccc>Acc p.P1484T CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P357T NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1444 CUB 9. 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) CCCCCGCAGGGAGCTGAGGAG 0.562000 24 61 5.45024e-15 6.08319e-15 0.003330 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725660 140725660 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140725660C>T ENST00000253812.6 + 1 2060 c.2060C>T c.(2059-2061)tCg>tTg p.S687L 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) CCCAACGATTCGGACCTCACT 0.687000 35 48 0 0 0.003610 0 0 OR4M2 390538 broad.mit.edu 37 15 22369379 22369379 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:22369379C>T ENST00000332663.2 + 1 902 c.804C>T c.(802-804)tcC>tcT p.S268S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 268 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) ACTCGTTTTCCCTAGATAAAG 0.423000 27 51 0 0 0.002096 0 0 AOC4P 90586 broad.mit.edu 37 17 41020169 41020169 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:41020169G>A ENST00000585538.1 + 0 1008 NR_002773.1 GCTGATCCCAGACAATGGCAC 0.622000 9 14 0 0 0.006214 0 0 GBF1 8729 broad.mit.edu 37 10 104125239 104125239 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:104125239C>T ENST00000369983.3 + 18 2449 c.2189C>T c.(2188-2190)cCa>cTa p.P730L NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 730 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTCACCATCCCAATGGACAAC 0.488000 12 51 0 0 0.001368 0 0 CAMK2B 816 broad.mit.edu 37 7 44286758 44286758 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:44286758G>A ENST00000395749.2 - 6 451 c.375C>T c.(373-375)ctC>ctT p.L125L CAMK2B_ENST00000440254.2_Silent_p.L125L|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000395747.2_Silent_p.L125L|CAMK2B_ENST00000358707.3_Silent_p.L125L|CAMK2B_ENST00000353625.4_Silent_p.L125L|CAMK2B_ENST00000350811.3_Silent_p.L125L|CAMK2B_ENST00000347193.4_Silent_p.L125L|CAMK2B_ENST00000346990.4_Silent_p.L125L|CAMK2B_ENST00000258682.6_Silent_p.L125L|CAMK2B_ENST00000457475.1_Silent_p.L125L NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 125 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 GGTGACAATGGAGAACGGCCT 0.587000 11 16 0 0 0.000978 0 0 BIN2 51411 broad.mit.edu 37 12 51689613 51689613 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:51689613G>A ENST00000267012.4 - 9 789 c.728C>T c.(727-729)tCc>tTc p.S243F BIN2_ENST00000544402.1_Missense_Mutation_p.S217F|BIN2_ENST00000604560.1_Missense_Mutation_p.S216F|BIN2_ENST00000452142.2_Missense_Mutation_p.S211F NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 243 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GACTTTATTGGAATGTTGCTT 0.458000 83 130 0 0 0.003610 0 0 PRDM9 56979 broad.mit.edu 37 5 23526840 23526840 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:23526840G>A ENST00000296682.3 + 11 1825 c.1643G>A c.(1642-1644)gGg>gAg p.G548E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 548 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 ACACATACAGGGGAGAAGCTC 0.488000 HNSCC(3;0.000094) 33 67 0 0 0.001786 0 0 ADK 132 broad.mit.edu 37 10 75960589 75960589 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:75960589C>T ENST00000372734.3 + 2 269 c.82C>T c.(82-84)Ctt>Ttt p.L28F ADK_ENST00000286621.2_Missense_Mutation_p.L45F|ADK_ENST00000539909.1_Missense_Mutation_p.L45F|ADK_ENST00000541550.1_Missense_Mutation_p.L28F NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 45 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) CAAAGATTTCCTTGATAAGTA 0.328000 6 24 0 0 0.001984 0 0 C7 730 broad.mit.edu 37 5 40947812 40947812 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:40947812C>T ENST00000313164.9 + 8 1206 c.847C>T c.(847-849)Ctc>Ttc p.L283F NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 283 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GCTTTCCCACCTCCCCTCTCT 0.448000 32 51 0 0 0.002445 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508087 37508087 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:37508087C>T ENST00000374660.1 + 40 3735 c.3636C>T c.(3634-3636)acC>acT p.T1212T ANKRD30A_ENST00000361713.1_Silent_p.T1093T|ANKRD30A_ENST00000602533.1_Silent_p.T1093T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1170 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTCAGATGACCCTAAAACTGA 0.348000 34 124 0 0 0.007835 0 0 TBX5 6910 broad.mit.edu 37 12 114803958 114803958 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:114803958G>A ENST00000526441.1 - 7 993 c.994C>T c.(994-996)Cac>Tac p.H332Y TBX5_ENST00000405440.2_Intron|TBX5_ENST00000310346.4_Intron|TBX5_ENST00000349716.5_Intron Q99593 TBX5_HUMAN T-box 5 336 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) GACCAGGGGTGATCACACTCA 0.473000 13 23 0 0 0.001368 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43769915 43769915 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:43769915C>T ENST00000389420.3 - 35 5256 c.5257G>A c.(5257-5259)Gaa>Aaa p.E1753K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1753 GON. 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) GTTAAATATTCCTTAGGGTTC 0.338000 3 14 0 0 0.004672 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462748 21462748 + Silent SNP G G T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:21462748G>T ENST00000281523.2 - 8 1664 c.1146C>A c.(1144-1146)ccC>ccA p.P382P NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 382 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 CGGTCCGAATGGGTCCAGGAG 0.488000 12 27 3.27435e-08 3.62855e-08 0.002450 1 0 WDR7 23335 broad.mit.edu 37 18 54424157 54424157 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:54424157C>T ENST00000254442.3 + 15 2544 c.2333C>T c.(2332-2334)cCt>cTt p.P778L WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P778L NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 778 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GAAAGTGATCCTGAATATCGG 0.428000 6 26 0 0 0.001168 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354287 17354287 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:17354287G>A ENST00000511821.1 + 0 146 FTH1P10_ENST00000401830.3_RNA ATATCCTGAAGGAAGATTCGG 0.453000 34 93 0 0 0.004878 0 0 DAW1 164781 broad.mit.edu 37 2 228783512 228783512 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:228783512C>T ENST00000309931.2 + 11 1073 c.990C>T c.(988-990)ttC>ttT p.F330F DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Silent_p.F315F NM_178821.1 NP_849143.1 dynein assembly factor with WDR repeat domains 1 CAAGAATTTTCAGTGCTGCCA 0.343000 17 25 0 0 0.008871 0 0 OR5R1 219479 broad.mit.edu 37 11 56184863 56184863 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56184863G>A ENST00000312253.1 - 1 845 c.846C>T c.(844-846)atC>atT p.I282I NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 282 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) TTAACATGGGGATCACCACTG 0.383000 37 46 0 0 0.005524 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909368 32909368 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:32909368G>A ENST00000304056.4 - 4 2160 c.1461C>T c.(1459-1461)ctC>ctT p.L487L AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 487 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TGCCAGAGGGGAGTCTTATGC 0.423000 43 70 0 0 0.003610 0 0 DCHS2 54798 broad.mit.edu 37 4 155241618 155241618 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:155241618C>T ENST00000357232.3 - 14 3567 c.3568G>A c.(3568-3570)Gat>Aat p.D1190N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1190 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCGTCTGGATCGTGAGCAGTT 0.453000 81 122 0 0 0.003610 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515792 47515792 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:47515792C>T ENST00000371901.3 + 12 1726 c.1476C>T c.(1474-1476)atC>atT p.I492I CYP4X1_ENST00000538609.1_Silent_p.I491I NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 492 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 ACCATTTTATCCTCAAGCCCA 0.418000 48 55 0 0 0.003610 0 0 SLC12A5 57468 broad.mit.edu 37 20 44672309 44672309 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:44672309G>A ENST00000454036.1 + 10 1420 c.1344G>A c.(1342-1344)agG>agA p.R448R SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.R425R NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 448 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGGACCTGAGGGATGCCCAGA 0.592000 23 74 0 0 0.004656 0 0 OLIG3 167826 broad.mit.edu 37 6 137814849 137814849 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:137814849C>T ENST00000367734.2 - 1 682 c.459G>A c.(457-459)ggG>ggA p.G153G NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) AGTGGTGGCCCCCATAGATCT 0.657000 13 25 0 0 0.002450 0 0 OR2T4 127074 broad.mit.edu 37 1 248524930 248524930 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248524930C>T ENST00000366475.1 + 1 48 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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) GGTCGGATTTCATCCTGATGG 0.493000 20 45 0 0 0.002780 0 0 ADRBK1 156 broad.mit.edu 37 11 67052452 67052452 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:67052452C>T ENST00000308595.5 + 19 2079 c.1789C>T c.(1789-1791)Ccg>Tcg p.P597S ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 597 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GGGCGAGGCCCCGGTAAGGAG 0.706000 8 15 0 0 0.003080 0 0 BCL7C 9274 broad.mit.edu 37 16 30900257 30900257 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:30900257C>G ENST00000380317.4 - 5 809 c.452G>C c.(451-453)gGc>gCc p.G151A BCL7C_ENST00000215115.4_Missense_Mutation_p.G151A|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 151 Pro-rich. apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) AGCAGTTATGCCCCCGGGATC 0.587000 10 76 0 0 0.001855 0 0 KLHL13 90293 broad.mit.edu 37 X 117044002 117044002 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:117044002C>T ENST00000371876.1 - 4 2896 c.475G>A c.(475-477)Gaa>Aaa p.E159K KLHL13_ENST00000541812.1_Missense_Mutation_p.E194K|KLHL13_ENST00000371878.1_Missense_Mutation_p.E159K|KLHL13_ENST00000539496.1_Missense_Mutation_p.E213K|KLHL13_ENST00000469946.1_Missense_Mutation_p.E159K|KLHL13_ENST00000371882.1_Missense_Mutation_p.E159K|KLHL13_ENST00000262820.3_Missense_Mutation_p.E210K|KLHL13_ENST00000540167.1_Missense_Mutation_p.E194K|KLHL13_ENST00000545703.1_Missense_Mutation_p.E168K Q9P2N7 KLH13_HUMAN kelch-like family member 13 210 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TTATCCACTTCGGTTAGATTG 0.388000 36 14 0 0 0.005524 0 0 LTBP1 4052 broad.mit.edu 37 2 33505208 33505208 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:33505208G>A ENST00000404816.2 + 19 3448 c.3095G>A c.(3094-3096)tGg>tAg p.W1032* LTBP1_ENST00000354476.3_Nonsense_Mutation_p.W1033*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.W653*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.W707*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.W653*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.W706*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.W706* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1032 EGF-like 7; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TTCCGAGGCTGGAATGGACAG 0.448000 19 28 0 0 0.008871 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119120819 119120819 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:119120819C>T ENST00000264245.4 + 10 1752 c.1220C>T c.(1219-1221)gCt>gTt p.A407V NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 407 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 CCTCCCGGGGCTGAGGGTGGC 0.627000 24 21 0 0 0.005443 0 0 CSH2 1443 broad.mit.edu 37 17 61950972 61950972 + Translation_Start_Site SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:61950972C>T ENST00000336844.5 - 1 154 c.3G>A c.(1-3)atG>atA p.M1I CSH2_ENST00000560142.1_Start_Codon_SNP_p.M1I|CSH2_ENST00000392886.2_Start_Codon_SNP_p.M1I|CSH2_ENST00000345366.7_Start_Codon_SNP_p.M1I NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 1 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 TACCTGCAGCCATTGCCGCTA 0.602000 7 35 0 0 0.006122 0 0 LRRK2 120892 broad.mit.edu 37 12 40697974 40697974 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:40697974G>A ENST00000343742.2 + 27 3936 c.3815G>A c.(3814-3816)tGa>tAa p.*1272* LRRK2_ENST00000298910.7_Intron Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 0 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TATACTTTATGATTTGCATCA 0.289000 5 15 0 0 0.000602 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696344 48696344 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:48696344C>T ENST00000352832.5 + 31 6026 c.5654C>T c.(5653-5655)tCc>tTc p.S1885F CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1885F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1885F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1867F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1912F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1894F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1919F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1885F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1874F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1885F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1896F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1919F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1896F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1874F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1901F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1901F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1919F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1862F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1926F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1919F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1878F 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 1919 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) AGATCAGCCTCCCACTTTTCC 0.711000 4 9 0 0 0.000602 0 0 GLI2 2736 broad.mit.edu 37 2 121708892 121708892 + Missense_Mutation SNP C C T rs143139718 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:121708892C>T ENST00000452319.1 + 4 388 c.328C>T c.(328-330)Cct>Tct p.P110S GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P110S|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 110 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) CCCGGCTGGCCCTGGGGAGTC 0.647000 33 65 0 0 0.002836 0 0 KMT2A 4297 broad.mit.edu 37 11 118344458 118344458 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:118344458C>T ENST00000534358.1 + 3 2607 c.2584C>T c.(2584-2586)Cga>Tga p.R862* KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R862*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R862* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTCCAAAGATCGAGATGCTGA 0.488000 9 9 0 0 0.004482 0 0 SV2A 9900 broad.mit.edu 37 1 149885369 149885369 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:149885369C>T ENST00000369146.3 - 2 514 c.24G>A c.(22-24)cgG>cgA p.R8R SV2A_ENST00000369145.1_Silent_p.R8R NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 8 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) TGAAAGCTGCCCGGTCTCGGA 0.527000 24 73 0 0 0.005443 0 0 BAG6 7917 broad.mit.edu 37 6 31612874 31612874 + Silent SNP G G A rs138634242 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:31612874G>A ENST00000404765.2 - 10 1507 c.1218C>T c.(1216-1218)tcC>tcT p.S406S BAG6_ENST00000375964.6_Silent_p.S412S|BAG6_ENST00000362049.6_Silent_p.S406S|BAG6_ENST00000439687.2_Silent_p.S406S|BAG6_ENST00000375976.4_Silent_p.S406S|BAG6_ENST00000211379.5_Silent_p.S406S P46379 BAG6_HUMAN BCL2-associated athanogene 6 412 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 ACGGAGCCACGGATGAGGCCT 0.657000 256 420 0 0 0.003610 0 0 DNAJC17 55192 broad.mit.edu 37 15 41068488 41068488 + Silent SNP G G A rs146094788 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:41068488G>A ENST00000220496.4 - 6 414 c.384C>T c.(382-384)atC>atT p.I128I NM_018163.2 NP_060633.1 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 128 protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TCAGGCGTTCGATCTGCAGAG 0.587000 13 21 0 0 0.001368 0 0 IGHA1 3493 broad.mit.edu 37 14 106174455 106174455 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:106174455G>A ENST00000390547.2 - 0 333 ggagttgagggagatggggta 0.627000 3 7 0 0 0.004672 0 0 CHRNA5 1138 broad.mit.edu 37 15 78873238 78873238 + Silent SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:78873238T>A ENST00000299565.5 + 2 392 c.192T>A c.(190-192)ccT>ccA p.P64P CHRNA5_ENST00000559554.1_Silent_p.P64P NM_000745.3 NP_000736.2 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 (neuronal) 64 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 GGGTTCGTCCTGTGGAACACC 0.343000 22 40 0 0 0.001882 0 0 KCNK10 54207 broad.mit.edu 37 14 88729597 88729597 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:88729597G>A ENST00000340700.5 - 2 787 c.336C>T c.(334-336)ttC>ttT p.F112F KCNK10_ENST00000312350.5_Silent_p.F117F|KCNK10_ENST00000319231.5_Silent_p.F117F NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 112 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 GATCCCGCAGGAATTCCGCCT 0.582000 13 34 0 0 0.001855 0 0 TFEB 7942 broad.mit.edu 37 6 41653836 41653836 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:41653836G>A ENST00000230323.4 - 9 1244 c.943C>T c.(943-945)Cgt>Tgt p.R315C TFEB_ENST00000358871.2_Missense_Mutation_p.R329C|TFEB_ENST00000420312.1_Missense_Mutation_p.R230C|TFEB_ENST00000373033.1_Missense_Mutation_p.R315C|TFEB_ENST00000403298.4_Missense_Mutation_p.R315C NM_001271945.1|NM_007162.2 NP_001258874.1|NP_009093.1 P19484 TFEB_HUMAN transcription factor EB 315 Leucine-zipper. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACCTGGATACGGAGCCAGAGC 0.542000 T ALPHA renal (childhood epithelioid) 20 66 0 0 0.002780 0 0 OR4N4 283694 broad.mit.edu 37 15 22383340 22383340 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:22383340C>T ENST00000328795.4 + 1 959 c.868C>T c.(868-870)Cgc>Tgc p.R290C RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 290 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) TTATACCCTTCGCAACCAGGA 0.413000 30 73 0 0 0.008361 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707705 75707705 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:75707705C>T ENST00000370855.5 - 9 626 c.513G>A c.(511-513)gcG>gcA p.A171A SLC44A5_ENST00000370859.3_Silent_p.A171A|SLC44A5_ENST00000535611.1_Silent_p.A41A NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 171 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGGGAAAAATCGCTGTTGGAC 0.353000 35 82 0 0 0.002522 0 0 ESPNL 339768 broad.mit.edu 37 2 239016574 239016574 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:239016574G>A ENST00000343063.3 + 4 1078 c.815G>A c.(814-816)gGg>gAg p.G272E ESPNL_ENST00000409169.1_Missense_Mutation_p.G272E NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 272 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) TCCTGGGGTGGGACCCCCCTC 0.657000 5 21 0 0 0.000602 0 0 NCOA6 23054 broad.mit.edu 37 20 33328842 33328842 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:33328842G>A ENST00000374796.2 - 12 7788 c.5218C>T c.(5218-5220)Cct>Tct p.P1740S NCOA6_ENST00000359003.2_Missense_Mutation_p.P1740S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1740 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AGCTGAACAGGGGTGGCTCGT 0.522000 45 74 0 0 0.003214 0 0 GPR75 10936 broad.mit.edu 37 2 54081724 54081724 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:54081724G>A ENST00000394705.2 - 2 440 c.170C>T c.(169-171)tCc>tTc p.S57F ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 57 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTTGCCATAGGAACCCAGGCA 0.488000 18 18 0 0 0.004990 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156629446 156629446 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:156629446G>A ENST00000296518.7 + 5 585 c.376_splice c.e5+1 p.G126_splice GUCY1A3_ENST00000513574.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000506455.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000511507.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000455639.2_Splice_Site_p.G126_splice|GUCY1A3_ENST00000515602.1_3'UTR Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 126 AAGV -> QQS (in Ref. 1; CAA47145). 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 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) AGTTGCAGCAGGTAATAGAAT 0.294000 21 59 0 0 0.004656 0 0 ZNF365 22891 broad.mit.edu 37 10 64159307 64159307 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:64159307C>T ENST00000395254.3 + 5 1263 c.983C>T c.(982-984)tCg>tTg p.S328L ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) CACCCGCATTCGGTATGTAAC 0.493000 56 65 0 0 0.003610 0 0 KIAA1109 84162 broad.mit.edu 37 4 123274229 123274229 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:123274229C>T ENST00000264501.4 + 81 14393 c.14020C>T c.(14020-14022)Cgt>Tgt p.R4674C KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4674C Q2LD37 K1109_HUMAN KIAA1109 4674 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 TCCAAATTTTCGTTCAAAATC 0.368000 22 46 0 0 0.002299 0 0 OR4C12 283093 broad.mit.edu 37 11 50003782 50003782 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:50003782C>T ENST00000335238.4 - 1 289 c.256G>A c.(256-258)Gag>Aag p.E86K NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 ATTTTCTTCTCTTGAAAGGAA 0.433000 40 64 0 0 0.002522 0 0 RGPD4 285190 broad.mit.edu 37 2 108488514 108488514 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:108488514G>A ENST00000408999.3 + 20 4131 c.4054G>A c.(4054-4056)Gaa>Aaa p.E1352K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1352K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1352 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAGTGGTGAGGAAAATGAAAA 0.368000 109 133 0 0 0.003610 0 0 SYCP1 6847 broad.mit.edu 37 1 115487547 115487547 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:115487547G>A ENST00000369522.3 + 25 2338 c.2098G>A c.(2098-2100)Gat>Aat p.D700N SYCP1_ENST00000369518.1_Missense_Mutation_p.D700N NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 700 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) GAAAGAAATTGATAAGCGATG 0.264000 15 25 0 0 0.006122 0 0 ALS2 57679 broad.mit.edu 37 2 202632042 202632042 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:202632042G>A ENST00000264276.6 - 3 457 c.85C>T c.(85-87)Ccc>Tcc p.P29S ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.P29S NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 29 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 GGTGTTATGGGAAAGGATCCT 0.468000 12 23 0 0 0.001855 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907988 164907988 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:164907988G>A ENST00000475390.1 - 2 1074 c.631C>T c.(631-633)Ctt>Ttt p.L211F SLITRK3_ENST00000241274.3_Missense_Mutation_p.L211F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 211 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CGGTAAAAAAGAACCTTTAAC 0.398000 HNSCC(40;0.11) 16 47 0 0 0.008871 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776189 159776189 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:159776189G>A ENST00000393975.3 - 3 982 c.979C>T c.(979-981)Ccc>Tcc p.P327S NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 282 collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 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) ACCTCGTTGGGGTCATCCTGG 0.557000 45 47 0 0 0.003610 0 0 THSD7A 221981 broad.mit.edu 37 7 11630229 11630229 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:11630229C>T ENST00000423059.3 - 4 1562 c.1311G>A c.(1309-1311)gtG>gtA p.V437V NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 437 TSP type-1 4. 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) GCAAAGGGTCCACACGGCACT 0.547000 HNSCC(18;0.044) 11 14 0 0 0.008291 0 0 PPP1R10 5514 broad.mit.edu 37 6 30569862 30569862 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:30569862C>T ENST00000376511.2 - 19 3116 c.2564G>A c.(2563-2565)gGg>gAg p.G855E NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 855 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCATGGGGCCCCCCGTGTCC 0.672000 18 39 0 0 0.007413 0 0 PHRF1 57661 broad.mit.edu 37 11 607720 607720 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:607720C>T ENST00000264555.5 + 14 2392 c.2264C>T c.(2263-2265)tCc>tTc p.S755F PHRF1_ENST00000533464.1_Missense_Mutation_p.S751F|PHRF1_ENST00000416188.2_Missense_Mutation_p.S754F|PHRF1_ENST00000413872.2_Missense_Mutation_p.S753F NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 755 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GCCCCCAGCTCCCATGGCAGT 0.667000 9 18 0 0 0.006214 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695545 219695545 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219695545C>T ENST00000439262.2 - 3 173 c.78G>A c.(76-78)ggG>ggA p.G26G PRKAG3_ENST00000392098.3_Silent_p.G51G|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Silent_p.G51G NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 51 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCCGTTTCCCACGGATTC 0.587000 48 54 0 0 0.003610 0 0 LLGL2 3993 broad.mit.edu 37 17 73565087 73565087 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:73565087G>A ENST00000392550.3 + 13 1468 c.1351G>A c.(1351-1353)Gat>Aat p.D451N LLGL2_ENST00000577200.1_Missense_Mutation_p.D451N|LLGL2_ENST00000167462.5_Missense_Mutation_p.D451N NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 451 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GCGGTTCTGGGATGCCTCGGG 0.667000 9 16 0 0 0.006214 0 0 CXCR2 3579 broad.mit.edu 37 2 219000202 219000202 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:219000202C>T ENST00000318507.2 + 3 1105 c.678C>T c.(676-678)atC>atT p.I226I NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 226 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CACTGCTGATCATGCTGTTCT 0.567000 41 115 0 0 0.002522 0 0 DMPK 1760 broad.mit.edu 37 19 46280937 46280937 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:46280937G>A ENST00000600757.1 - 6 1587 c.900C>T c.(898-900)atC>atT p.I300I DMPK_ENST00000447742.2_Silent_p.I290I|DMPK_ENST00000291270.4_Silent_p.I290I|DMPK_ENST00000354227.5_Silent_p.I290I|DMPK_ENST00000458663.2_Silent_p.I290I|DMPK_ENST00000343373.4_Silent_p.I300I Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 300 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TGTAGTGGACGATCTTGCCAT 0.617000 58 99 0 0 0.003610 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103597417 103597417 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:103597417G>A ENST00000560869.1 + 7 1867 c.1228G>A c.(1228-1230)Gag>Aag p.E410K TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E410K|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.E79K Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 410 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) TGAATTTCTGGAGAGAGGCAA 0.562000 11 70 0 0 0.001368 0 0 ZNF793 390927 broad.mit.edu 37 19 38028636 38028636 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38028636G>A ENST00000445217.1 + 4 1111 c.1076G>A c.(1075-1077)aGa>aAa p.R359K ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.R359K|ZNF793_ENST00000542455.1_Missense_Mutation_p.R359K|ZNF793_ENST00000589319.1_Intron Q6ZN11 ZN793_HUMAN zinc finger protein 793 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAACATTGGAGAACTCACACA 0.448000 29 42 0 0 0.002836 0 0 SMYD5 10322 broad.mit.edu 37 2 73446039 73446039 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:73446039C>T ENST00000389501.4 + 2 192 c.147C>T c.(145-147)ttC>ttT p.F49F SMYD5_ENST00000474652.1_3'UTR NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 49 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 AGACCATCTTCGTAGAACGGC 0.537000 33 25 0 0 0.004289 0 0 CELSR3 1951 broad.mit.edu 37 3 48694669 48694669 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:48694669G>A ENST00000544264.1 - 2 4141 c.3861C>T c.(3859-3861)ttC>ttT p.F1287F CELSR3_ENST00000164024.4_Silent_p.F1287F Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1287 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCGGTGACAGGAAGCGCTCCT 0.637000 8 12 0 0 0.003080 0 0 DTNA 1837 broad.mit.edu 37 18 32398223 32398223 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:32398223G>A ENST00000283365.9 + 9 1156 c.805G>A c.(805-807)Gac>Aac p.D269N DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.D269N|DTNA_ENST00000597599.1_Missense_Mutation_p.D269N|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Missense_Mutation_p.D269N|DTNA_ENST00000598774.1_Missense_Mutation_p.D269N|DTNA_ENST00000598142.1_Missense_Mutation_p.D269N|DTNA_ENST00000399121.5_Missense_Mutation_p.D269N|DTNA_ENST00000315456.6_Missense_Mutation_p.D269N|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000598334.1_Missense_Mutation_p.D269N|DTNA_ENST00000399113.3_Missense_Mutation_p.D269N|DTNA_ENST00000554864.3_Missense_Mutation_p.D269N|DTNA_ENST00000444659.1_Missense_Mutation_p.D269N|DTNA_ENST00000595022.1_Missense_Mutation_p.D269N|DTNA_ENST00000269190.7_Missense_Mutation_p.D269N NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 269 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GCTCTGTCAGGACTGCTTCTG 0.507000 14 49 0 0 0.001855 0 0 GRM6 2916 broad.mit.edu 37 5 178413621 178413621 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:178413621C>T ENST00000231188.5 - 8 1812 c.1634G>A c.(1633-1635)gGg>gAg p.G545E GRM6_ENST00000517717.1_Missense_Mutation_p.G545E|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 545 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GAAGCGGTACCCGTCACAGGC 0.687000 6 36 0 0 0.001168 0 0 MYBPC1 4604 broad.mit.edu 37 12 102054987 102054987 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:102054987G>A ENST00000549145.1 + 19 2043 c.1943G>A c.(1942-1944)tGg>tAg p.W648* MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.W622*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.W536*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.W660*|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.W660*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.W609*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.W621*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.W623*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.W616*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.W635* Q00872 MYPC1_HUMAN myosin binding protein C, slow type 635 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GGAGATGACTGGTGTATCATG 0.493000 17 32 0 0 0.007413 0 0 ANK3 288 broad.mit.edu 37 10 61833636 61833636 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:61833636C>T ENST00000280772.1 - 37 7194 c.7003G>A c.(7003-7005)Gaa>Aaa p.E2335K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2335 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 TTACCTTTTTCGATGTGGACT 0.428000 31 90 0 0 0.008361 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166766 140166766 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:140166766C>T ENST00000504120.2 + 1 891 c.891C>T c.(889-891)tcC>tcT p.S297S PCDHA1_ENST00000378133.3_Silent_p.S297S|PCDHA1_ENST00000394633.3_Silent_p.S297S NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTTGATTCCAGCTCAGGAG 0.368000 13 55 0 0 0.001855 0 0 KCNH5 27133 broad.mit.edu 37 14 63316382 63316382 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:63316382C>T ENST00000322893.7 - 8 1826 c.1558G>A c.(1558-1560)Gat>Aat p.D520N KCNH5_ENST00000420622.2_Missense_Mutation_p.D520N|KCNH5_ENST00000394968.1_Missense_Mutation_p.D462N NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 520 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) TTTTCTGTATCAATGCCTTTT 0.358000 38 57 0 0 0.004878 0 0 KDM1B 221656 broad.mit.edu 37 6 18186031 18186031 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:18186031C>T ENST00000388870.2 + 8 804 c.563C>T c.(562-564)cCa>cTa p.P188L KDM1B_ENST00000297792.5_Missense_Mutation_p.P188L|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.P188L Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 188 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 TGTTCCCTCCCAGAGGATCTA 0.373000 39 97 0 0 0.003214 0 0 CD300LB 124599 broad.mit.edu 37 17 72522044 72522044 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:72522044C>T ENST00000392621.1 - 2 328 c.324G>A c.(322-324)gaG>gaA p.E108E CD300LB_ENST00000314401.3_Silent_p.E108E NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 71 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 GGTCACTCTTCTCTCCTTGCT 0.532000 71 99 0 0 0.003610 0 0 C1orf106 55765 broad.mit.edu 37 1 200881005 200881005 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:200881005G>A ENST00000367342.4 + 9 1839 c.1639G>A c.(1639-1641)Gag>Aag p.E547K C1orf106_ENST00000413687.2_Missense_Mutation_p.E462K NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 547 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CCCTGCTTACGAGGAGGAGGG 0.746000 5 8 0 0 0.001984 0 0 TECRL 253017 broad.mit.edu 37 4 65145804 65145804 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:65145804G>A ENST00000381210.3 - 12 1188 c.1078C>T c.(1078-1080)Cca>Tca p.P360S TECRL_ENST00000507440.1_Intron NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 360 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AATATGAATGGAATCATTGCT 0.274000 13 21 0 0 0.001855 0 0 MORC2 22880 broad.mit.edu 37 22 31333589 31333589 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:31333589G>A ENST00000215862.4 - 16 2656 c.1293C>T c.(1291-1293)atC>atT p.I431I MORC2_ENST00000397641.2_Silent_p.I493I|MORC2_ENST00000469915.1_Intron NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 493 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TGGTGGTGGGGATTTCCATAG 0.552000 36 53 0 0 0.004289 0 0 C10orf129 142827 broad.mit.edu 37 10 96967153 96967153 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:96967153G>A ENST00000341686.3 + 4 717 c.592G>A c.(592-594)Gat>Aat p.D198N C10orf129_ENST00000394005.3_Missense_Mutation_p.D198N|C10orf129_ENST00000430183.1_Missense_Mutation_p.D43N NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 198 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) TGGGTGGTTGGATTTCAAGAA 0.418000 23 30 0 0 0.003330 0 0 PTH2R 5746 broad.mit.edu 37 2 209345797 209345797 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:209345797G>A ENST00000272847.2 + 10 1197 c.984G>A c.(982-984)ctG>ctA p.L328L PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 328 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTTTTCAGCTGAATTTTATTC 0.303000 11 14 0 0 0.000978 0 0 EDN3 1908 broad.mit.edu 37 20 57876712 57876712 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:57876712C>T ENST00000311585.7 + 2 670 c.300C>T c.(298-300)ttC>ttT p.F100F EDN3_ENST00000395654.3_Silent_p.F100F|EDN3_ENST00000371028.2_Silent_p.F100F|EDN3_ENST00000371025.3_Silent_p.F100F|EDN3_ENST00000337938.2_Silent_p.F100F NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 100 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) GCACGTGCTTCACCTACAAGG 0.612000 58 95 0 0 0.003610 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153909170 153909170 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:153909170C>T ENST00000356448.4 + 8 2017 c.1733C>T c.(1732-1734)cCc>cTc p.P578L ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.P578L NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 578 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 CTCATTCTCCCCATGCAGAGG 0.463000 12 25 0 0 0.001368 0 0 CDH2 1000 broad.mit.edu 37 18 25543453 25543453 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:25543453G>A ENST00000269141.3 - 15 2805 c.2382C>T c.(2380-2382)gaC>gaT p.D794D CDH2_ENST00000399380.3_Silent_p.D763D|AC015933.2_ENST00000423367.1_RNA NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 794 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GCTCCACAGTGTCAGGCTGCT 0.522000 6 27 0 0 0.001984 0 0 HYDIN 54768 broad.mit.edu 37 16 70871691 70871691 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:70871691G>A ENST00000393567.2 - 77 13294 c.13144C>T c.(13144-13146)Cct>Tct p.P4382S NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4382 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) CTTTCTCGAGGATAAAAAGTT 0.418000 9 45 0 0 0.000978 0 0 GRM1 2911 broad.mit.edu 37 6 146351045 146351045 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:146351045G>A ENST00000392299.2 + 2 862 c.392G>A c.(391-393)cGa>cAa p.R131Q GRM1_ENST00000282753.1_Missense_Mutation_p.R131Q|GRM1_ENST00000492807.2_Missense_Mutation_p.R131Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R131Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R131Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R131Q Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 131 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) ATTTCCATTCGAGATGAGAAG 0.582000 41 53 0 0 0.008740 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965514 35965514 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:35965514C>T ENST00000274278.3 - 4 1174 c.817G>A c.(817-819)Gaa>Aaa p.E273K UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.E239K|UGT3A1_ENST00000333811.4_Missense_Mutation_p.E219K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E273K NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 273 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) ATAGGTTTTTCCATCAAGCCT 0.453000 29 53 0 0 0.002096 0 0 ZNF154 7710 broad.mit.edu 37 19 58216322 58216322 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:58216322G>A ENST00000512439.2 - 2 255 c.59C>T c.(58-60)gCc>gTc p.A20V AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.A20V|AC003006.7_ENST00000599221.1_Intron Q13106 ZN154_HUMAN zinc finger protein 154 20 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A20V(2) endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAAGTGTACGGCCACATCTTC 0.512000 42 87 0 0 0.003610 0 0 SLC35B4 84912 broad.mit.edu 37 7 133981213 133981213 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:133981213A>G ENST00000378509.4 - 9 978 c.679T>C c.(679-681)Tat>Cat p.Y227H NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 227 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 GGAATTTCATATAACTCTGTA 0.413000 5 46 0 0 0.000602 0 0 OR4M1 441670 broad.mit.edu 37 14 20248610 20248610 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:20248610C>T ENST00000315957.4 + 1 210 c.129C>T c.(127-129)atC>atT p.I43I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 43 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) CAGGAAATATCCTTATCATTT 0.418000 79 169 0 0 0.003610 0 0 CTNND2 1501 broad.mit.edu 37 5 10988308 10988308 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:10988308C>T ENST00000304623.8 - 20 3447 c.3258G>A c.(3256-3258)agG>agA p.R1086R CTNND2_ENST00000511377.1_Silent_p.R995R|CTNND2_ENST00000503622.1_Silent_p.R749R|CTNND2_ENST00000359640.2_Silent_p.R1028R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.R653R NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1086 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 AGTCTGTTTTCCTTTCTTTGA 0.527000 OREG0016517 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 70 0 0 0.007291 0 0 SLC45A3 85414 broad.mit.edu 37 1 205628574 205628574 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:205628574G>A ENST00000367145.3 - 5 1745 c.1450C>T c.(1450-1452)Ccg>Tcg p.P484S SLC45A3_ENST00000460934.1_5'UTR NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 484 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCCCGGCCCGGAACCACCCTG 0.667000 T """ETV1, ETV5, ELK4, ERG""" prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 29 0 0 0.006214 0 0 LILRB1 10859 broad.mit.edu 37 19 55143453 55143453 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:55143453C>T ENST00000396331.1 + 6 783 c.426C>T c.(424-426)atC>atT p.I142I LILRB1_ENST00000396321.2_Silent_p.I142I|LILRB1_ENST00000427581.2_Silent_p.I178I|LILRB1_ENST00000418536.2_Silent_p.I142I|LILRB1_ENST00000396327.3_Silent_p.I142I|LILRB1_ENST00000448689.1_Silent_p.I142I|LILRB1_ENST00000396332.4_Silent_p.I142I|LILRB1_ENST00000324602.7_Silent_p.I142I|LILRB1_ENST00000434867.2_Silent_p.I142I|LILRB1_ENST00000396317.1_Silent_p.I142I|LILRB1_ENST00000396315.1_Silent_p.I142I NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 142 Ig-like C2-type 2. I -> T (in dbSNP:rs1061680). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.I142I(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGAATGTAATCCTCCAGTGTG 0.552000 HNSCC(37;0.09) 19 38 0 0 0.007413 0 0 NEFM 4741 broad.mit.edu 37 8 24773142 24773142 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:24773142G>A ENST00000221166.5 + 2 1887 c.1105G>A c.(1105-1107)Gag>Aag p.E369K NEFM_ENST00000437366.2_Missense_Mutation_p.E369K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_5'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E369K P07197 NFM_HUMAN neurofilament, medium polypeptide 369 Coil 2B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 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) GCTGGAAAATGAGCTTCGGGG 0.512000 32 67 0 0 0.002445 0 0 OS9 10956 broad.mit.edu 37 12 58113910 58113910 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:58113910C>T ENST00000315970.7 + 13 1670 c.1629C>T c.(1627-1629)gtC>gtT p.V543V RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000389146.6_Silent_p.V528V|OS9_ENST00000389142.5_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 543 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GAGTCCGGGTCCGGGTCACCA 0.577000 34 76 0 0 0.006230 0 0 CABS1 85438 broad.mit.edu 37 4 71201181 71201181 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:71201181A>C ENST00000273936.4 + 1 484 c.425A>C c.(424-426)gAa>gCa p.E142A NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 142 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATAGCAAAAGAAGATATCCTC 0.403000 22 33 0 0 0.004656 0 0 CSF2RA 1438 broad.mit.edu 37 X 1428398 1428398 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:1428398G>A ENST00000355432.3 + 11 1199 c.1050G>A c.(1048-1050)atG>atA p.M350I CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR NM_172246.2 NP_758449.1 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 0 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) GGAATGGCATGGACATCTCCG 0.468000 64 151 0 0 0.003610 0 0 THEMIS 387357 broad.mit.edu 37 6 128134804 128134804 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:128134804G>A ENST00000368250.1 - 5 1243 c.745C>T c.(745-747)Cct>Tct p.P249S THEMIS_ENST00000543064.1_Missense_Mutation_p.P328S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P293S|THEMIS_ENST00000368248.2_Missense_Mutation_p.P328S Q8N1K5 THMS1_HUMAN thymocyte selection associated 328 CABIT 1. 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 TGTCTTTTAGGAAAATTGCTT 0.458000 19 91 0 0 0.001523 0 0 CEP112 201134 broad.mit.edu 37 17 64092741 64092741 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:64092741G>A ENST00000392769.2 - 7 870 c.652C>T c.(652-654)Cct>Tct p.P218S CEP112_ENST00000535342.2_Missense_Mutation_p.P218S|CEP112_ENST00000537949.1_Intron NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 218 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 AGGTATCGAGGATTTTCTATC 0.279000 4 39 0 0 0.000602 0 0 EMCN 51705 broad.mit.edu 37 4 101401114 101401114 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:101401114C>T ENST00000296420.4 - 2 325 c.147G>A c.(145-147)caG>caA p.Q49Q EMCN_ENST00000305864.3_Silent_p.Q49Q|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Silent_p.Q49Q NM_001159694.1|NM_016242.3 NP_001153166.1|NP_057326.2 Q9ULC0 MUCEN_HUMAN endomucin 49 Thr-rich. extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) CAACATTTTTCTGTAATGATT 0.299000 14 27 0 0 0.004990 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953432 8953432 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:8953432C>T ENST00000595891.1 + 3 309 c.78C>T c.(76-78)atC>atT p.I26I MBD3L1_ENST00000305625.2_Silent_p.I26I Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 26 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 GCACCTCAATCCCTTTGAGAA 0.468000 17 25 0 0 0.006122 0 0 CYP4B1 1580 broad.mit.edu 37 1 47283644 47283644 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:47283644G>A ENST00000271153.4 + 10 1248 c.1212G>A c.(1210-1212)ctG>ctA p.L404L CYP4B1_ENST00000371919.4_Silent_p.L390L|CYP4B1_ENST00000452782.2_Silent_p.L242L|CYP4B1_ENST00000371923.4_Silent_p.L405L P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 404 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CAGGAAGCCTGATCTCTATGC 0.567000 58 114 0 0 0.003610 0 0 MED12L 116931 broad.mit.edu 37 3 151105621 151105621 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:151105621G>A ENST00000474524.1 + 35 5045 c.5007G>A c.(5005-5007)caG>caA p.Q1669Q MED12L_ENST00000273432.4_Silent_p.Q1529Q NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1669 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTACGAAGCAGAAGGTGTCCC 0.522000 35 55 0 0 0.006999 0 0 FBXL4 26235 broad.mit.edu 37 6 99347336 99347336 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:99347336G>A ENST00000369244.2 - 7 1553 c.1125C>T c.(1123-1125)tcC>tcT p.S375S FBXL4_ENST00000229971.1_Silent_p.S375S Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 375 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) GTACTAATTCGGATCCACAAA 0.338000 14 22 0 0 0.001855 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766990 77766990 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:77766990G>A ENST00000521891.2 + 10 8281 c.7833G>A c.(7831-7833)acG>acA p.T2611T ZFHX4_ENST00000518282.1_Silent_p.T2585T|ZFHX4_ENST00000050961.6_Silent_p.T2566T|ZFHX4_ENST00000455469.2_Silent_p.T2566T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2566 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) TGAGAACCACGATCACCCCGG 0.423000 HNSCC(33;0.089) 14 22 0 0 0.003163 0 0 GRIA2 2891 broad.mit.edu 37 4 158281129 158281129 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:158281129G>A ENST00000296526.7 + 13 2450 c.2125G>A c.(2125-2127)Gaa>Aaa p.E709K GRIA2_ENST00000393815.2_Missense_Mutation_p.E662K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E662K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E662K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E709K NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 709 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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 NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GACTACGGCCGAAGGGGTGGC 0.498000 17 45 0 0 0.008871 0 0 MYCBP2 23077 broad.mit.edu 37 13 77671906 77671906 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr13:77671906G>A ENST00000407578.2 - 56 9649 c.9383C>T c.(9382-9384)cCt>cTt p.P3128L MYCBP2_ENST00000357337.6_Missense_Mutation_p.P3090L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P3090L|MYCBP2-AS1_ENST00000593933.1_RNA NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3090 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTCATGCAGAGGTGGTTCCTT 0.388000 30 62 0 0 0.002096 0 0 CCDC54 84692 broad.mit.edu 37 3 107097085 107097085 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:107097085G>A ENST00000261058.1 + 1 898 c.651G>A c.(649-651)atG>atA p.M217I NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 217 p.M217I(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 CTCCCCAAATGAAAACTCTGA 0.393000 23 21 0 0 0.002299 0 0 SEPHS1 22929 broad.mit.edu 37 10 13380726 13380726 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:13380726G>A ENST00000327347.5 - 3 651 c.276C>T c.(274-276)atC>atT p.I92I SEPHS1_ENST00000378614.4_Silent_p.I92I|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000545675.1_Silent_p.I92I|SEPHS1_ENST00000537130.1_Silent_p.I25I NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 92 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 GGTCGTCTACGATCGGGTAAA 0.463000 23 92 0 0 0.002780 0 0 RNF213 57674 broad.mit.edu 37 17 78358865 78358865 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:78358865C>A ENST00000582970.1 + 60 14492 c.14349C>A c.(14347-14349)ttC>ttA p.F4783L CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4832L|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.F2856L|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGGTAAAGTTCCTGCCTGAGA 0.453000 23 45 1.64293e-13 1.83209e-13 0.003330 1 0 TULP1 7287 broad.mit.edu 37 6 35473911 35473911 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:35473911C>T ENST00000229771.6 - 10 947 c.868G>A c.(868-870)Gaa>Aaa p.E290K TULP1_ENST00000322263.4_Missense_Mutation_p.E237K NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 290 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 TCCCGGGGTTCGTCCACCTCC 0.697000 20 39 0 0 0.002780 0 0 DENND1A 57706 broad.mit.edu 37 9 126144301 126144301 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:126144301G>A ENST00000373624.2 - 22 2641 c.2440C>T c.(2440-2442)Caa>Taa p.Q814* DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.Q825*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.Q599* NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 814 Pro-rich. 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 AAGCTGAATTGGGGGGTGAAT 0.682000 10 3 0 0 0.008291 0 0 OR2A2 442361 broad.mit.edu 37 7 143806807 143806807 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:143806807C>T ENST00000408979.2 + 1 201 c.132C>T c.(130-132)atC>atT p.I44I NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I44I(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) ATGGGGTCATCTTTGGGATTA 0.507000 71 118 0 0 0.003610 0 0 PHKA1 5255 broad.mit.edu 37 X 71804146 71804146 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:71804146C>T ENST00000373545.3 - 30 3562 c.3124G>A c.(3124-3126)Gga>Aga p.G1042R PHKA1_ENST00000373542.4_Missense_Mutation_p.G1084R|PHKA1_ENST00000339490.3_Missense_Mutation_p.G1071R|PHKA1_ENST00000541944.1_Missense_Mutation_p.G1012R|PHKA1_ENST00000373539.3_Missense_Mutation_p.G1101R P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1084 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) ACAGAAAGTCCGTGACACTGC 0.418000 25 8 0 0 0.005443 0 0 AANAT 15 broad.mit.edu 37 17 74464865 74464865 + Missense_Mutation SNP G G A rs139841386 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:74464865G>A ENST00000250615.3 + 5 1179 c.172G>A c.(172-174)Gcc>Acc p.A58T AANAT_ENST00000392492.3_Missense_Mutation_p.A13T NM_001166579.1 NP_001160051.1 Q16613 SNAT_HUMAN aralkylamine N-acetyltransferase 13 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 GAAACCTGAGGCCCCACGTCT 0.662000 11 11 0 0 0.001855 0 0 XPOT 11260 broad.mit.edu 37 12 64828638 64828638 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:64828638C>T ENST00000332707.5 + 21 3163 c.2634C>T c.(2632-2634)ttC>ttT p.F878F NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 878 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CCGCATGTTTCCTAGCACCTT 0.378000 33 63 0 0 0.006230 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54628550 54628550 + Missense_Mutation SNP G G C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:54628550G>C ENST00000355221.3 - 13 1931 c.1372C>G c.(1372-1374)Ccc>Gcc p.P458A ATP6V1H_ENST00000396774.2_Missense_Mutation_p.P476A|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.P436A|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.P476A|ATP6V1H_ENST00000523899.1_5'UTR NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 476 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) GCGGTCTGGGGCTGCTCGGAC 0.493000 20 29 0 0 0.001882 0 0 COL11A2 1302 broad.mit.edu 37 6 33157208 33157208 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:33157208G>A ENST00000341947.2 - 2 348 c.121C>T c.(121-123)Ccc>Tcc p.P41S COL11A2_ENST00000374713.1_Missense_Mutation_p.P41S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P41S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P41S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P41S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P41S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P41S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P41S|COL11A2_ENST00000395194.1_Missense_Mutation_p.P41S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 41 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGGAGGGAGGGGAACCTCAGG 0.617000 28 41 0 0 0.007291 0 0 PGM2L1 283209 broad.mit.edu 37 11 74053589 74053589 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:74053589G>A ENST00000298198.4 - 12 1860 c.1549C>T c.(1549-1551)Cca>Tca p.P517S NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 517 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) CAAAATTTTGGATATTCTTTT 0.323000 58 30 0 0 0.003610 0 0 CPE 1363 broad.mit.edu 37 4 166388870 166388870 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:166388870C>T ENST00000402744.4 + 3 815 c.535C>T c.(535-537)Cga>Tga p.R179* NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 179 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTTTGTGGGTCGAAGCAATGC 0.388000 11 32 0 0 0.000978 0 0 MAPK10 5602 broad.mit.edu 37 4 87023061 87023061 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:87023061C>T ENST00000395169.3 - 7 1156 c.436G>A c.(436-438)Gga>Aga p.G146R MAPK10_ENST00000361569.2_Missense_Mutation_p.G184R|MAPK10_ENST00000449047.2_Missense_Mutation_p.G39R|MAPK10_ENST00000395160.3_Missense_Mutation_p.G39R|MAPK10_ENST00000359221.3_Missense_Mutation_p.G184R|MAPK10_ENST00000395161.2_Missense_Mutation_p.G184R|MAPK10_ENST00000395157.3_Missense_Mutation_p.G39R|MAPK10_ENST00000395166.1_Missense_Mutation_p.G146R NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 184 Protein kinase. 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|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|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TGAATAATTCCAGCAGAATGG 0.398000 34 83 0 0 0.002096 0 0 PIWIL1 9271 broad.mit.edu 37 12 130830393 130830393 + Missense_Mutation SNP A A C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:130830393A>C ENST00000245255.3 + 4 558 c.286A>C c.(286-288)Aac>Cac p.N96H NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 96 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TACAAGGCAGAACCTAGACCA 0.393000 18 38 0 0 0.008871 0 0 LTB4R2 56413 broad.mit.edu 37 14 24780543 24780543 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:24780543C>T ENST00000528054.1 + 1 2383 c.766C>T c.(766-768)Ctg>Ttg p.L256L CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.L225L|CIDEB_ENST00000555817.1_5'UTR|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.L225L Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 256 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) ggtgggccggcTGGTGAGCGC 0.731000 8 7 0 0 0.003080 0 0 SH3BP1 23616 broad.mit.edu 37 22 38049819 38049819 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:38049819C>T ENST00000599616.1 + 15 1440 c.1440C>T c.(1438-1440)tcC>tcT p.S480S Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Silent_p.S544S Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 544 signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GACCAGCCTCCCCCAAGGTCA 0.632000 14 23 0 0 0.004007 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211350 50211350 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:50211350C>T ENST00000002829.3 + 3 721 c.237C>T c.(235-237)tcC>tcT p.S79S SEMA3F_ENST00000413852.1_Silent_p.S11S|SEMA3F_ENST00000434342.1_Silent_p.S79S NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 79 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACGTGCTGTCCCTGGACCTGC 0.607000 23 40 0 0 0.001882 0 0 GXYLT1 283464 broad.mit.edu 37 12 42481745 42481745 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:42481745G>A ENST00000398675.3 - 8 1398 c.1166C>T c.(1165-1167)tCt>tTt p.S389F GXYLT1_ENST00000280876.6_Missense_Mutation_p.S358F NM_001099650.1|NM_173601.1 NP_001093120.1|NP_775872.1 Q4G148 GXLT1_HUMAN glucoside xylosyltransferase 1 389 O-glycan processing integral to membrane UDP-xylosyltransferase activity kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 ATCTTCAAAAGAACACTAGAG 0.254000 16 31 0 0 0.006122 0 0 SDPR 8436 broad.mit.edu 37 2 192701381 192701381 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:192701381C>T ENST00000304141.4 - 2 875 c.546G>A c.(544-546)ggG>ggA p.G182G NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 182 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCTCCTCCTTCCCTTCCACGG 0.522000 9 42 0 0 0.008291 0 0 UBA1 7317 broad.mit.edu 37 X 47065792 47065792 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:47065792C>T ENST00000335972.6 + 16 2070 c.1887C>T c.(1885-1887)atC>atT p.I629I UBA1_ENST00000377351.4_Silent_p.I629I|UBA1_ENST00000490869.1_3'UTR NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 629 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AGAAGTCCATCCCCATCTGTA 0.572000 23 8 0 0 0.006320 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18573894 18573894 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:18573894C>T ENST00000433979.1 + 16 2328 c.2212C>T c.(2212-2214)Cgt>Tgt p.R738C PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779C NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 738 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TCAAGAAATTCGTAAAGTGGC 0.363000 27 54 0 0 0.007291 0 0 P2RY2 5029 broad.mit.edu 37 11 72946081 72946081 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:72946081C>T ENST00000311131.2 + 3 1344 c.877C>T c.(877-879)Ccg>Tcg p.P293S P2RY2_ENST00000393597.2_Missense_Mutation_p.P293S|P2RY2_ENST00000393596.2_Missense_Mutation_p.P293S NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 293 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GGTTACCCGGCCGCTGGCCAG 0.627000 15 9 0 0 0.003163 0 0 MUC17 140453 broad.mit.edu 37 7 100686443 100686443 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:100686443C>T ENST00000306151.4 + 3 11810 c.11746C>T c.(11746-11748)Ccc>Tcc p.P3916S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3916 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) TGCCTCAACTCCCACAATTCC 0.498000 52 80 0 0 0.003610 0 0 AKR1C3 8644 broad.mit.edu 37 10 5144305 5144305 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:5144305C>T ENST00000380554.3 + 6 1235 c.583C>T c.(583-585)Ccg>Tcg p.P195S AKR1C3_ENST00000605149.1_Missense_Mutation_p.P172S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.P76S NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 195 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) AGAATGTCATCCGTATTTCAA 0.358000 18 38 0 0 0.001523 0 0 ITGA1 3672 broad.mit.edu 37 5 52229771 52229771 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:52229771C>T ENST00000282588.6 + 23 3367 c.2909C>T c.(2908-2910)cCt>cTt p.P970L CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 970 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) GAGACAGTCCCTGAAGTTATT 0.274000 21 38 0 0 0.001786 0 0 MYH6 4624 broad.mit.edu 37 14 23866401 23866401 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:23866401G>A ENST00000405093.3 - 17 2098 c.2028C>T c.(2026-2028)atC>atT p.I676I MYH6_ENST00000356287.3_Silent_p.I676I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 676 Actin-binding.|Myosin head-like. 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) GCTCATTGGGGATGATGCAAC 0.552000 53 120 0 0 0.003610 0 0 WNK1 65125 broad.mit.edu 37 12 977792 977792 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:977792T>C ENST00000537687.1 + 9 3543 c.2900T>C c.(2899-2901)tTt>tCt p.F967S WNK1_ENST00000530271.2_Missense_Mutation_p.F1052S|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.F266S|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AACTGTGTATTTGAATTTCAT 0.438000 16 22 0 0 0.007413 0 0 AHDC1 27245 broad.mit.edu 37 1 27878454 27878454 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:27878454G>A ENST00000374011.2 - 6 1141 c.173C>T c.(172-174)tCc>tTc p.S58F AHDC1_ENST00000247087.5_Missense_Mutation_p.S58F|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 58 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TGGGTTCTCGGAGAAGGCGTG 0.756000 8 15 0 0 0.003080 0 0 CCDC147 159686 broad.mit.edu 37 10 106152114 106152114 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:106152114G>A ENST00000369704.3 + 10 1623 c.1489G>A c.(1489-1491)Gac>Aac p.D497N NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 497 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) TGTGAGATCAGACAGAAATCT 0.299000 47 51 0 0 0.003610 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10866644 10866644 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:10866644C>T ENST00000381661.3 + 3 255 c.146C>T c.(145-147)tCc>tTc p.S49F ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.S49F NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 49 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) ACCTTGGATTCCCTGGTTGGC 0.458000 10 51 0 0 0.001368 0 0 OR51I2 390064 broad.mit.edu 37 11 5474883 5474883 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:5474883C>T ENST00000341449.2 + 1 246 c.165C>T c.(163-165)ctC>ctT p.L55L AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCCCAGCCTCCATGAGCCCA 0.572000 36 60 0 0 0.004878 0 0 ZNF436 80818 broad.mit.edu 37 1 23688594 23688594 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:23688594G>A ENST00000314011.4 - 4 1417 c.1281C>T c.(1279-1281)ttC>ttT p.F427F ZNF436_ENST00000374608.3_Silent_p.F427F|ZNF436_ENST00000374609.1_Intron NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGCTCTGGGTGAAACCTTTCC 0.483000 52 82 0 0 0.003610 0 0 CDH4 1002 broad.mit.edu 37 20 60427927 60427927 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:60427927G>A ENST00000360469.5 + 6 938 c.850G>A c.(850-852)Ggc>Agc p.G284S CDH4_ENST00000543233.1_Missense_Mutation_p.G210S NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 284 Cadherin 2. G -> C (in Ref. 1; AAA35627). adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGTCTACAACGGCTCCGTGGA 0.587000 56 100 0 0 0.003610 0 0 DSG3 1830 broad.mit.edu 37 18 29045359 29045359 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:29045359G>A ENST00000257189.4 + 10 1433 c.1350G>A c.(1348-1350)atG>atA p.M450I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 450 Cadherin 4. 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) TCAAAAATATGAACCGAGATT 0.313000 15 52 0 0 0.002450 0 0 AK7 122481 broad.mit.edu 37 14 96916185 96916185 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:96916185G>A ENST00000267584.4 + 9 961 c.917G>A c.(916-918)aGa>aAa p.R306K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 306 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) AAAATACCCAGAGAAAATGCA 0.313000 7 19 0 0 0.001984 0 0 MEGF8 1954 broad.mit.edu 37 19 42880018 42880018 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:42880018C>T ENST00000334370.4 + 41 8063 c.7428C>T c.(7426-7428)ccC>ccT p.P2476P MEGF8_ENST00000251268.6_Silent_p.P2543P|MEGF8_ENST00000378073.4_Silent_p.P137P NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2543 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) ATGGTGGGCCCCGGGGGGCTG 0.706000 12 10 0 0 0.001368 0 0 SLC25A24 29957 broad.mit.edu 37 1 108700165 108700165 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:108700165C>T ENST00000565488.1 - 5 807 c.588G>A c.(586-588)agG>agA p.R196R SLC25A24_ENST00000370041.4_Silent_p.R177R NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 196 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) CCAAAAGCTGCCTCCACCATT 0.443000 14 77 0 0 0.002450 0 0 SETD2 29072 broad.mit.edu 37 3 47158225 47158225 + Nonsense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:47158225G>A ENST00000409792.3 - 4 4516 c.4474C>T c.(4474-4476)Cga>Tga p.R1492* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1492 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R989*(2)|p.R1492*(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTAATATCTCGATGAGATTTA 0.313000 """N, F, S, Mis""" clear cell renal carcinoma 22 36 0 0 0.002299 0 0 TSIX 9383 broad.mit.edu 37 X 73045886 73045886 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:73045886C>T ENST00000604411.1 + 0 33847 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTCGCTTTGTCCCAGGCACAG 0.517000 83 23 0 0 0.003610 0 0 ANKRD35 148741 broad.mit.edu 37 1 145555774 145555774 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:145555774C>T ENST00000355594.4 + 2 209 c.122C>T c.(121-123)tCc>tTc p.S41F ANKRD35_ENST00000544626.1_Missense_Mutation_p.S41F NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 41 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCCCTGGCCTCCAGGAAATCT 0.622000 12 32 0 0 0.001855 0 0 OR8H1 219469 broad.mit.edu 37 11 56057983 56057983 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:56057983G>A ENST00000313022.2 - 1 583 c.556C>T c.(556-558)Ctg>Ttg p.L186L NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) ATGCAGGACAGAGCTAAAATT 0.428000 9 48 0 0 0.008291 0 0 ZNF430 80264 broad.mit.edu 37 19 21239839 21239839 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:21239839T>A ENST00000261560.5 + 5 906 c.725T>A c.(724-726)tTt>tAt p.F242Y NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 GGTAAAGTCTTTAACTGGTTC 0.358000 17 30 0 0 0.004007 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136409658 136409658 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:136409658C>T ENST00000393061.3 + 8 1508 c.1076C>T c.(1075-1077)tCc>tTc p.S359F ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.S250F|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.S250F Q86TH1 ATL2_HUMAN ADAMTS-like 2 250 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) AGGAAGAAGTCCGCTGACGTG 0.582000 25 31 0 0 0.003954 0 0 OR3A3 8392 broad.mit.edu 37 17 3324814 3324814 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:3324814G>A ENST00000291231.1 + 1 953 c.953G>A c.(952-954)cGa>cAa p.R318Q NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 GTGGGGAAGCGATCACTGACC 0.453000 39 28 0 0 0.008740 0 0 CCSER2 54462 broad.mit.edu 37 10 86131045 86131045 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:86131045C>T ENST00000224756.8 + 2 422 c.237C>T c.(235-237)gtC>gtT p.V79V CCSER2_ENST00000359979.4_Silent_p.V79V|CCSER2_ENST00000372088.2_Silent_p.V79V NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 CACAAGGTGTCGAAGAGCCTA 0.333000 10 23 0 0 0.006214 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30101626 30101626 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:30101626C>T ENST00000449726.1 + 11 1562 c.1212C>T c.(1210-1212)gcC>gcT p.A404A PLEKHA8_ENST00000396257.2_Silent_p.A404A|PLEKHA8_ENST00000396259.1_Silent_p.A404A|PLEKHA8_ENST00000258679.7_Silent_p.A404A NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 404 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CGACTGAAGCCCTCTTGTGGC 0.453000 OREG0017934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 41 0 0 0.001523 0 0 DNAH11 8701 broad.mit.edu 37 7 21913052 21913052 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:21913052A>G ENST00000328843.6 + 75 12180 c.12149A>G c.(12148-12150)aAg>aGg p.K4050R DNAH11_ENST00000409508.3_Missense_Mutation_p.K4043R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4050 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 AATTCCATTAAGATCACTAAT 0.478000 Kartagener syndrome 26 46 0 0 0.006320 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626399 44626399 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:44626399C>T ENST00000576629.1 + 10 4389 c.3894C>T c.(3892-3894)atC>atT p.I1298I ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Silent_p.I1298I|ARL17A_ENST00000445552.2_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1298 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) CTAAACCAATCGTACATGCCA 0.418000 37 179 0 0 0.003610 0 0 PRF1 5551 broad.mit.edu 37 10 72358730 72358730 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:72358730G>A ENST00000441259.1 - 3 907 c.747C>T c.(745-747)ctC>ctT p.L249L PRF1_ENST00000373209.2_Silent_p.L249L NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 249 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CGTTGTCCGTGAGCCCTTCCA 0.637000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 29 30 0 0 0.002096 0 0 RECQL4 9401 broad.mit.edu 37 8 145741611 145741611 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:145741611G>A ENST00000428558.2 - 5 933 c.892C>T c.(892-894)Cct>Tct p.P298S RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 298 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TCCCCTGGAGGGTCTTCCTCA 0.662000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 16 31 0 0 0.004990 0 0 HSPA6 3310 broad.mit.edu 37 1 161495086 161495086 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:161495086C>T ENST00000309758.4 + 1 1051 c.638C>T c.(637-639)tCc>tTc p.S213F NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 213 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCGGTTCTCTCCATTGACGCT 0.597000 15 32 0 0 0.006122 0 0 C4orf26 152816 broad.mit.edu 37 4 76489606 76489606 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:76489606C>T ENST00000311623.4 + 2 385 c.350C>T c.(349-351)cCc>cTc p.P117L C4orf26_ENST00000435974.2_Missense_Mutation_p.P132S NM_001257072.1|NM_178497.3 NP_001244001.1|NP_848592.2 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 117 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTATTTCCCCAGAAGAAGA 0.433000 84 151 0 0 0.003610 0 0 C8A 731 broad.mit.edu 37 1 57347273 57347273 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:57347273G>A ENST00000361249.3 + 5 716 c.620G>A c.(619-621)cGg>cAg p.R207Q NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 207 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 AAATACTTTCGGAAACCCTAC 0.498000 30 47 0 0 0.001786 0 0 TRMT44 152992 broad.mit.edu 37 4 8469918 8469918 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:8469918C>T ENST00000389737.4 + 9 1772 c.1772C>T c.(1771-1773)cCc>cTc p.P591L TRMT44_ENST00000513449.2_Missense_Mutation_p.P350L NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) GGATTTCATCCCAGAGAAAAG 0.567000 14 33 0 0 0.001855 0 0 PDE11A 50940 broad.mit.edu 37 2 178936654 178936654 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:178936654T>C ENST00000286063.5 - 1 828 c.511A>G c.(511-513)Att>Gtt p.I171V PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 171 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GCACTGAGAATATGGGCTGTG 0.567000 Primary Pigmented Nodular Adrenocortical Disease, Familial 27 27 0 0 0.005443 0 0 RPTOR 57521 broad.mit.edu 37 17 78858875 78858875 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:78858875C>T ENST00000306801.3 + 17 2272 c.1910C>T c.(1909-1911)tCc>tTc p.S637F RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 637 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 ACGGACCACTCCACCACCATC 0.682000 10 9 0 0 0.000978 0 0 BRD3 8019 broad.mit.edu 37 9 136901263 136901263 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:136901263G>A ENST00000303407.7 - 10 2012 c.1827C>T c.(1825-1827)tcC>tcT p.S609S BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 609 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CGTCGGGGTTGGAGTCCCTGA 0.532000 T C15orf55 lethal midline carcinoma of young people 32 17 0 0 0.002445 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94913329 94913329 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:94913329G>A ENST00000289495.5 + 15 3392 c.e15-1 PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Splice_Site|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Splice_Site|PPP1R9A_ENST00000424654.1_Splice_Site NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 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) TCACAAAACAGGATCTTCAGA 0.433000 HNSCC(28;0.073) 13 29 0 0 0.001855 0 0 DNAH5 1767 broad.mit.edu 37 5 13871769 13871769 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:13871769C>T ENST00000265104.4 - 23 3606 c.3502G>A c.(3502-3504)Gaa>Aaa p.E1168K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1168 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E1168K(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) GACTCAAATTCAGAAAGCAAG 0.403000 Kartagener syndrome 25 36 0 0 0.002780 0 0 PARP6 56965 broad.mit.edu 37 15 72543556 72543556 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:72543556G>A ENST00000569795.1 - 17 1987 c.1300C>T c.(1300-1302)Ctc>Ttc p.L434F PARP6_ENST00000287196.9_Missense_Mutation_p.L434F|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.L434F Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 434 PARP catalytic. NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 ACCCTGCTGAGAGGTAGTTTG 0.413000 41 55 0 0 0.003610 0 0 C1S 716 broad.mit.edu 37 12 7171668 7171668 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:7171668C>T ENST00000406697.1 + 8 1117 c.489C>T c.(487-489)ttC>ttT p.F163F C1S_ENST00000360817.5_Silent_p.F163F|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Silent_p.F163F P09871 C1S_HUMAN complement component 1, s subcomponent 163 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CGGAATATTTCCTCCATGATG 0.463000 38 54 0 0 0.006999 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841876 8841876 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:8841876C>T ENST00000324060.2 + 1 561 c.486C>T c.(484-486)atC>atT p.I162I NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 162 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 AGACCTCCATCACCCTGCATT 0.552000 68 87 0 0 0.003610 0 0 MUC7 4589 broad.mit.edu 37 4 71346720 71346720 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:71346720C>T ENST00000413702.1 + 4 547 c.259C>T c.(259-261)Cct>Tct p.P87S MUC7_ENST00000304887.5_Missense_Mutation_p.P87S|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P87S NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 87 extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ATTCCCAAATCCTCACCAGCC 0.458000 35 48 0 0 0.002445 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260137 90260137 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:90260137C>T ENST00000471857.1 + 0 421 AAAGTGGGGTCCCATCAAGGT 0.468000 24 96 0 0 0.003954 0 0 HTR3B 9177 broad.mit.edu 37 11 113816638 113816638 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:113816638G>A ENST00000260191.2 + 9 1362 c.1105G>A c.(1105-1107)Gga>Aga p.G369R HTR3B_ENST00000537778.1_Missense_Mutation_p.G358R NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 369 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CTCGCTGTATGGAGAGCACCT 0.547000 9 25 0 0 0.004482 0 0 MYO1A 4640 broad.mit.edu 37 12 57441875 57441875 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:57441875T>A ENST00000442789.2 - 4 415 c.128A>T c.(127-129)aAt>aTt p.N43I MYO1A_ENST00000300119.3_Missense_Mutation_p.N43I NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 43 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GATCACCACATTCCCAATGTA 0.502000 20 35 0 0 0.002780 0 0 XIRP2 129446 broad.mit.edu 37 2 168104646 168104646 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:168104646G>A ENST00000409195.1 + 9 6833 c.6744G>A c.(6742-6744)ttG>ttA p.L2248L XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2026L|XIRP2_ENST00000295237.9_Silent_p.L2248L|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2073 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 ATGTTCACTTGAAAAGCCAGG 0.368000 9 18 0 0 0.004482 0 0 CCDC147 159686 broad.mit.edu 37 10 106214279 106214279 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:106214279G>A ENST00000369704.3 + 18 2744 c.2610G>A c.(2608-2610)atG>atA p.M870I NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 870 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) CAACCAAAATGACGTTCTAAC 0.458000 20 63 0 0 0.007413 0 0 COG7 91949 broad.mit.edu 37 16 23428399 23428399 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:23428399G>A ENST00000307149.5 - 9 1366 c.1181C>T c.(1180-1182)tCc>tTc p.S394F NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 394 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) CTTGTTCACGGAGTGGCTCAG 0.532000 14 32 0 0 0.003163 0 0 DNAAF1 123872 broad.mit.edu 37 16 84193376 84193376 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:84193376G>A ENST00000378553.5 + 6 962 c.838G>A c.(838-840)Gat>Aat p.D280N DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.D280N NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 280 LRRCT. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ATACCTGGATGATAGACCAGT 0.368000 9 36 0 0 0.000978 0 0 HPSE2 60495 broad.mit.edu 37 10 100249824 100249824 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:100249824A>G ENST00000370552.3 - 10 1509 c.1450T>C c.(1450-1452)Tgc>Cgc p.C484R HPSE2_ENST00000370546.1_Missense_Mutation_p.C484R|HPSE2_ENST00000370549.1_Missense_Mutation_p.C426R|HPSE2_ENST00000404542.1_Missense_Mutation_p.C372R NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 484 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGGTTTGTGCAGTGAGCATAA 0.567000 28 119 0 0 0.001786 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48226561 48226561 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:48226561C>T ENST00000316878.6 - 3 1314 c.1312G>A c.(1312-1314)Gag>Aag p.E438K PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 438 Interacts with protein phosphatase 1 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 GGGTCCTCCTCCTCCGACAGC 0.716000 9 4 0 0 0.008291 0 0 KIF18B 146909 broad.mit.edu 37 17 43011361 43011361 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:43011361G>A ENST00000587309.1 - 7 1015 c.992C>T c.(991-993)tCc>tTc p.S331F KIF18B_ENST00000339151.4_Missense_Mutation_p.S331F|KIF18B_ENST00000590129.1_Missense_Mutation_p.S340F|KIF18B_ENST00000438933.2_Missense_Mutation_p.S331F|KIF18B_ENST00000593135.1_Missense_Mutation_p.S331F NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GGTCAGGCTGGAGGGGCTGAT 0.632000 6 21 0 0 0.001168 0 0 AFM 173 broad.mit.edu 37 4 74357600 74357600 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:74357600G>A ENST00000226355.3 + 8 948 c.855G>A c.(853-855)atG>atA p.M285I NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 285 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCAAGGTTATGAACCATATTT 0.373000 27 66 0 0 0.002096 0 0 ARMC4 55130 broad.mit.edu 37 10 28223958 28223958 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:28223958C>T ENST00000305242.5 - 16 2568 c.2476G>A c.(2476-2478)Gta>Ata p.V826I ARMC4_ENST00000545014.1_Missense_Mutation_p.V351I|ARMC4_ENST00000537576.1_Missense_Mutation_p.V518I NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 826 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 TCAGGTTCTACTGCACAAGCA 0.423000 43 54 0 0 0.002852 0 0 HECTD3 79654 broad.mit.edu 37 1 45469358 45469358 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:45469358G>A ENST00000372172.4 - 20 2555 c.2484C>T c.(2482-2484)ttC>ttT p.F828F HECTD3_ENST00000372168.3_Silent_p.F438F|HECTD3_ENST00000486132.1_5'UTR NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 828 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) AGTGTGGCAGGAAGAGGGTGC 0.602000 28 80 0 0 0.002445 0 0 OR8B4 283162 broad.mit.edu 37 11 124294171 124294171 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:124294171G>A ENST00000356130.3 - 1 618 c.597C>T c.(595-597)ttC>ttT p.F199F NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 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;0.0279) CAACAACAATGAAAAATACCA 0.473000 6 6 0 0 0.001168 0 0 SEC31B 25956 broad.mit.edu 37 10 102267248 102267248 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:102267248G>A ENST00000370345.3 - 7 813 c.716C>T c.(715-717)cCc>cTc p.P239L NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000370329.5_Missense_Mutation_p.P242L|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000451524.1_Missense_Mutation_p.P239L|SEC31B_ENST00000535773.1_Missense_Mutation_p.P82L NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 239 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTGAATCACGGGAAGTCGATC 0.562000 17 66 0 0 0.006122 0 0 TKTL2 84076 broad.mit.edu 37 4 164393863 164393863 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:164393863G>A ENST00000280605.3 - 1 1184 c.1024C>T c.(1024-1026)Ctg>Ttg p.L342L NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 342 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) TCACCACTCAGaacaataact 0.428000 40 62 0 0 0.002222 0 0 TFPI 7035 broad.mit.edu 37 2 188349701 188349701 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:188349701G>A ENST00000233156.3 - 5 666 c.372C>T c.(370-372)ttC>ttT p.F124F AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Silent_p.F124F|TFPI_ENST00000392365.1_Silent_p.F124F|TFPI_ENST00000339091.4_Silent_p.F124F NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 124 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) CCAAAAAGCAGAAATCTGGCT 0.289000 7 28 0 0 0.004482 0 0 MYH13 8735 broad.mit.edu 37 17 10224979 10224979 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10224979G>A ENST00000418404.3 - 23 3144 c.2981C>T c.(2980-2982)tCc>tTc p.S994F MYH13_ENST00000252172.4_Missense_Mutation_p.S994F|MYH13_ENST00000570743.1_Missense_Mutation_p.S994F|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 994 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGTCAATTTGGAAATGTTTTC 0.373000 23 13 0 0 0.002299 0 0 FAM86EP 348926 broad.mit.edu 37 4 3948364 3948364 + RNA SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:3948364C>T ENST00000313946.8 - 0 1232 GGCCTCTGCCCGAGTTCCCCG 0.652000 5 3 0 0 0.000602 0 0 TP63 8626 broad.mit.edu 37 3 189586470 189586470 + Missense_Mutation SNP C C T rs147148566 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:189586470C>T ENST00000264731.3 + 8 1183 c.1094C>T c.(1093-1095)tCg>tTg p.S365L TP63_ENST00000449992.1_Missense_Mutation_p.S186L|TP63_ENST00000418709.2_Missense_Mutation_p.S365L|TP63_ENST00000437221.1_Missense_Mutation_p.S271L|TP63_ENST00000320472.5_Missense_Mutation_p.S365L|TP63_ENST00000392463.2_Missense_Mutation_p.S271L|TP63_ENST00000354600.5_Missense_Mutation_p.S271L|TP63_ENST00000382063.4_Missense_Mutation_p.S280L|TP63_ENST00000392461.3_Missense_Mutation_p.S271L|TP63_ENST00000392460.3_Missense_Mutation_p.S365L|TP63_ENST00000440651.2_Missense_Mutation_p.S365L|TP63_ENST00000456148.1_Missense_Mutation_p.S271L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 365 Interaction with HIPK2. 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 p.S365L(3) 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) CAGCAAGTTTCGGACAGTACA 0.537000 HNSCC(45;0.13) 19 50 0 0 0.007413 0 0 HYDIN 54768 broad.mit.edu 37 16 70916787 70916787 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr16:70916787C>T ENST00000393567.2 - 60 10141 c.9991G>A c.(9991-9993)Gaa>Aaa p.E3331K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3331 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) GCATTGTTTTCGGTCACGAAG 0.512000 32 30 0 0 0.002852 0 0 CYP4A11 1579 broad.mit.edu 37 1 47399643 47399643 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:47399643G>A ENST00000310638.4 - 9 1228 c.1197C>T c.(1195-1197)ttC>ttT p.F399F CYP4A11_ENST00000371905.1_Silent_p.F399F|CYP4A11_ENST00000371904.4_Silent_p.F400F|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_3'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 399 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GCCCATCAGGGAAGGTGACGG 0.577000 24 31 0 0 0.006320 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151214659 151214659 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:151214659C>T ENST00000409426.1 + 12 1833 c.1388C>T c.(1387-1389)tCc>tTc p.S463F PIP5K1A_ENST00000368890.4_Intron|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S475F|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S435F Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 475 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 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;0.181) CGAGCAGGCTCCAGTGGCAAC 0.522000 73 127 0 0 0.003610 0 0 WNK1 65125 broad.mit.edu 37 12 977790 977790 + Silent SNP A A T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr12:977790A>T ENST00000537687.1 + 9 3541 c.2898A>T c.(2896-2898)gtA>gtT p.V966V WNK1_ENST00000530271.2_Silent_p.V1051V|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.V265V|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCAACTGTGTATTTGAATTTC 0.443000 17 23 0 0 0.008871 0 0 IRAK2 3656 broad.mit.edu 37 3 10268076 10268076 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:10268076G>A ENST00000256458.4 + 10 1321 c.1231G>A c.(1231-1233)Ggc>Agc p.G411S NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 411 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GGTCCTCACGGGCATCCCTGC 0.537000 13 28 0 0 0.006122 0 0 COL13A1 1305 broad.mit.edu 37 10 71682509 71682509 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:71682509G>A ENST00000356340.3 + 21 1692 c.1156G>A c.(1156-1158)Gaa>Aaa p.E386K COL13A1_ENST00000517713.1_Missense_Mutation_p.E364K|COL13A1_ENST00000520267.1_Missense_Mutation_p.E329K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E335K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E364K|COL13A1_ENST00000398972.3_Missense_Mutation_p.E386K|COL13A1_ENST00000522165.1_Missense_Mutation_p.E367K|COL13A1_ENST00000398969.3_Missense_Mutation_p.E329K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E386K|COL13A1_ENST00000398978.3_Missense_Mutation_p.E386K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E374K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E357K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E367K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E386K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E364K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E364K Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 386 Triple-helical region 2 (COL2). 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) AGGCAGAGGGGAACCTGGCCC 0.612000 4 6 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179616458 179616458 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:179616458C>T ENST00000360870.5 - 46 10891 c.10669G>A c.(10669-10671)Gat>Aat p.D3557N TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3556 Ig-like 21. 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) TGGTGTAAATCACTCTCAGCT 0.408000 35 48 0 0 0.003755 0 0 YLPM1 56252 broad.mit.edu 37 14 75247117 75247117 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:75247117C>T ENST00000325680.7 + 3 1244 c.1120C>T c.(1120-1122)Cca>Tca p.P374S YLPM1_ENST00000238571.3_Missense_Mutation_p.P374S|YLPM1_ENST00000552421.1_Missense_Mutation_p.P374S NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GTCTGAGGACCCAGAAGAAGA 0.418000 39 98 0 0 0.006230 0 0 TBC1D2 55357 broad.mit.edu 37 9 100971310 100971310 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:100971310G>A ENST00000375066.5 - 9 1881 c.1790C>T c.(1789-1791)gCt>gTt p.A597V TBC1D2_ENST00000375063.1_Missense_Mutation_p.A137V|TBC1D2_ENST00000375064.1_Missense_Mutation_p.A597V|TBC1D2_ENST00000342112.5_Missense_Mutation_p.A379V|TBC1D2_ENST00000493589.2_5'UTR NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 597 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCGATCCACAGCCTCGAGGCC 0.647000 84 45 0 0 0.003610 0 0 CHRNA2 1135 broad.mit.edu 37 8 27319183 27319183 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:27319183C>T ENST00000407991.1 - 7 2161 c.1553G>A c.(1552-1554)gGc>gAc p.G518D CHRNA2_ENST00000520933.2_Missense_Mutation_p.G518D|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G503D NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 518 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) CAGAAAGAGGCCGATGGTCCC 0.567000 37 75 0 0 0.006999 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187798 42187798 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:42187798C>T ENST00000006724.3 - 3 825 c.624G>A c.(622-624)aaG>aaA p.K208K CEACAM7_ENST00000401731.1_Silent_p.K208K|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 208 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) CTATGTCATTCTTTGTGGCGC 0.537000 50 103 0 0 0.003610 0 0 KCNH5 27133 broad.mit.edu 37 14 63174777 63174777 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:63174777C>T ENST00000322893.7 - 11 2684 c.2416G>A c.(2416-2418)Gga>Aga p.G806R KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 806 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) TTTCCATTTCCATTCTTCATT 0.458000 36 94 0 0 0.004289 0 0 BLID 414899 broad.mit.edu 37 11 121986447 121986447 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr11:121986447C>T ENST00000560104.1 - 1 476 c.184G>A c.(184-186)Gaa>Aaa p.E62K NM_001001786.2 NP_001001786.2 Q8IZY5 BLID_HUMAN BH3-like motif containing, cell death inducer 62 apoptosis mitochondrion NS(1)|large_intestine(4)|lung(6)|pancreas(1) 12 Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101) AGCACTGTTTCCTTAGGCAAC 0.488000 OREG0021435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 38 0 0 0.003610 0 0 APC 324 broad.mit.edu 37 5 112154986 112154986 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:112154986C>T ENST00000457016.1 + 10 1637 c.1257C>T c.(1255-1257)acC>acT p.T419T APC_ENST00000257430.4_Silent_p.T419T|APC_ENST00000508376.2_Silent_p.T419T P25054 APC_HUMAN adenomatous polyposis coli 419 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ACTGTGAAACCTGTTGGGAGT 0.463000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 13 48 0 0 0.001855 0 0 RASAL2 9462 broad.mit.edu 37 1 178410699 178410699 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:178410699G>A ENST00000448150.3 + 7 1608 c.790G>A c.(790-792)Gga>Aga p.G264R RASAL2_ENST00000367649.3_Missense_Mutation_p.G282R|RASAL2_ENST00000462775.1_Missense_Mutation_p.G134R NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 134 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CTACTTAAGTGGAAGTAAATG 0.388000 18 25 0 0 0.008871 0 0 DNAH8 1769 broad.mit.edu 37 6 38877410 38877410 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:38877410C>T ENST00000359357.3 + 63 9233 c.8979C>T c.(8977-8979)ttC>ttT p.F2993F DNAH8_ENST00000449981.2_Silent_p.F3210F|DNAH8_ENST00000441566.1_Silent_p.F2957F 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 CCTCCTACTTCCTTTCAGACT 0.448000 36 53 0 0 0.005524 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090685 22090685 + RNA SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr14:22090685G>A ENST00000542354.1 + 0 357 AGCTCCAGATGAAAGACTCTG 0.458000 27 38 0 0 0.003954 0 0 OR4M2 390538 broad.mit.edu 37 15 22369378 22369378 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:22369378C>T ENST00000332663.2 + 1 901 c.803C>T c.(802-804)tCc>tTc p.S268F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(1) 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) GACTCGTTTTCCCTAGATAAA 0.423000 27 52 0 0 0.005443 0 0 PCDH18 54510 broad.mit.edu 37 4 138449706 138449706 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:138449706C>T ENST00000344876.4 - 3 3052 c.2666G>A c.(2665-2667)cGa>cAa p.R889Q PCDH18_ENST00000412923.2_Missense_Mutation_p.R888Q|PCDH18_ENST00000510305.1_Missense_Mutation_p.R100Q|PCDH18_ENST00000507846.1_Missense_Mutation_p.R668Q|PCDH18_ENST00000511115.1_Missense_Mutation_p.R69Q NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 889 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) TGGAGAATCTCGCCCCAAATC 0.448000 48 242 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9008193 9008193 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9008193C>T ENST00000397910.4 - 41 39562 c.39359G>A c.(39358-39360)cGg>cAg p.R13120Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13122 SEA 7. 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 GAGACTGTTCCGGTCCAGGGT 0.542000 75 129 0 0 0.003610 0 0 KEAP1 9817 broad.mit.edu 37 19 10600376 10600376 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:10600376C>T ENST00000171111.5 - 4 2026 c.1479G>A c.(1477-1479)gaG>gaA p.E493E KEAP1_ENST00000393623.2_Silent_p.E493E NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.E493D(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACTCGTTCCTCTCTGGGTAGT 0.597000 35 66 0 0 0.006230 0 0 MXRA5 25878 broad.mit.edu 37 X 3228224 3228224 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chrX:3228224G>A ENST00000217939.6 - 7 8174 c.8020C>T c.(8020-8022)Ccc>Tcc p.P2674S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2674 Ig-like C2-type 11. 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) ATGCCATTGGGGAGCGTCCAG 0.607000 18 36 0 0 0.008871 0 0 MC2R 4158 broad.mit.edu 37 18 13885413 13885413 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:13885413G>A ENST00000327606.3 - 2 285 c.105C>T c.(103-105)tcC>tcT p.S35S NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 35 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) CTCCAACAATGGAAATTGTGA 0.413000 12 30 0 0 0.001368 0 0 LIMK2 3985 broad.mit.edu 37 22 31663834 31663834 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:31663834C>T ENST00000331728.4 + 10 1315 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L LIMK2_ENST00000340552.4_Silent_p.L380L|LIMK2_ENST00000333611.4_Silent_p.L380L|LIMK2_ENST00000406516.1_Silent_p.L323L|LIMK2_ENST00000444929.2_Silent_p.L155L NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 401 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GGATAAGAAGCTGAACCTCCT 0.552000 35 59 0 0 0.003271 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384585 21384585 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:21384585G>A ENST00000382932.2 - 3 1105 c.1038C>T c.(1036-1038)gcC>gcT p.A346A SLC7A4_ENST00000403586.1_Silent_p.A346A NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 346 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CGGCGGCCATGGCATAGACAA 0.642000 7 56 0 0 0.003080 0 0 DUPD1 338599 broad.mit.edu 37 10 76797602 76797602 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:76797602C>T ENST00000338487.5 - 3 654 c.655G>A c.(655-657)Gag>Aag p.E219K NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 219 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCCTACAGCTCCCTGCCATCC 0.637000 45 48 0 0 0.003610 0 0 TRPM2 7226 broad.mit.edu 37 21 45820172 45820172 + Missense_Mutation SNP C C T rs146409810 byFrequency TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr21:45820172C>T ENST00000397928.1 + 15 2684 c.2239C>T c.(2239-2241)Ctc>Ttc p.L747F TRPM2_ENST00000397932.2_Missense_Mutation_p.L747F|TRPM2_ENST00000300482.5_Missense_Mutation_p.L747F|TRPM2_ENST00000300481.9_Missense_Mutation_p.L727F|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 747 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GTGGGGCCAGCTCTCCGTGGA 0.667000 24 17 0 0 0.007291 0 0 MYH13 8735 broad.mit.edu 37 17 10258257 10258257 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:10258257G>A ENST00000418404.3 - 9 1019 c.856C>T c.(856-858)Cat>Tat p.H286Y MYH13_ENST00000252172.4_Missense_Mutation_p.H286Y|MYH13_ENST00000570743.1_Missense_Mutation_p.H286Y Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 286 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TAGAAAATATGATAGCTTCTC 0.358000 14 12 0 0 0.004990 0 0 LBP 3929 broad.mit.edu 37 20 36982742 36982742 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr20:36982742C>T ENST00000217407.2 + 4 588 c.427C>T c.(427-429)Ctg>Ttg p.L143L NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 143 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GGTCAACCTCCTGTTGGGCAG 0.567000 28 33 0 0 0.002096 0 0 MUC16 94025 broad.mit.edu 37 19 9071105 9071105 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:9071105C>T ENST00000397910.4 - 3 16544 c.16341G>A c.(16339-16341)tcG>tcA p.S5447S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5449 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 GTGTGGCTTTCGATGTCTCTG 0.493000 88 133 0 0 0.003610 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37438607 37438607 + Splice_Site SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:37438607G>A ENST00000374660.1 + 10 1503 c.1404_splice c.e10+1 p.K468_splice ANKRD30A_ENST00000361713.1_Splice_Site_p.K468_splice|ANKRD30A_ENST00000602533.1_Splice_Site_p.K468_splice Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 524 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTGCCTTCAAGGTATTTAGTT 0.303000 24 33 0 0 0.003954 0 0 SLC22A7 10864 broad.mit.edu 37 6 43270098 43270098 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr6:43270098G>A ENST00000372585.5 + 8 1317 c.1222G>A c.(1222-1224)Ggg>Agg p.G408R SLC22A7_ENST00000372589.3_Missense_Mutation_p.G406R|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G406R NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 408 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CACGCAAGCTGGGACACTGCT 0.647000 5 22 0 0 0.001168 0 0 FAM98C 147965 broad.mit.edu 37 19 38893811 38893811 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:38893811G>A ENST00000252530.5 + 1 37 c.18G>A c.(16-18)gcG>gcA p.A6A FAM98C_ENST00000343358.7_Silent_p.A6A|FAM98C_ENST00000588262.1_Silent_p.A6A NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 6 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGGTGAAGGCGGAAGCGTGGG 0.731000 10 20 0 0 0.008291 0 0 OR2G6 391211 broad.mit.edu 37 1 248685589 248685589 + Missense_Mutation SNP C C G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:248685589C>G ENST00000343414.4 + 1 674 c.642C>G c.(640-642)atC>atG p.I214M NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 214 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) TGTTACTCATCTTAGTCTCCT 0.493000 13 98 0 0 0.002450 0 0 LILRA3 11026 broad.mit.edu 37 19 54802206 54802206 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:54802206G>A ENST00000391745.1 - 10 1349 c.1033C>T c.(1033-1035)Ctc>Ttc p.L345F LILRA3_ENST00000391744.3_Missense_Mutation_p.L264F|LILRA3_ENST00000251390.3_Missense_Mutation_p.L328F leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGCACGGAGAGGAAGGGTCTG 0.632000 8 35 0 0 0.003080 0 0 PDZD8 118987 broad.mit.edu 37 10 119044086 119044086 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:119044086G>A ENST00000334464.5 - 5 2397 c.2158C>T c.(2158-2160)Cct>Tct p.P720S PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 720 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) AACTTGAAAGGATCCCTGCAC 0.423000 16 48 0 0 0.004007 0 0 TNN 63923 broad.mit.edu 37 1 175046721 175046721 + Missense_Mutation SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr1:175046721T>C ENST00000239462.4 + 2 280 c.167T>C c.(166-168)gTt>gCt p.V56A NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 56 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TCTGCCTTGGTTCAGGTTGAC 0.607000 13 21 0 0 0.001855 0 0 GRIA1 2890 broad.mit.edu 37 5 153085405 153085405 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:153085405C>T ENST00000285900.5 + 11 1944 c.1601C>T c.(1600-1602)cCt>cTt p.P534L GRIA1_ENST00000448073.4_Missense_Mutation_p.P544L|GRIA1_ENST00000340592.5_Missense_Mutation_p.P534L|GRIA1_ENST00000518142.1_Missense_Mutation_p.P454L|GRIA1_ENST00000521843.2_Missense_Mutation_p.P465L|GRIA1_ENST00000518783.1_Missense_Mutation_p.P544L NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 534 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) TTCCTTGATCCTTTGGCTTAT 0.433000 62 61 0 0 0.003610 0 0 DNAH7 56171 broad.mit.edu 37 2 196759929 196759936 + Frame_Shift_Del DEL AACAAATC AACAAATC - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr2:196759929_196759936delAACAAATC ENST00000312428.6 - 30 4760_4767 c.4660_4667delGATTTGTT c.(4660-4668)tfs p.DLF1554fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1554 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 TACCCCAGGAAACAAATCCGAAGTAATT 0.317 9 34 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45718420 45718420 + Frame_Shift_Del DEL G G - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr3:45718420delG ENST00000273317.4 + 8 1921 c.1900delG c.(1900-1902)gtfs p.G634fs NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 634 LIM zinc-binding 3.|Necessary for nuclear localization. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) ACAGGACTGTGGTCTGGAGCT 0.557 79 147 --- --- --- --- POLR2B 5431 broad.mit.edu 37 4 57860959 57860961 + In_Frame_Del DEL ATC ATC - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr4:57860959_57860961delATC ENST00000381227.1 + 6 916_918 c.503_505delATC c.(502-507)ggt>g p.DR168del POLR2B_ENST00000314595.5_In_Frame_Del_p.DR168del|POLR2B_ENST00000441246.2_In_Frame_Del_p.DR161del|POLR2B_ENST00000431623.2_In_Frame_Del_p.DR93del 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) GGCTTGACAGATCGTGATCTTTG 0.340 21 61 --- --- --- --- C6 729 broad.mit.edu 37 5 41149487 41149523 + Frame_Shift_Del DEL GATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC GATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC - rs141740354 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr5:41149487_41149523delGATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC ENST00000263413.3 - 17 2707_2743 c.2443_2479delGCTTGTAAGTTTTTGGCTGAGAAATGTTTAAATAATC c.(2443-2481)agfs p.ACKFLAEKCLNNQ815fs C6_ENST00000337836.5_Frame_Shift_Del_p.ACKFLAEKCLNNQ815fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 815 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.K817R(1)|p.E821D(1)|p.K817T(1) 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) TGGAGTTGCTGATTATTTAAACATTTCTCAGCCAAAAACTTACAAGCGGGTGAAGTA 0.414 10 126 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98574287 98574311 + Frame_Shift_Del DEL CGCTGATGTTGGAGCACCAGGCTTT CGCTGATGTTGGAGCACCAGGCTTT - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:98574287_98574311delCGCTGATGTTGGAGCACCAGGCTTT ENST00000359863.4 + 54 8329_8353 c.8120_8144delCGCTGATGTTGGAGCACCAGGCTTT c.(8119-8145)atfs p.TLMLEHQAF2707fs TRRAP_ENST00000355540.3_Frame_Shift_Del_p.TLMLEHQAF2689fs|TRRAP_ENST00000446306.3_Frame_Shift_Del_p.TLMLEHQAF2689fs NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2707 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTCCGGTCCACGCTGATGTTGGAGCACCAGGCTTTTGAAAAGGGT 0.569 10 72 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100682344 100682344 + Frame_Shift_Del DEL T T - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr7:100682344delT ENST00000306151.4 + 3 7711 c.7647delT c.(7645-7647)tcfs p.S2549fs NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2549 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) TGGTCACTTCTACTGAAATCA 0.478 133 237 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12968281 12968281 + Frame_Shift_Del DEL A A - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr8:12968281delA ENST00000276297.4 - 7 1881 c.1472delT c.(1471-1473)tgfs p.L491fs DLC1_ENST00000358919.2_Frame_Shift_Del_p.L54fs|DLC1_ENST00000512044.2_Frame_Shift_Del_p.L88fs|DLC1_ENST00000520226.1_5'UTR NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 491 SAM. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 ATCTCTGTCCAAAAAATCATG 0.368 84 150 --- --- --- --- FAM102A 399665 broad.mit.edu 37 9 130716156 130716157 + Frame_Shift_Ins INS - - A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr9:130716156_130716157insA ENST00000373095.1 - 2 569_570 c.194_195insT c.(193-195)tgtfs p.C65fs NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 65 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 TCTTACACACGAAGGTGAACCT 0.634 10 32 --- --- --- --- SGPL1 8879 broad.mit.edu 37 10 72628160 72628160 + Frame_Shift_Del DEL C C - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr10:72628160delC ENST00000373202.3 + 8 874 c.674delC c.(673-675)gcfs p.A225fs NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 225 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) CGGGATCTGGCCTTTGAGAAG 0.443 17 98 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 2 4 --- --- --- --- LLGL2 3993 broad.mit.edu 37 17 73539582 73539583 + Splice_Site INS - - GT rs112645203 TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:73539582_73539583insGT ENST00000392550.3 + 2 192 c.75_splice c.e2+1 p.K25_splice LLGL2_ENST00000578363.1_Splice_Site_p.K25_splice|LLGL2_ENST00000167462.5_Splice_Site_p.K25_splice|LLGL2_ENST00000577200.1_Splice_Site_p.K25_splice|LLGL2_ENST00000375227.4_Splice_Site_p.K25_splice NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 25 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGTTTAACAAGgtaagttaggg 0.564 23 52 --- --- --- --- FASN 2194 broad.mit.edu 37 17 80049118 80049118 + Frame_Shift_Del DEL G G - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr17:80049118delG ENST00000306749.2 - 9 1690 c.1472delC c.(1471-1473)cgfs p.P491fs NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 491 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GAACCAGAGCGGGCGCTCGCC 0.697 9 9 --- --- --- --- CTAGE1 64693 broad.mit.edu 37 18 19995591 19995591 + Frame_Shift_Del DEL A A - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr18:19995591delA ENST00000391403.2 - 1 2287 c.2184delT c.(2182-2184)ttfs p.F728fs NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 728 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGTAAGGAAGAAAACCTCTCG 0.488 10 22 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 9 126 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18022246 18022246 + Frame_Shift_Del DEL T T - TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d86996d-3894-4f64-b4aa-8ad2cc8875ae ff11ae0e-c751-4025-8c51-d91be1e89172 g.chr22:18022246delT ENST00000262608.8 + 15 2351 c.2351delT c.(2350-2352)ccfs p.L784fs CECR2_ENST00000400585.2_Frame_Shift_Del_p.L642fs|CECR2_ENST00000400573.4_Frame_Shift_Del_p.L783fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 825 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) CCTCGCACTCTCGGTCACGTG 0.602 21 41 --- --- --- ---